| NM_024675.4(PALB2):c.1082_1120del (p.Thr361_Glu373del) |
deletion |
Familial cancer of breast [RCV001344449]|Hereditary cancer-predisposing syndrome [RCV000568772] |
Chr16:23635426..23635464 [GRCh38]
Chr16:23646747..23646785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3013T>A (p.Phe1005Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001858328]|Hereditary cancer-predisposing syndrome [RCV000568784] |
Chr16:23621462 [GRCh38]
Chr16:23632783 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000526053]|Hereditary cancer-predisposing syndrome [RCV001016191]|not provided [RCV000590337] |
Chr16:23626342 [GRCh38]
Chr16:23637663 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2088G>A (p.Thr696=) |
single nucleotide variant |
Familial cancer of breast [RCV001088154]|Hereditary cancer-predisposing syndrome [RCV001014387] |
Chr16:23630066 [GRCh38]
Chr16:23641387 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3253T>C (p.Leu1085=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561034] |
Chr16:23607961 [GRCh38]
Chr16:23619282 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3091A>G (p.Ile1031Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561086] |
Chr16:23621384 [GRCh38]
Chr16:23632705 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000989568]|Gastric cancer [RCV003159958]|Hereditary cancer-predisposing syndrome [RCV000566479]|not provided [RCV001800773] |
Chr16:23634871 [GRCh38]
Chr16:23646192 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.42G>A (p.Lys14=) |
single nucleotide variant |
Familial cancer of breast [RCV000526302]|Hereditary cancer-predisposing syndrome [RCV002330852] |
Chr16:23641116 [GRCh38]
Chr16:23652437 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1994A>T (p.Asp665Val) |
single nucleotide variant |
Familial cancer of breast [RCV001324301]|Hereditary cancer-predisposing syndrome [RCV000563467] |
Chr16:23630160 [GRCh38]
Chr16:23641481 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1086T>C (p.Leu362=) |
single nucleotide variant |
Familial cancer of breast [RCV000537867]|Hereditary cancer-predisposing syndrome [RCV000563563] |
Chr16:23635460 [GRCh38]
Chr16:23646781 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.935G>A (p.Ser312Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000553560]|Hereditary cancer-predisposing syndrome [RCV000567058]|not provided [RCV001800745] |
Chr16:23635611 [GRCh38]
Chr16:23646932 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2621C>A (p.Ala874Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001351087]|Hereditary cancer-predisposing syndrome [RCV000561509] |
Chr16:23626363 [GRCh38]
Chr16:23637684 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000548954]|Hereditary cancer-predisposing syndrome [RCV001016830]|not provided [RCV003478138]|not specified [RCV003493628] |
Chr16:23623099 [GRCh38]
Chr16:23634420 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315435]|Familial cancer of breast [RCV000555643]|Hereditary cancer-predisposing syndrome [RCV000574629]|not provided [RCV002254932]|not specified [RCV004767344] |
Chr16:23607978 [GRCh38]
Chr16:23619299 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.442_457dup (p.Arg153fs) |
duplication |
Familial cancer of breast [RCV000556316]|Hereditary cancer-predisposing syndrome [RCV000567132] |
Chr16:23636088..23636089 [GRCh38]
Chr16:23647409..23647410 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.481G>C (p.Asp161His) |
single nucleotide variant |
Familial cancer of breast [RCV000817677]|Hereditary cancer-predisposing syndrome [RCV000566918]|not provided [RCV003318597]|not specified [RCV002268179] |
Chr16:23636065 [GRCh38]
Chr16:23647386 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2111T>G (p.Leu704Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000543544]|Hereditary cancer-predisposing syndrome [RCV002420405] |
Chr16:23630043 [GRCh38]
Chr16:23641364 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) |
duplication |
Familial cancer of breast [RCV000543578]|Hereditary cancer-predisposing syndrome [RCV002323942]|not provided [RCV000657412] |
Chr16:23607907..23607908 [GRCh38]
Chr16:23619228..23619229 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2095T>A (p.Ser699Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001222882]|Hereditary cancer-predisposing syndrome [RCV000561815] |
Chr16:23630059 [GRCh38]
Chr16:23641380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1490del (p.Asn497fs) |
deletion |
Familial cancer of breast [RCV000527507]|Familial cancer of breast [RCV003483659]|Hereditary cancer-predisposing syndrome [RCV000567362]|not provided [RCV004592564] |
Chr16:23635056 [GRCh38]
Chr16:23646377 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|not provided |
| NM_024675.4(PALB2):c.1293T>G (p.Ser431Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000530618]|Hereditary cancer-predisposing syndrome [RCV000575371]|not specified [RCV001821526] |
Chr16:23635253 [GRCh38]
Chr16:23646574 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3152T>A (p.Ile1051Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000796970]|Hereditary cancer-predisposing syndrome [RCV000565402] |
Chr16:23614053 [GRCh38]
Chr16:23625374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000551829]|Hereditary cancer-predisposing syndrome [RCV000771302] |
Chr16:23629864 [GRCh38]
Chr16:23641185 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1985A>G (p.Lys662Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000810498]|Hereditary cancer-predisposing syndrome [RCV000564025] |
Chr16:23630169 [GRCh38]
Chr16:23641490 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) |
deletion |
Breast carcinoma [RCV001644632]|Familial cancer of breast [RCV000524877]|Hereditary cancer-predisposing syndrome [RCV002404412] |
Chr16:23630447..23630450 [GRCh38]
Chr16:23641768..23641771 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003476346]|Hereditary cancer-predisposing syndrome [RCV000564099] |
Chr16:23603502 [GRCh38]
Chr16:23614823 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2338G>T (p.Gly780Cys) |
single nucleotide variant |
Familial cancer of breast [RCV002528995]|Hereditary cancer-predisposing syndrome [RCV000567772] |
Chr16:23629816 [GRCh38]
Chr16:23641137 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2892A>G (p.Gly964=) |
single nucleotide variant |
Familial cancer of breast [RCV001398924]|Hereditary cancer-predisposing syndrome [RCV000565583]|not provided [RCV000932640]|not specified [RCV000614342] |
Chr16:23623073 [GRCh38]
Chr16:23634394 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.801_802dup (p.Lys268fs) |
duplication |
Familial cancer of breast [RCV000544422]|Hereditary breast ovarian cancer syndrome [RCV000588990] |
Chr16:23635743..23635744 [GRCh38]
Chr16:23647064..23647065 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1564C>G (p.Pro522Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565781] |
Chr16:23634982 [GRCh38]
Chr16:23646303 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3154GAT[1] (p.Asp1053del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000565882]|not specified [RCV001821678] |
Chr16:23614046..23614048 [GRCh38]
Chr16:23625367..23625369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2072G>A (p.Ser691Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000530168]|Hereditary cancer-predisposing syndrome [RCV001014295]|not provided [RCV003441924] |
Chr16:23630082 [GRCh38]
Chr16:23641403 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs) |
deletion |
Familial cancer of breast [RCV000539893]|Hereditary cancer-predisposing syndrome [RCV000567119] |
Chr16:23614045..23614048 [GRCh38]
Chr16:23625366..23625369 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001858211]|Hereditary cancer-predisposing syndrome [RCV000566139] |
Chr16:23635534 [GRCh38]
Chr16:23646855 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.505C>T (p.Leu169Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000545210] |
Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2225C>T (p.Ser742Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000545177]|Hereditary cancer-predisposing syndrome [RCV000574306] |
Chr16:23629929 [GRCh38]
Chr16:23641250 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001305394]|Hereditary cancer-predisposing syndrome [RCV000566274]|not provided [RCV004592701] |
Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.276T>G (p.Thr92=) |
single nucleotide variant |
Familial cancer of breast [RCV000545630]|Hereditary cancer-predisposing syndrome [RCV002438334]|not specified [RCV003323597] |
Chr16:23636270 [GRCh38]
Chr16:23647591 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1795del (p.Ser599fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000563104] |
Chr16:23630359 [GRCh38]
Chr16:23641680 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.600A>G (p.Leu200=) |
single nucleotide variant |
Familial cancer of breast [RCV001419088]|Hereditary cancer-predisposing syndrome [RCV000569277] |
Chr16:23635946 [GRCh38]
Chr16:23647267 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1532G>A (p.Arg511Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000532982]|Hereditary cancer-predisposing syndrome [RCV002395344] |
Chr16:23635014 [GRCh38]
Chr16:23646335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000691734]|Hereditary cancer-predisposing syndrome [RCV000563604] |
Chr16:23635040 [GRCh38]
Chr16:23646361 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.630A>G (p.Pro210=) |
single nucleotide variant |
Familial cancer of breast [RCV003500552]|Hereditary cancer-predisposing syndrome [RCV000565736] |
Chr16:23635916 [GRCh38]
Chr16:23647237 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000700246]|Hereditary breast ovarian cancer syndrome [RCV003155951]|Hereditary cancer-predisposing syndrome [RCV000565870] |
Chr16:23614075 [GRCh38]
Chr16:23625396 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1939C>T (p.His647Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000692136]|Hereditary cancer-predisposing syndrome [RCV000567935]|not provided [RCV000587201] |
Chr16:23630215 [GRCh38]
Chr16:23641536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV001037839]|Hereditary cancer-predisposing syndrome [RCV000568799]|PALB2-related disorder [RCV004527630]|not provided [RCV000519126] |
Chr16:23630471 [GRCh38]
Chr16:23641792 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.892G>A (p.Val298Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000551680]|Hereditary cancer-predisposing syndrome [RCV000563746]|not provided [RCV001800744] |
Chr16:23635654 [GRCh38]
Chr16:23646975 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2608G>T (p.Val870Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000525255]|Hereditary cancer-predisposing syndrome [RCV000565637] |
Chr16:23626376 [GRCh38]
Chr16:23637697 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3132A>T (p.Gln1044His) |
single nucleotide variant |
Familial cancer of breast [RCV000527442]|Hereditary cancer-predisposing syndrome [RCV000564415]|PALB2-related disorder [RCV004527638] |
Chr16:23614073 [GRCh38]
Chr16:23625394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1192del (p.Val398fs) |
deletion |
Familial cancer of breast [RCV000818431]|Hereditary cancer-predisposing syndrome [RCV000565917]|Malignant tumor of breast [RCV001357628]|Neoplasm of uterus [RCV002245019]|not provided [RCV002275087] |
Chr16:23635354 [GRCh38]
Chr16:23646675 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000690008]|Hereditary cancer-predisposing syndrome [RCV000565945]|not provided [RCV001030287] |
Chr16:23629933 [GRCh38]
Chr16:23641254 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2412T>C (p.Ser804=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565977] |
Chr16:23629742 [GRCh38]
Chr16:23641063 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.41A>G (p.Lys14Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000550310] |
Chr16:23641117 [GRCh38]
Chr16:23652438 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.651T>C (p.Asn217=) |
single nucleotide variant |
Familial cancer of breast [RCV002060523]|Hereditary cancer-predisposing syndrome [RCV000567939] |
Chr16:23635895 [GRCh38]
Chr16:23647216 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2907G>A (p.Val969=) |
single nucleotide variant |
Familial cancer of breast [RCV000542295]|Hereditary cancer-predisposing syndrome [RCV002438335] |
Chr16:23623058 [GRCh38]
Chr16:23634379 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1243A>T (p.Ser415Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560932] |
Chr16:23635303 [GRCh38]
Chr16:23646624 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2619T>A (p.Ser873Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563907] |
Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.525A>G (p.Arg175=) |
single nucleotide variant |
Familial cancer of breast [RCV000529109]|Hereditary cancer-predisposing syndrome [RCV000567061]|not provided [RCV001697021]|not specified [RCV003479153] |
Chr16:23636021 [GRCh38]
Chr16:23647342 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.927A>C (p.Ile309=) |
single nucleotide variant |
Familial cancer of breast [RCV000547368]|Hereditary cancer-predisposing syndrome [RCV000582870] |
Chr16:23635619 [GRCh38]
Chr16:23646940 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.965A>G (p.Glu322Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568198] |
Chr16:23635581 [GRCh38]
Chr16:23646902 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.509G>C (p.Arg170Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000818311]|Hereditary cancer-predisposing syndrome [RCV000564267]|not provided [RCV001030155] |
Chr16:23636037 [GRCh38]
Chr16:23647358 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2947A>G (p.Thr983Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566438] |
Chr16:23623018 [GRCh38]
Chr16:23634339 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1858G>C (p.Gly620Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000531505]|Hereditary cancer-predisposing syndrome [RCV004023846]|not provided [RCV001565817] |
Chr16:23630296 [GRCh38]
Chr16:23641617 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+4del |
deletion |
Familial cancer of breast [RCV000635647]|Hereditary cancer-predisposing syndrome [RCV000568448] |
Chr16:23614000 [GRCh38]
Chr16:23625321 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001240791]|Hereditary cancer-predisposing syndrome [RCV000561459]|not specified [RCV003151105] |
Chr16:23629693 [GRCh38]
Chr16:23641014 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.706T>A (p.Phe236Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000554280]|Hereditary cancer-predisposing syndrome [RCV002367813] |
Chr16:23635840 [GRCh38]
Chr16:23647161 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1821C>T (p.Leu607=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568660]|not specified [RCV000780573] |
Chr16:23630333 [GRCh38]
Chr16:23641654 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.7G>A (p.Glu3Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001064138]|Hereditary cancer-predisposing syndrome [RCV000561851] |
Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2213G>A (p.Gly738Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000697044]|Hereditary cancer-predisposing syndrome [RCV000564730] |
Chr16:23629941 [GRCh38]
Chr16:23641262 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1891T>C (p.Ser631Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001341193]|Hereditary cancer-predisposing syndrome [RCV000564796]|not provided [RCV003159138] |
Chr16:23630263 [GRCh38]
Chr16:23641584 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1063T>G (p.Leu355Val) |
single nucleotide variant |
Familial cancer of breast [RCV001047469]|Hereditary cancer-predisposing syndrome [RCV000564838] |
Chr16:23635483 [GRCh38]
Chr16:23646804 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000532304]|Hereditary cancer-predisposing syndrome [RCV000771674]|not specified [RCV001280599] |
Chr16:23630268 [GRCh38]
Chr16:23641589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000554765]|Hereditary cancer-predisposing syndrome [RCV000580967] |
Chr16:23636256 [GRCh38]
Chr16:23647577 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.679G>A (p.Ala227Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000549559]|Hereditary cancer-predisposing syndrome [RCV000565165]|not provided [RCV001538307]|not specified [RCV000588764] |
Chr16:23635867 [GRCh38]
Chr16:23647188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001046985]|Hereditary cancer-predisposing syndrome [RCV000564967]|not provided [RCV003736822] |
Chr16:23634861 [GRCh38]
Chr16:23646182 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.364G>A (p.Asp122Asn) |
single nucleotide variant |
Carcinoma of colon [RCV001030144]|Familial cancer of breast [RCV000822879]|Hereditary cancer-predisposing syndrome [RCV000568891]|not provided [RCV001692209] |
Chr16:23636182 [GRCh38]
Chr16:23647503 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3455C>T (p.Pro1152Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562323] |
Chr16:23603565 [GRCh38]
Chr16:23614886 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2382G>T (p.Arg794Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001049868]|Hereditary cancer-predisposing syndrome [RCV000562427] |
Chr16:23629772 [GRCh38]
Chr16:23641093 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1731T>C (p.Asn577=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568996] |
Chr16:23630423 [GRCh38]
Chr16:23641744 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000685459]|Hereditary cancer-predisposing syndrome [RCV000562850]|not provided [RCV003478238]|not specified [RCV001844198] |
Chr16:23626252 [GRCh38]
Chr16:23637573 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs) |
microsatellite |
Familial cancer of breast [RCV003607309]|Hereditary cancer-predisposing syndrome [RCV000565551] |
Chr16:23635474..23635475 [GRCh38]
Chr16:23646795..23646796 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.349C>A (p.Pro117Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003444602]|Familial cancer of breast [RCV000684939]|Hereditary cancer-predisposing syndrome [RCV000567477]|not provided [RCV003237929] |
Chr16:23636197 [GRCh38]
Chr16:23647518 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.905del (p.Asn302fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000565598] |
Chr16:23635641 [GRCh38]
Chr16:23646962 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000546200]|Hereditary cancer-predisposing syndrome [RCV001180795] |
Chr16:23629702 [GRCh38]
Chr16:23641023 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) |
indel |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315409]|Familial cancer of breast [RCV000204991]|Familial cancer of breast [RCV002477318]|Hereditary cancer-predisposing syndrome [RCV000131311]|Malignant tumor of breast [RCV001005025]|PALB2-related disorder [RCV004528835]|not provided [RCV000160815]|not specified [RCV000121746] |
Chr16:23635712..23635713 [GRCh38]
Chr16:23647033..23647034 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| PALB2:c.49-?_2586+?del |
deletion |
Fanconi anemia complementation group N [RCV000001303] |
Chr16:16p12 |
pathogenic |
| PALB2, 1-BP DEL, 3116A |
deletion |
Fanconi anemia, complementation group N [RCV000001308]|Breast cancer, susceptibility to [RCV000001309]|Pancreatic cancer 3 [RCV000030870] |
Chr16:16p12 |
pathogenic|risk factor |
| PALB2, 1-BP DEL, 1592T |
deletion |
Breast cancer, susceptibility to [RCV000001310] |
Chr16:16p12 |
risk factor |
| PALB2, 4-BP DEL, 172TTGT |
deletion |
Pancreatic cancer 3 [RCV000001311] |
Chr16:16p12 |
risk factor |
| PALB2, IVS5, G-T, -1 |
single nucleotide variant |
Pancreatic cancer 3 [RCV000001312] |
Chr16:16p12 |
risk factor |
| PALB2, 3256C-T |
single nucleotide variant |
Pancreatic cancer 3 [RCV000001314] |
Chr16:16p12 |
risk factor |
| NM_024675.4(PALB2):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561094] |
Chr16:23630239 [GRCh38]
Chr16:23641560 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635884]|Hereditary cancer-predisposing syndrome [RCV000561229] |
Chr16:23614004 [GRCh38]
Chr16:23625325 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002526811]|Hereditary cancer-predisposing syndrome [RCV000561839] |
Chr16:23630313 [GRCh38]
Chr16:23641634 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.999C>G (p.Thr333=) |
single nucleotide variant |
Familial cancer of breast [RCV000543845] |
Chr16:23635547 [GRCh38]
Chr16:23646868 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2149G>A (p.Asp717Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002528017]|Hereditary cancer-predisposing syndrome [RCV000562067] |
Chr16:23630005 [GRCh38]
Chr16:23641326 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2837del (p.Ala946fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000562315] |
Chr16:23623128 [GRCh38]
Chr16:23634449 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000764049]|Familial cancer of breast [RCV000989562]|Hereditary cancer-predisposing syndrome [RCV000563462] |
Chr16:23630128 [GRCh38]
Chr16:23641449 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3159T>C (p.Asp1053=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562763]|not specified [RCV000606493] |
Chr16:23614046 [GRCh38]
Chr16:23625367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2131G>A (p.Val711Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000531730]|Hereditary cancer-predisposing syndrome [RCV000571134] |
Chr16:23630023 [GRCh38]
Chr16:23641344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) |
deletion |
Familial cancer of breast [RCV003451224]|Hereditary cancer-predisposing syndrome [RCV000564176] |
Chr16:23623002..23623003 [GRCh38]
Chr16:23634323..23634324 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3060A>G (p.Gln1020=) |
single nucleotide variant |
Familial cancer of breast [RCV001445003]|Hereditary cancer-predisposing syndrome [RCV000562992]|not provided [RCV001030373] |
Chr16:23621415 [GRCh38]
Chr16:23632736 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2319T>C (p.Thr773=) |
single nucleotide variant |
Familial cancer of breast [RCV000527401]|Hereditary cancer-predisposing syndrome [RCV000570160]|not specified [RCV001030297] |
Chr16:23629835 [GRCh38]
Chr16:23641156 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.808A>G (p.Ser270Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000807027]|Hereditary cancer-predisposing syndrome [RCV000563900]|not provided [RCV000985895] |
Chr16:23635738 [GRCh38]
Chr16:23647059 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000814692]|Hereditary cancer-predisposing syndrome [RCV000561217]|not provided [RCV000757593] |
Chr16:23623047 [GRCh38]
Chr16:23634368 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2071A>G (p.Ser691Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002526791]|Hereditary cancer-predisposing syndrome [RCV000561320] |
Chr16:23630083 [GRCh38]
Chr16:23641404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1165C>G (p.Leu389Val) |
single nucleotide variant |
Familial cancer of breast [RCV000552765]|Hereditary cancer-predisposing syndrome [RCV000777229]|not provided [RCV003236811] |
Chr16:23635381 [GRCh38]
Chr16:23646702 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001224726]|Hereditary cancer-predisposing syndrome [RCV000563292] |
Chr16:23630209 [GRCh38]
Chr16:23641530 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000530439]|Fanconi anemia complementation group N [RCV001118312]|Hereditary cancer-predisposing syndrome [RCV000568617]|not provided [RCV001030167] |
Chr16:23635828 [GRCh38]
Chr16:23647149 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1326T>C (p.Asn442=) |
single nucleotide variant |
Familial cancer of breast [RCV000543081]|not specified [RCV000599738] |
Chr16:23635220 [GRCh38]
Chr16:23646541 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1052C>T (p.Thr351Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000543661] |
Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-9C>T |
single nucleotide variant |
Familial cancer of breast [RCV000989580]|Hereditary cancer-predisposing syndrome [RCV000777568]|not specified [RCV000602709] |
Chr16:23636343 [GRCh38]
Chr16:23647664 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.319T>A (p.Phe107Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000548393] |
Chr16:23636227 [GRCh38]
Chr16:23647548 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000547156]|Hereditary cancer-predisposing syndrome [RCV000571222]|not provided [RCV002259347] |
Chr16:23634903 [GRCh38]
Chr16:23646224 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000547300]|Hereditary cancer-predisposing syndrome [RCV000564987]|not provided [RCV003329296]|not specified [RCV003317262] |
Chr16:23603544 [GRCh38]
Chr16:23614865 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000635950]|Hereditary cancer-predisposing syndrome [RCV000561985]|not specified [RCV000780557] |
Chr16:23635254 [GRCh38]
Chr16:23646575 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) |
single nucleotide variant |
Carcinoma of colon [RCV001030288]|Familial cancer of breast [RCV000689640]|Familial cancer of breast [RCV002491122]|Hereditary cancer-predisposing syndrome [RCV000566180]|not provided [RCV001775883] |
Chr16:23629920 [GRCh38]
Chr16:23641241 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1390A>G (p.Arg464Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562082] |
Chr16:23635156 [GRCh38]
Chr16:23646477 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3231C>A (p.Pro1077=) |
single nucleotide variant |
Familial cancer of breast [RCV000554232]|Hereditary cancer-predisposing syndrome [RCV000566988] |
Chr16:23607983 [GRCh38]
Chr16:23619304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635743]|Hereditary cancer-predisposing syndrome [RCV000565142]|not provided [RCV002274068] |
Chr16:23634919 [GRCh38]
Chr16:23646240 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.828C>T (p.His276=) |
single nucleotide variant |
Familial cancer of breast [RCV000557022]|Familial ovarian cancer [RCV001357885]|Fanconi anemia complementation group N [RCV001118311]|Hereditary cancer-predisposing syndrome [RCV000567452]|Malignant tumor of breast [RCV001354533]|not provided [RCV001171908] |
Chr16:23635718 [GRCh38]
Chr16:23647039 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000549307]|Hereditary cancer-predisposing syndrome [RCV002413486] |
Chr16:23630452 [GRCh38]
Chr16:23641773 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2895T>C (p.Asn965=) |
single nucleotide variant |
Familial cancer of breast [RCV000549312]|Hereditary cancer-predisposing syndrome [RCV003362834] |
Chr16:23623070 [GRCh38]
Chr16:23634391 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1629G>C (p.Lys543Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001858167]|Hereditary cancer-predisposing syndrome [RCV000566796] |
Chr16:23634917 [GRCh38]
Chr16:23646238 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.90G>A (p.Lys30=) |
single nucleotide variant |
Familial cancer of breast [RCV001444109]|Hereditary cancer-predisposing syndrome [RCV000566824]|not provided [RCV003478215] |
Chr16:23638088 [GRCh38]
Chr16:23649409 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1565del (p.Pro522fs) |
deletion |
Familial cancer of breast [RCV000529207]|Hereditary cancer-predisposing syndrome [RCV003380605]|Malignant tumor of breast [RCV002231716] |
Chr16:23634981 [GRCh38]
Chr16:23646302 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000529311]|Familial cancer of breast [RCV002483394]|Hereditary cancer-predisposing syndrome [RCV001019294] |
Chr16:23607997 [GRCh38]
Chr16:23619318 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.636A>G (p.Pro212=) |
single nucleotide variant |
Familial cancer of breast [RCV001424874]|Hereditary cancer-predisposing syndrome [RCV000562362] |
Chr16:23635910 [GRCh38]
Chr16:23647231 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3094A>G (p.Met1032Val) |
single nucleotide variant |
Familial cancer of breast [RCV001858156]|Hereditary cancer-predisposing syndrome [RCV000561174] |
Chr16:23621381 [GRCh38]
Chr16:23632702 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1576C>G (p.His526Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000546388]|Hereditary cancer-predisposing syndrome [RCV000582966] |
Chr16:23634970 [GRCh38]
Chr16:23646291 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.232del (p.Val78fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000562722] |
Chr16:23636314 [GRCh38]
Chr16:23647635 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2503T>A (p.Ser835Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001858209]|Hereditary cancer-predisposing syndrome [RCV000562867] |
Chr16:23629651 [GRCh38]
Chr16:23640972 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1286T>C (p.Ile429Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562896] |
Chr16:23635260 [GRCh38]
Chr16:23646581 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3365A>T (p.Asp1122Val) |
single nucleotide variant |
not provided [RCV000520349] |
Chr16:23603655 [GRCh38]
Chr16:23614976 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.480A>G (p.Arg160=) |
single nucleotide variant |
Familial cancer of breast [RCV002060483]|Hereditary cancer-predisposing syndrome [RCV000563026] |
Chr16:23636066 [GRCh38]
Chr16:23647387 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.278G>A (p.Gly93Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000811865]|Hereditary cancer-predisposing syndrome [RCV000567128]|not provided [RCV003148792] |
Chr16:23636268 [GRCh38]
Chr16:23647589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2429C>T (p.Pro810Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000529562]|Hereditary cancer-predisposing syndrome [RCV000773135] |
Chr16:23629725 [GRCh38]
Chr16:23641046 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2424A>G (p.Gly808=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565782] |
Chr16:23629730 [GRCh38]
Chr16:23641051 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.736A>T (p.Thr246Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000699347]|Hereditary cancer-predisposing syndrome [RCV000567314]|not provided [RCV001775886] |
Chr16:23635810 [GRCh38]
Chr16:23647131 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) |
deletion |
Familial cancer of breast [RCV001220630]|Hereditary cancer-predisposing syndrome [RCV000567486]|PALB2-related disorder [RCV004545787]|not provided [RCV000657828] |
Chr16:23635280 [GRCh38]
Chr16:23646601 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|not provided |
| NM_024675.4(PALB2):c.48+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000635645]|Hereditary cancer-predisposing syndrome [RCV000561202]|not provided [RCV000708619] |
Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635833]|Hereditary cancer-predisposing syndrome [RCV000561696]|not provided [RCV001030334] |
Chr16:23626352 [GRCh38]
Chr16:23637673 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000804639]|Hereditary cancer-predisposing syndrome [RCV000561858] |
Chr16:23630371 [GRCh38]
Chr16:23641692 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1398T>G (p.Ser466=) |
single nucleotide variant |
Familial cancer of breast [RCV000537302]|Hereditary cancer-predisposing syndrome [RCV000573842]|PALB2-related disorder [RCV004541673]|not provided [RCV000611260] |
Chr16:23635148 [GRCh38]
Chr16:23646469 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2896A>T (p.Ile966Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000525305] |
Chr16:23623069 [GRCh38]
Chr16:23634390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.995T>C (p.Leu332Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000554766]|Hereditary cancer-predisposing syndrome [RCV000561598]|not provided [RCV001800746] |
Chr16:23635551 [GRCh38]
Chr16:23646872 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2202T>G (p.Thr734=) |
single nucleotide variant |
Familial cancer of breast [RCV003500566]|Hereditary cancer-predisposing syndrome [RCV000567529] |
Chr16:23629952 [GRCh38]
Chr16:23641273 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.193C>G (p.Pro65Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000704290]|Hereditary cancer-predisposing syndrome [RCV000564430] |
Chr16:23637868 [GRCh38]
Chr16:23649189 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1634A>G (p.Glu545Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561877] |
Chr16:23634912 [GRCh38]
Chr16:23646233 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000544610]|Hereditary cancer-predisposing syndrome [RCV000575442]|not provided [RCV001538610]|not specified [RCV001174761] |
Chr16:23635480 [GRCh38]
Chr16:23646801 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2156C>G (p.Pro719Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567922] |
Chr16:23629998 [GRCh38]
Chr16:23641319 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.18G>A (p.Gly6=) |
single nucleotide variant |
Familial cancer of breast [RCV000544942]|Familial cancer of breast [RCV002497105]|Hereditary cancer-predisposing syndrome [RCV000575984] |
Chr16:23641140 [GRCh38]
Chr16:23652461 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.371C>T (p.Thr124Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000693977]|Hereditary cancer-predisposing syndrome [RCV000562435]|not provided [RCV003235296]|not specified [RCV004689798] |
Chr16:23636175 [GRCh38]
Chr16:23647496 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1870C>T (p.Leu624Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000804871]|Hereditary cancer-predisposing syndrome [RCV000568032] |
Chr16:23630284 [GRCh38]
Chr16:23641605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2418G>T (p.Pro806=) |
single nucleotide variant |
Familial cancer of breast [RCV001030306]|Hereditary cancer-predisposing syndrome [RCV000774630]|PALB2-related disorder [RCV004537940]|not provided [RCV001800743]|not specified [RCV000612786] |
Chr16:23629736 [GRCh38]
Chr16:23641057 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1111G>A (p.Glu371Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635715]|Hereditary cancer-predisposing syndrome [RCV000566028] |
Chr16:23635435 [GRCh38]
Chr16:23646756 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.985_986del (p.Leu329fs) |
microsatellite |
Familial cancer of breast [RCV000553727] |
Chr16:23635560..23635561 [GRCh38]
Chr16:23646881..23646882 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000550532]|Hereditary cancer-predisposing syndrome [RCV001019991]|not provided [RCV004592566] |
Chr16:23607890 [GRCh38]
Chr16:23619211 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) |
single nucleotide variant |
Familial cancer of breast [RCV000528385]|Fanconi anemia complementation group N [RCV001121623]|Hereditary cancer-predisposing syndrome [RCV001020184]|not provided [RCV001796099]|not specified [RCV000602592] |
Chr16:23603626 [GRCh38]
Chr16:23614947 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3351-4T>C |
single nucleotide variant |
Familial cancer of breast [RCV000550872]|Hereditary cancer-predisposing syndrome [RCV002323943] |
Chr16:23603673 [GRCh38]
Chr16:23614994 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1785T>C (p.Asp595=) |
single nucleotide variant |
Familial cancer of breast [RCV000526181]|Hereditary cancer-predisposing syndrome [RCV001013175]|PALB2-related disorder [RCV004537939] |
Chr16:23630369 [GRCh38]
Chr16:23641690 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3246dup (p.Glu1083Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000564873] |
Chr16:23607967..23607968 [GRCh38]
Chr16:23619288..23619289 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2613T>A (p.Asp871Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003607308]|Hereditary cancer-predisposing syndrome [RCV000566434] |
Chr16:23626371 [GRCh38]
Chr16:23637692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3447C>G (p.Ala1149=) |
single nucleotide variant |
Familial cancer of breast [RCV001477692]|Hereditary cancer-predisposing syndrome [RCV001020323] |
Chr16:23603573 [GRCh38]
Chr16:23614894 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001306017]|Hereditary cancer-predisposing syndrome [RCV000563156] |
Chr16:23629752 [GRCh38]
Chr16:23641073 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1710G>A (p.Glu570=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566692] |
Chr16:23630444 [GRCh38]
Chr16:23641765 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.971A>C (p.Asn324Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000580230] |
Chr16:23635575 [GRCh38]
Chr16:23646896 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.305T>C (p.Val102Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000551090]|Hereditary cancer-predisposing syndrome [RCV000575360]|not provided [RCV001030141] |
Chr16:23636241 [GRCh38]
Chr16:23647562 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+4T>C |
single nucleotide variant |
Familial cancer of breast [RCV000815391]|Hereditary cancer-predisposing syndrome [RCV000563717] |
Chr16:23624005 [GRCh38]
Chr16:23635326 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1221_1222delinsTC (p.Glu407_Tyr408delinsAspHis) |
indel |
Hereditary cancer-predisposing syndrome [RCV000580322] |
Chr16:23635324..23635325 [GRCh38]
Chr16:23646645..23646646 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2125A>T (p.Asn709Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001213447]|Hereditary cancer-predisposing syndrome [RCV000580326] |
Chr16:23630029 [GRCh38]
Chr16:23641350 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del) |
deletion |
Familial cancer of breast [RCV000663202]|Hereditary cancer-predisposing syndrome [RCV000580403] |
Chr16:23629820..23629849 [GRCh38]
Chr16:23641141..23641170 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2431C>T (p.Pro811Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000800440]|Hereditary cancer-predisposing syndrome [RCV000580524] |
Chr16:23629723 [GRCh38]
Chr16:23641044 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003451225]|Hereditary cancer-predisposing syndrome [RCV000565155] |
Chr16:23614040 [GRCh38]
Chr16:23625361 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23619179)_(23625418_?)dup |
duplication |
Familial cancer of breast [RCV000552382] |
Chr16:23607858..23614097 [GRCh38]
Chr16:23619179..23625418 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2002del (p.Met668fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000567395] |
Chr16:23630152 [GRCh38]
Chr16:23641473 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000989559]|Hereditary breast ovarian cancer syndrome [RCV000587693]|Hereditary cancer-predisposing syndrome [RCV000567438]|not provided [RCV003318598] |
Chr16:23629936 [GRCh38]
Chr16:23641257 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2706T>C (p.Asp902=) |
single nucleotide variant |
Familial cancer of breast [RCV000526823] |
Chr16:23626278 [GRCh38]
Chr16:23637599 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.635del (p.Pro212fs) |
deletion |
Familial cancer of breast [RCV000547909] |
Chr16:23635911 [GRCh38]
Chr16:23647232 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000540647]|Hereditary cancer-predisposing syndrome [RCV000569513] |
Chr16:23630137 [GRCh38]
Chr16:23641458 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.704C>T (p.Thr235Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000542532]|Hereditary cancer-predisposing syndrome [RCV000777204] |
Chr16:23635842 [GRCh38]
Chr16:23647163 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.854C>G (p.Ser285Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561198] |
Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.968C>T (p.Ala323Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635863]|Familial cancer of breast [RCV002476232]|Hereditary cancer-predisposing syndrome [RCV000564210]|not provided [RCV001800781]|not specified [RCV004586802] |
Chr16:23635578 [GRCh38]
Chr16:23646899 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1873del (p.Glu625fs) |
deletion |
Familial cancer of breast [RCV001858213]|Hereditary cancer-predisposing syndrome [RCV000564651] |
Chr16:23630281 [GRCh38]
Chr16:23641602 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2979G>A (p.Thr993=) |
single nucleotide variant |
Familial cancer of breast [RCV001489604]|Hereditary cancer-predisposing syndrome [RCV000564683] |
Chr16:23622986 [GRCh38]
Chr16:23634307 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000476387]|Fanconi anemia complementation group N [RCV000001302]|Hereditary cancer-predisposing syndrome [RCV000217204]|not provided [RCV000235772] |
Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) |
single nucleotide variant |
Breast cancer, susceptibility to [RCV000001305]|Familial cancer of breast [RCV000114634]|Fanconi anemia complementation group N [RCV000001304]|Hereditary cancer-predisposing syndrome [RCV000129158]|PALB2-related disorder [RCV004528063]|Pancreatic cancer, susceptibility to, 3 [RCV001355428]|not provided [RCV000212830]|not specified [RCV000121742] |
Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|not provided |
| NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) |
single nucleotide variant |
Breast cancer, susceptibility to [RCV000001307]|Familial cancer of breast [RCV000662710]|Fanconi anemia complementation group N [RCV000001306]|Hereditary cancer-predisposing syndrome [RCV000129469]|not provided [RCV000657596] |
Chr16:23623003 [GRCh38]
Chr16:23634324 [GRCh37]
Chr16:16p12.2 |
pathogenic|risk factor |
| NM_024675.4(PALB2):c.*232G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030426]|Fanconi anemia complementation group N [RCV001121620] |
Chr16:23603227 [GRCh38]
Chr16:23614548 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NC_000016.10:g.23603112T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030427] |
Chr16:23603112 [GRCh38]
Chr16:23614433 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-104C>T |
single nucleotide variant |
Familial cancer of breast [RCV001030096] |
Chr16:23641261 [GRCh38]
Chr16:23652582 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-145G>C |
single nucleotide variant |
Familial cancer of breast [RCV001030095] |
Chr16:23641302 [GRCh38]
Chr16:23652623 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.10:g.23641315C>G |
single nucleotide variant |
Familial cancer of breast [RCV001030094]|Fanconi anemia complementation group N [RCV000282144]|Hereditary cancer-predisposing syndrome [RCV000374410]|not provided [RCV000829438] |
Chr16:23641315 [GRCh38]
Chr16:23652636 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NC_000016.10:g.23641351G>C |
single nucleotide variant |
Familial cancer of breast [RCV001030093] |
Chr16:23641351 [GRCh38]
Chr16:23652672 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.-200-27T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030091] |
Chr16:23641384 [GRCh38]
Chr16:23652705 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.-200-?_3113+?del |
deletion |
Fanconi anemia, complementation group N [RCV000114442] |
|
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.-25C>A |
single nucleotide variant |
Familial cancer of breast [RCV001030100] |
Chr16:23641182 [GRCh38]
Chr16:23652503 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.10:g.23641516C>G |
single nucleotide variant |
Familial cancer of breast [RCV001030090] |
Chr16:23641516 [GRCh38]
Chr16:23652837 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.-46G>A |
single nucleotide variant |
Familial cancer of breast [RCV001030099] |
Chr16:23641203 [GRCh38]
Chr16:23652524 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-47G>A |
single nucleotide variant |
Familial cancer of breast [RCV001030098]|Fanconi anemia complementation group N [RCV000322920]|Hereditary breast ovarian cancer syndrome [RCV002225293]|Hereditary cancer-predisposing syndrome [RCV000379880]|not provided [RCV001689640]|not specified [RCV000248074] |
Chr16:23641204 [GRCh38]
Chr16:23652525 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.-98C>A |
single nucleotide variant |
Familial cancer of breast [RCV001030097] |
Chr16:23641255 [GRCh38]
Chr16:23652576 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001087026]|Fanconi anemia complementation group N [RCV000402501]|Hereditary cancer-predisposing syndrome [RCV000165476]|not provided [RCV000483117]|not specified [RCV004595925] |
Chr16:23635546 [GRCh38]
Chr16:23646867 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798290]|Familial cancer of breast [RCV000114449]|Hereditary breast ovarian cancer syndrome [RCV003483471]|Hereditary cancer [RCV000415191]|Hereditary cancer-predisposing syndrome [RCV000116060]|PALB2-related disorder [RCV004529916]|not provided [RCV000212784]|not specified [RCV000781695] |
Chr16:23635545 [GRCh38]
Chr16:23646866 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798291]|Familial cancer of breast [RCV000114450]|Fanconi anemia complementation group N [RCV001116860]|Hereditary cancer-predisposing syndrome [RCV000127306]|Malignant tumor of breast [RCV001354445]|not provided [RCV000755592]|not specified [RCV000121752] |
Chr16:23635536 [GRCh38]
Chr16:23646857 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) |
single nucleotide variant |
Breast cancer, susceptibility to [RCV000144519]|Familial cancer of breast [RCV001040014]|Hereditary breast ovarian cancer syndrome [RCV003155912]|Hereditary cancer-predisposing syndrome [RCV000215551]|not provided [RCV001030193] |
Chr16:23635519 [GRCh38]
Chr16:23646840 [GRCh37]
Chr16:16p12.2 |
pathogenic|risk factor |
| NM_024675.4(PALB2):c.1038A>G (p.Lys346=) |
single nucleotide variant |
Familial cancer of breast [RCV001030195]|Hereditary cancer-predisposing syndrome [RCV000564445] |
Chr16:23635508 [GRCh38]
Chr16:23646829 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.3(PALB2):c.1050_1051delinsTCT (p.Gln350fs) |
indel |
Familial cancer of breast [RCV001030197] |
Chr16:23635495..23635496 [GRCh38]
Chr16:23646816..23646817 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) |
deletion |
Familial cancer of breast [RCV000470398]|Familial cancer of breast [RCV002477267]|Hereditary cancer-predisposing syndrome [RCV000129806]|Malignant tumor of breast [RCV001260315]|not provided [RCV000483096] |
Chr16:23635493..23635496 [GRCh38]
Chr16:23646814..23646817 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) |
microsatellite |
Familial cancer of breast [RCV000114457]|Hereditary cancer-predisposing syndrome [RCV000165605]|Lynch syndrome 1 [RCV003485539]|not provided [RCV003162527] |
Chr16:23635489..23635490 [GRCh38]
Chr16:23646810..23646811 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.108+59C>G |
single nucleotide variant |
Familial cancer of breast [RCV001030119] |
Chr16:23638011 [GRCh38]
Chr16:23649332 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1095G>C (p.Arg365Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001030199] |
Chr16:23635451 [GRCh38]
Chr16:23646772 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.110G>A (p.Arg37His) |
single nucleotide variant |
Familial cancer of breast [RCV000114460]|Familial cancer of breast [RCV002483177]|Hereditary cancer-predisposing syndrome [RCV000116061]|PALB2-related disorder [RCV004739369]|not provided [RCV000212768]|not specified [RCV000780571] |
Chr16:23637951 [GRCh38]
Chr16:23649272 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000114461]|Familial cancer of breast [RCV002483178]|Hereditary cancer-predisposing syndrome [RCV000567033]|not provided [RCV000483203] |
Chr16:23635401 [GRCh38]
Chr16:23646722 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1194G>A (p.Val398=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001170350]|Familial cancer of breast [RCV000114462]|Fanconi anemia complementation group N [RCV000327932]|Hereditary cancer-predisposing syndrome [RCV000127307]|Malignant tumor of breast [RCV001357080]|not provided [RCV000588666]|not specified [RCV000212786] |
Chr16:23635352 [GRCh38]
Chr16:23646673 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798292]|Familial cancer of breast [RCV000114464]|Familial cancer of breast [RCV000515208]|Hereditary cancer-predisposing syndrome [RCV000116063]|Malignant tumor of breast [RCV001358373]|PALB2-related disorder [RCV004739370]|not provided [RCV000590674]|not specified [RCV001797625] |
Chr16:23641147 [GRCh38]
Chr16:23652468 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1222T>C (p.Tyr408His) |
single nucleotide variant |
Familial cancer of breast [RCV000802122]|Hereditary cancer-predisposing syndrome [RCV003362687]|Pancreatic cancer, susceptibility to, 3 [RCV001030206]|not provided [RCV001355987] |
Chr16:23635324 [GRCh38]
Chr16:23646645 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000114466]|Hereditary breast ovarian cancer syndrome [RCV003483472]|Hereditary cancer-predisposing syndrome [RCV000116065]|PALB2-related disorder [RCV004739371]|not provided [RCV000590540]|not specified [RCV001255214] |
Chr16:23635296 [GRCh38]
Chr16:23646617 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1314del (p.Phe440fs) |
deletion |
Familial cancer of breast [RCV003453033]|not provided [RCV001030215] |
Chr16:23635232 [GRCh38]
Chr16:23646553 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1317G>A (p.Gly439=) |
single nucleotide variant |
Familial cancer of breast [RCV001030216]|Hereditary cancer-predisposing syndrome [RCV002381413] |
Chr16:23635229 [GRCh38]
Chr16:23646550 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1317del (p.Phe440fs) |
deletion |
Familial cancer of breast [RCV000114470]|Hereditary breast ovarian cancer syndrome [RCV001193417]|Hereditary cancer-predisposing syndrome [RCV000129522]|not provided [RCV000212789] |
Chr16:23635229 [GRCh38]
Chr16:23646550 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1380A>G (p.Gln460=) |
single nucleotide variant |
Familial cancer of breast [RCV001030220]|Hereditary cancer-predisposing syndrome [RCV001011264] |
Chr16:23635166 [GRCh38]
Chr16:23646487 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000114472]|Hereditary cancer-predisposing syndrome [RCV000116068]|PALB2-related disorder [RCV004739372]|not provided [RCV000589509]|not specified [RCV001818256] |
Chr16:23641145 [GRCh38]
Chr16:23652466 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1419A>C (p.Pro473=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492438]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315610]|Familial cancer of breast [RCV000114473]|Hereditary breast ovarian cancer syndrome [RCV002225294]|Hereditary cancer-predisposing syndrome [RCV000127309]|Malignant tumor of breast [RCV001358133]|not provided [RCV000585974]|not specified [RCV000212794] |
Chr16:23635127 [GRCh38]
Chr16:23646448 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1431C>T (p.Thr477=) |
single nucleotide variant |
Familial cancer of breast [RCV000114474]|Hereditary cancer-predisposing syndrome [RCV000454223]|PALB2-related disorder [RCV004542812]|not provided [RCV000859071]|not specified [RCV000599737] |
Chr16:23635115 [GRCh38]
Chr16:23646436 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1461C>T (p.Val487=) |
single nucleotide variant |
Familial cancer of breast [RCV001030230]|Hereditary cancer-predisposing syndrome [RCV003162528] |
Chr16:23635085 [GRCh38]
Chr16:23646406 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1470C>T (p.Pro490=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798293]|Familial cancer of breast [RCV000114476]|Familial cancer of breast [RCV002490762]|Fanconi anemia complementation group N [RCV000276625]|Hereditary cancer-predisposing syndrome [RCV000127310]|not provided [RCV000586468]|not specified [RCV000212795] |
Chr16:23635076 [GRCh38]
Chr16:23646397 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1475G>T (p.Gly492Val) |
single nucleotide variant |
Familial cancer of breast [RCV001030233] |
Chr16:23635071 [GRCh38]
Chr16:23646392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1479del (p.Thr494fs) |
deletion |
Familial cancer of breast [RCV000114478]|Hereditary breast ovarian cancer syndrome [RCV001193415]|Hereditary cancer-predisposing syndrome [RCV000129889]|not provided [RCV000483204] |
Chr16:23635067 [GRCh38]
Chr16:23646388 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149776]|Familial cancer of breast [RCV000114479]|Familial ovarian cancer [RCV001355376]|Hereditary cancer [RCV004700413]|Hereditary cancer-predisposing syndrome [RCV000129175]|PALB2-related disorder [RCV004528789]|not provided [RCV000586359]|not specified [RCV000235723] |
Chr16:23635002 [GRCh38]
Chr16:23646323 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1572A>G (p.Ser524=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798294]|Familial cancer of breast [RCV000114480]|Fanconi anemia complementation group N [RCV000261837]|Hereditary cancer-predisposing syndrome [RCV000127311]|Malignant tumor of breast [RCV001357887]|not provided [RCV000488265]|not specified [RCV000212796] |
Chr16:23634974 [GRCh38]
Chr16:23646295 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1592del (p.Leu531fs) |
deletion |
Breast cancer, susceptibility to [RCV000001310]|Familial cancer of breast [RCV000114482]|Hereditary breast ovarian cancer syndrome [RCV003155913]|Hereditary cancer-predisposing syndrome [RCV000132474]|not provided [RCV000212797] |
Chr16:23634954 [GRCh38]
Chr16:23646275 [GRCh37]
Chr16:16p12.2 |
pathogenic|risk factor |
| NM_024675.4(PALB2):c.1606C>T (p.Leu536=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492439]|Familial cancer of breast [RCV001030239]|Familial cancer of breast [RCV002498478]|Hereditary cancer-predisposing syndrome [RCV000127312]|Malignant tumor of breast [RCV001355529]|not provided [RCV000587743]|not specified [RCV000212798] |
Chr16:23634940 [GRCh38]
Chr16:23646261 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000114484]|Gastric cancer [RCV003162529]|Hereditary cancer-predisposing syndrome [RCV000131237]|Malignant tumor of breast [RCV001357967]|PALB2-related disorder [RCV004529917]|not provided [RCV000255843] |
Chr16:23634913 [GRCh38]
Chr16:23646234 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1656G>A (p.Gln552=) |
single nucleotide variant |
Familial cancer of breast [RCV001030243]|Hereditary cancer-predisposing syndrome [RCV002399478] |
Chr16:23634890 [GRCh38]
Chr16:23646211 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315611]|Familial cancer of breast [RCV000114486]|Familial cancer of breast [RCV002498479]|Fanconi anemia complementation group N [RCV000395533]|Hereditary breast ovarian cancer syndrome [RCV002225295]|Hereditary cancer-predisposing syndrome [RCV000128962]|not provided [RCV000755593]|not specified [RCV000121747] |
Chr16:23634870 [GRCh38]
Chr16:23646191 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) |
indel |
Familial cancer of breast [RCV001310143]|Fanconi anemia complementation group N [RCV001030245]|Hereditary cancer-predisposing syndrome [RCV000572212]|not provided [RCV000478479] |
Chr16:23634869..23634870 [GRCh38]
Chr16:23646190..23646191 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1684+1597T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030250] |
Chr16:23633265 [GRCh38]
Chr16:23644586 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1684+29A>G |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315612]|Familial cancer of breast [RCV001030246]|Hereditary breast ovarian cancer syndrome [RCV002225296]|Hereditary cancer-predisposing syndrome [RCV000210759]|not provided [RCV001668224]|not specified [RCV000248381] |
Chr16:23634833 [GRCh38]
Chr16:23646154 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1684+18TGA[7] |
microsatellite |
Familial cancer of breast [RCV001030247]|not specified [RCV003321504] |
Chr16:23634821..23634823 [GRCh38]
Chr16:23646142..23646144 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+18TGA[9] |
microsatellite |
Breast and/or ovarian cancer [RCV003149777]|Familial cancer of breast [RCV001030248]|Hereditary breast ovarian cancer syndrome [RCV002225297]|not provided [RCV001529629]|not specified [RCV002267851] |
Chr16:23634820..23634821 [GRCh38]
Chr16:23646141..23646142 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1684+42_1684+43insATG |
insertion |
Familial cancer of breast [RCV001030249] |
Chr16:23634819..23634820 [GRCh38]
Chr16:23646140..23646141 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-58C>A |
single nucleotide variant |
Familial cancer of breast [RCV001030252] |
Chr16:23630527 [GRCh38]
Chr16:23641848 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-70T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030251] |
Chr16:23630539 [GRCh38]
Chr16:23641860 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000114495]|Fanconi anemia complementation group N [RCV001292820]|Hereditary cancer-predisposing syndrome [RCV000116072]|PALB2-related disorder [RCV004529918]|not provided [RCV000588850]|not specified [RCV001171429] |
Chr16:23630455 [GRCh38]
Chr16:23641776 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.172_175del (p.Gln60fs) |
microsatellite |
Breast and/or ovarian cancer [RCV001270993]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004764849]|Colorectal cancer [RCV001543616]|Familial cancer of breast [RCV000114496]|Familial cancer of breast [RCV002490763]|Fanconi anemia complementation group N [RCV001781441]|Hereditary breast ovarian cancer syndrome [RCV001193414]|Hereditary cancer-predisposing syndrome [RCV000116073]|PALB2-related disorder [RCV004739373]|Pancreatic cancer, susceptibility to, 3 [RCV000114497]|not provided [RCV000212770] |
Chr16:23637886..23637889 [GRCh38]
Chr16:23649207..23649210 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.1743A>G (p.Leu581=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492440]|Familial cancer of breast [RCV001030257]|Hereditary cancer-predisposing syndrome [RCV000220391]|PALB2-related disorder [RCV004529919]|not provided [RCV000829294] |
Chr16:23630411 [GRCh38]
Chr16:23641732 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1810C>T (p.Leu604=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798295]|Familial cancer of breast [RCV001030261]|Familial ovarian cancer [RCV001355308]|Hereditary breast ovarian cancer syndrome [RCV002225298]|Hereditary cancer-predisposing syndrome [RCV000160816]|not provided [RCV000679761]|not specified [RCV000212801] |
Chr16:23630344 [GRCh38]
Chr16:23641665 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1881G>T (p.Val627=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149778]|Carcinoma of colon [RCV001358083]|Endometrial carcinoma [RCV001356841]|Familial cancer of breast [RCV001030265]|Familial cancer of breast [RCV002483179]|Hereditary cancer-predisposing syndrome [RCV000127291]|not provided [RCV000590744]|not specified [RCV000212802] |
Chr16:23630273 [GRCh38]
Chr16:23641594 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1935G>A (p.Glu645=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315613]|Familial cancer of breast [RCV000114501]|Familial cancer of breast [RCV002505026]|Hereditary cancer-predisposing syndrome [RCV000167184]|PALB2-related disorder [RCV004542813]|not provided [RCV002477268]|not specified [RCV000427468] |
Chr16:23630219 [GRCh38]
Chr16:23641540 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1947dup (p.Glu650fs) |
duplication |
Breast and/or ovarian cancer [RCV003149779]|Familial cancer of breast [RCV000114502]|Hereditary cancer-predisposing syndrome [RCV000584219] |
Chr16:23630206..23630207 [GRCh38]
Chr16:23641527..23641528 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798296]|Familial cancer of breast [RCV000114503]|Hereditary breast ovarian cancer syndrome [RCV000588616]|Hereditary cancer-predisposing syndrome [RCV000163078]|not provided [RCV000235795] |
Chr16:23637865 [GRCh38]
Chr16:23649186 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315614]|Familial cancer of breast [RCV000114504]|Familial cancer of breast [RCV002498480]|Fanconi anemia complementation group N [RCV000395482]|Hereditary breast ovarian cancer syndrome [RCV002225299]|Hereditary cancer-predisposing syndrome [RCV000127292]|Malignant tumor of breast [RCV001269351]|Ovarian cancer [RCV003153363]|not provided [RCV000857375]|not specified [RCV000121756] |
Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_024675.4(PALB2):c.212-180T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030127] |
Chr16:23636514 [GRCh38]
Chr16:23647835 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-25T>A |
single nucleotide variant |
Familial cancer of breast [RCV001030131] |
Chr16:23636359 [GRCh38]
Chr16:23647680 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-25_212-24insTA |
insertion |
Familial cancer of breast [RCV001030132] |
Chr16:23636358..23636359 [GRCh38]
Chr16:23647679..23647680 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-33A>C |
single nucleotide variant |
Familial cancer of breast [RCV001030130] |
Chr16:23636367 [GRCh38]
Chr16:23647688 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.212-58A>C |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315615]|Familial cancer of breast [RCV001030129]|Hereditary breast ovarian cancer syndrome [RCV002225300]|Hereditary cancer-predisposing syndrome [RCV000210760]|not provided [RCV000835943]|not specified [RCV001729387] |
Chr16:23636392 [GRCh38]
Chr16:23647713 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.212-70T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030128] |
Chr16:23636404 [GRCh38]
Chr16:23636404..23636405 [GRCh38]
Chr16:23647725 [GRCh37]
Chr16:23647725..23647726 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315616]|Familial cancer of breast [RCV000114512]|Familial cancer of breast [RCV002477269]|Fanconi anemia complementation group N [RCV000405151]|Hereditary cancer-predisposing syndrome [RCV000116080]|Malignant tumor of breast [RCV001358176]|not provided [RCV000759185]|not specified [RCV000417394] |
Chr16:23630019 [GRCh38]
Chr16:23641340 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) |
deletion |
Familial cancer of breast [RCV001030283]|Hereditary cancer-predisposing syndrome [RCV002426653]|PALB2-related disorder [RCV004529920]|not provided [RCV003441741] |
Chr16:23630008..23630009 [GRCh38]
Chr16:23641329..23641330 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) |
single nucleotide variant |
Endometrial carcinoma [RCV001358251]|Familial cancer of breast [RCV000114515]|Hereditary cancer-predisposing syndrome [RCV000116081]|Malignant tumor of breast [RCV001356351]|not provided [RCV000586054]|not specified [RCV000855600] |
Chr16:23629954 [GRCh38]
Chr16:23641275 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2205A>G (p.Pro735=) |
single nucleotide variant |
Familial cancer of breast [RCV001030285]|Hereditary cancer-predisposing syndrome [RCV004019604] |
Chr16:23629949 [GRCh38]
Chr16:23641270 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2256A>G (p.Gly752=) |
single nucleotide variant |
Familial cancer of breast [RCV001030291]|Hereditary cancer-predisposing syndrome [RCV000130422]|not provided [RCV000759187]|not specified [RCV000212806] |
Chr16:23629898 [GRCh38]
Chr16:23641219 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2275C>A (p.Gln759Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001030295] |
Chr16:23629879 [GRCh38]
Chr16:23641200 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.229del (p.Cys77fs) |
deletion |
Breast and/or ovarian cancer [RCV001798297]|Colorectal cancer [RCV002267609]|Familial cancer of breast [RCV000114519]|Hereditary cancer-predisposing syndrome [RCV000772121]|not provided [RCV000236050] |
Chr16:23636317 [GRCh38]
Chr16:23647638 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2301C>A (p.Val767=) |
single nucleotide variant |
Familial cancer of breast [RCV001030296]|Hereditary cancer-predisposing syndrome [RCV002444564] |
Chr16:23629853 [GRCh38]
Chr16:23641174 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) |
single nucleotide variant |
Breast cancer, susceptibility to [RCV000144702]|Familial cancer of breast [RCV000114521]|Hereditary breast ovarian cancer syndrome [RCV003155914]|Hereditary cancer-predisposing syndrome [RCV000164897]|Malignant tumor of breast [RCV001355683]|not provided [RCV000413982] |
Chr16:23629831 [GRCh38]
Chr16:23641152 [GRCh37]
Chr16:16p12.2 |
pathogenic|risk factor |
| NM_024675.4(PALB2):c.232G>A (p.Val78Ile) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149780]|Familial cancer of breast [RCV000114522]|Hereditary cancer-predisposing syndrome [RCV000116083]|Malignant tumor of breast [RCV001356931]|PALB2-related disorder [RCV004529921]|not provided [RCV000587015]|not specified [RCV000212771] |
Chr16:23636314 [GRCh38]
Chr16:23647635 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2365C>T (p.Leu789=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798298]|Familial cancer of breast [RCV001030300]|Hereditary cancer-predisposing syndrome [RCV000160817]|not provided [RCV000588448]|not specified [RCV000212810] |
Chr16:23629789 [GRCh38]
Chr16:23641110 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000114524]|Fanconi anemia complementation group N [RCV001781442]|Fanconi anemia complementation group N [RCV003330435]|Hereditary cancer-predisposing syndrome [RCV000129116]|not provided [RCV000236024] |
Chr16:23629768 [GRCh38]
Chr16:23641089 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_024675.3(PALB2):c.2390delA (p.Gln797Hisfs) |
deletion |
Familial cancer of breast [RCV000114525] |
Chr16:23629764 [GRCh38]
Chr16:23641085 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) |
insertion |
Fanconi anemia complementation group N [RCV001030304] |
Chr16:23629760..23629761 [GRCh38]
Chr16:23641081..23641082 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000114527]|Hereditary breast ovarian cancer syndrome [RCV002225301]|Hereditary cancer-predisposing syndrome [RCV000160872]|PALB2-related disorder [RCV004529922]|not provided [RCV000589826] |
Chr16:23641135 [GRCh38]
Chr16:23652456 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2442G>A (p.Glu814=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492441]|Familial cancer of breast [RCV001030308]|Hereditary cancer-predisposing syndrome [RCV000160818]|Malignant tumor of breast [RCV001354891]|not provided [RCV000590716]|not specified [RCV000212812] |
Chr16:23629712 [GRCh38]
Chr16:23641033 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2469C>A (p.Leu823=) |
single nucleotide variant |
Familial cancer of breast [RCV001030309] |
Chr16:23629685 [GRCh38]
Chr16:23641006 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2514+3A>G |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149781]|Familial cancer of breast [RCV000114530]|Hereditary cancer-predisposing syndrome [RCV000573333]|not provided [RCV000160843] |
Chr16:23629637 [GRCh38]
Chr16:23640958 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2514+71del |
deletion |
Familial cancer of breast [RCV001030315] |
Chr16:23629569 [GRCh38]
Chr16:23640890 [GRCh37]
Chr16:16p12.2 |
likely benign |
| PALB2:c.2515-1G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030317]|Familial cancer of breast [RCV001171466]|Hereditary cancer-predisposing syndrome [RCV002426654]|Pancreatic cancer, susceptibility to, 3 [RCV000001312]|not provided [RCV000133479] |
Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor |
| NM_024675.4(PALB2):c.2515-24A>G |
single nucleotide variant |
not provided [RCV001030316] |
Chr16:23629299 [GRCh38]
Chr16:23640620 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2521del (p.Thr841fs) |
deletion |
Familial cancer of breast [RCV003500504]|not provided [RCV001030318] |
Chr16:23629269 [GRCh38]
Chr16:23640590 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2559C>T (p.Gly853=) |
single nucleotide variant |
Familial cancer of breast [RCV000114536]|Familial cancer of breast [RCV001171467]|Hereditary cancer-predisposing syndrome [RCV000116088]|not provided [RCV000212813] |
Chr16:23629231 [GRCh38]
Chr16:23640552 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2586+10A>G |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149782]|Endometrial carcinoma [RCV001358400]|Familial cancer of breast [RCV000114537]|Fanconi anemia complementation group N [RCV001118200]|Hereditary cancer-predisposing syndrome [RCV000580770]|not provided [RCV000588544]|not specified [RCV000127295] |
Chr16:23629194 [GRCh38]
Chr16:23640515 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2586+31T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030323] |
Chr16:23629173 [GRCh38]
Chr16:23640494 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+58C>T |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315617]|Familial cancer of breast [RCV001030324]|Hereditary breast ovarian cancer syndrome [RCV002225302]|not provided [RCV001698580]|not specified [RCV001689641] |
Chr16:23629146 [GRCh38]
Chr16:23629146..23629147 [GRCh38]
Chr16:23640467 [GRCh37]
Chr16:23640467..23640468 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2586+81C>T |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315618]|Familial cancer of breast [RCV001030325]|Hereditary breast ovarian cancer syndrome [RCV002225303]|not provided [RCV001566290] |
Chr16:23629123 [GRCh38]
Chr16:23640444 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2587-37G>C |
single nucleotide variant |
Familial cancer of breast [RCV001030329] |
Chr16:23626434 [GRCh38]
Chr16:23637755 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-38C>G |
single nucleotide variant |
Familial cancer of breast [RCV001030328]|not provided [RCV001682801]|not specified [RCV002267852] |
Chr16:23626435 [GRCh38]
Chr16:23637756 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-59T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030327] |
Chr16:23626456 [GRCh38]
Chr16:23637777 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.2587-?_3201+?del (p.Asn863_Met1067del) |
deletion |
Familial cancer of breast [RCV000114544] |
|
pathogenic |
| NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149783]|Breast carcinoma [RCV001572628]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315619]|Familial cancer of breast [RCV000114545]|Familial cancer of breast [RCV002490764]|Fanconi anemia complementation group N [RCV000322970]|Hereditary cancer-predisposing syndrome [RCV000116089]|Malignant tumor of breast [RCV001269370]|not provided [RCV000487583]|not specified [RCV000121759] |
Chr16:23626394 [GRCh38]
Chr16:23637715 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000114547]|Familial cancer of breast [RCV002490765]|Hereditary cancer-predisposing syndrome [RCV000572146]|Malignant tumor of breast [RCV001356501]|not provided [RCV000522335] |
Chr16:23626372 [GRCh38]
Chr16:23637693 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2661C>A (p.Ile887=) |
single nucleotide variant |
Familial cancer of breast [RCV001030339] |
Chr16:23626323 [GRCh38]
Chr16:23637644 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000114549]|Familial cancer of breast [RCV003483473]|Fanconi anemia complementation group N [RCV001118198]|Hereditary cancer-predisposing syndrome [RCV000131257]|PALB2-related disorder [RCV004739374]|not provided [RCV000587708]|not specified [RCV000483553] |
Chr16:23626310 [GRCh38]
Chr16:23637631 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2686dup (p.Ser896fs) |
duplication |
Familial cancer of breast [RCV001030340]|Hereditary cancer-predisposing syndrome [RCV000563499]|not provided [RCV000486793] |
Chr16:23626297..23626298 [GRCh38]
Chr16:23637618..23637619 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.26T>A (p.Leu9His) |
single nucleotide variant |
Familial cancer of breast [RCV001030104] |
Chr16:23641132 [GRCh38]
Chr16:23652453 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000114552]|Familial cancer of breast [RCV002498481]|Hereditary cancer-predisposing syndrome [RCV000562748]|not provided [RCV000255170] |
Chr16:23626266 [GRCh38]
Chr16:23637587 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000114553]|Hereditary cancer-predisposing syndrome [RCV000454363]|not provided [RCV000589395] |
Chr16:23626252 [GRCh38]
Chr16:23637573 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+121T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030341] |
Chr16:23626115 [GRCh38]
Chr16:23637436 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-18C>T |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149784]|Familial cancer of breast [RCV000114555]|Hereditary breast ovarian cancer syndrome [RCV004764763]|Hereditary cancer-predisposing syndrome [RCV000127298]|not provided [RCV000679766]|not specified [RCV000212817] |
Chr16:23624112 [GRCh38]
Chr16:23635433 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000114556]|Hereditary cancer-predisposing syndrome [RCV000165106]|not provided [RCV000478088]|not specified [RCV001171432] |
Chr16:23624091 [GRCh38]
Chr16:23635412 [GRCh37]
Chr16:16p12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030342]|Hereditary cancer-predisposing syndrome [RCV003162530] |
Chr16:23624082 [GRCh38]
Chr16:23635403 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798299]|Familial cancer of breast [RCV000114558]|Familial cancer of breast [RCV000764047]|Hereditary cancer-predisposing syndrome [RCV000129279]|not provided [RCV000235847] |
Chr16:23624070 [GRCh38]
Chr16:23635391 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2794G>A (p.Val932Met) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149785]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315620]|Familial cancer of breast [RCV000114559]|Familial cancer of breast [RCV002498482]|Familial ovarian cancer [RCV001357367]|Fanconi anemia complementation group N [RCV001118197]|Hereditary cancer-predisposing syndrome [RCV000116090]|Malignant tumor of breast [RCV001356378]|not provided [RCV000514905]|not specified [RCV000121760] |
Chr16:23624049 [GRCh38]
Chr16:23635370 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001170349]|Familial cancer of breast [RCV000114561]|Fanconi anemia complementation group N [RCV000306515]|Hereditary breast ovarian cancer syndrome [RCV004760375]|Hereditary cancer-predisposing syndrome [RCV000116092]|Malignant tumor of breast [RCV001356702]|PALB2-related disorder [RCV004528790]|not provided [RCV000586156]|not specified [RCV000417395] |
Chr16:23624027 [GRCh38]
Chr16:23635348 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.2823C>A (p.Ile941=) |
single nucleotide variant |
Familial cancer of breast [RCV001030345]|Hereditary cancer-predisposing syndrome [RCV002433601] |
Chr16:23624020 [GRCh38]
Chr16:23635341 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+12C>T |
single nucleotide variant |
Familial cancer of breast [RCV001030348] |
Chr16:23623997 [GRCh38]
Chr16:23635318 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+20T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030349] |
Chr16:23623989 [GRCh38]
Chr16:23635310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+21_2834+27del |
deletion |
Familial cancer of breast [RCV001030350] |
Chr16:23623982..23623988 [GRCh38]
Chr16:23635303..23635309 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000114567]|Familial cancer of breast [RCV001171468]|Hereditary cancer-predisposing syndrome [RCV000220116]|not provided [RCV004589552] |
Chr16:23623131 [GRCh38]
Chr16:23634452 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2835-27C>T |
single nucleotide variant |
Familial cancer of breast [RCV001030353]|Hereditary breast ovarian cancer syndrome [RCV002225304]|not provided [RCV004704850]|not specified [RCV002267853] |
Chr16:23623157 [GRCh38]
Chr16:23634478 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2837C>G (p.Ala946Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001030354] |
Chr16:23623128 [GRCh38]
Chr16:23634449 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001030355]|Fanconi anemia complementation group N [RCV000397940]|Hereditary cancer-predisposing syndrome [RCV000129725]|not provided [RCV000589520]|not specified [RCV000121763] |
Chr16:23623114 [GRCh38]
Chr16:23634435 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.2859T>C (p.Asp953=) |
single nucleotide variant |
Familial cancer of breast [RCV000114571]|Hereditary cancer-predisposing syndrome [RCV000573602]|not provided [RCV001697043] |
Chr16:23623106 [GRCh38]
Chr16:23634427 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2865T>A (p.Ser955Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001030356] |
Chr16:23623100 [GRCh38]
Chr16:23634421 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000114573]|Familial cancer of breast [RCV000764046]|Hereditary cancer-predisposing syndrome [RCV000160848]|not provided [RCV000212818]|not specified [RCV003226198] |
Chr16:23623096 [GRCh38]
Chr16:23634417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000114574]|Hereditary cancer-predisposing syndrome [RCV000131197]|PALB2-related disorder [RCV004545746]|not provided [RCV001704012]|not specified [RCV000215879] |
Chr16:23623062 [GRCh38]
Chr16:23634383 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) |
deletion |
Familial cancer of breast [RCV000114575]|Familial cancer of breast [RCV002477270]|Fanconi anemia complementation group N [RCV001781443]|Hereditary breast ovarian cancer syndrome [RCV000589949]|Hereditary cancer-predisposing syndrome [RCV000132234]|not provided [RCV000133483] |
Chr16:23623044..23623045 [GRCh38]
Chr16:23634365..23634366 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2982dup (p.Ala995fs) |
duplication |
Familial cancer of breast [RCV000114576]|Hereditary cancer-predisposing syndrome [RCV000213482]|not provided [RCV003229810] |
Chr16:23622982..23622983 [GRCh38]
Chr16:23634303..23634304 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492442]|Familial cancer of breast [RCV000114577]|Fanconi anemia complementation group N [RCV001119843]|Fanconi anemia complementation group N [RCV001249253]|Hereditary cancer-predisposing syndrome [RCV000116095]|PALB2-related disorder [RCV004528791]|Pancreatic cancer, susceptibility to, 3 [RCV001355228]|not provided [RCV000212772]|not specified [RCV001192907] |
Chr16:23636248 [GRCh38]
Chr16:23647569 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315621]|Familial cancer of breast [RCV000114578]|Familial cancer of breast [RCV002498483]|Fanconi anemia complementation group N [RCV000372394]|Hereditary breast ovarian cancer syndrome [RCV002225305]|Hereditary cancer-predisposing syndrome [RCV000127300]|Malignant tumor of breast [RCV001356229]|Ovarian cancer [RCV003153364]|not provided [RCV000755594]|not specified [RCV000121762] |
Chr16:23622972 [GRCh38]
Chr16:23634293 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records|not provided |
| NM_024675.4(PALB2):c.2996+124C>T |
single nucleotide variant |
Familial cancer of breast [RCV001030362] |
Chr16:23622845 [GRCh38]
Chr16:23634166 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+17T>C |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149786]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315622]|Familial cancer of breast [RCV000114581]|Familial cancer of breast [RCV002498484]|Hereditary cancer-predisposing syndrome [RCV000127301]|not provided [RCV001529642]|not specified [RCV000212820] |
Chr16:23622952 [GRCh38]
Chr16:23634273 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2996+183del |
deletion |
Familial cancer of breast [RCV001030363]|not provided [RCV001647124] |
Chr16:23622786 [GRCh38]
Chr16:23634107 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2996+58T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030361] |
Chr16:23622911 [GRCh38]
Chr16:23634232 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-624G>C |
single nucleotide variant |
Familial cancer of breast [RCV001030364] |
Chr16:23622102 [GRCh38]
Chr16:23633423 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3024C>T (p.Pro1008=) |
single nucleotide variant |
Familial cancer of breast [RCV001030366]|Hereditary cancer-predisposing syndrome [RCV000575457]|Malignant tumor of breast [RCV001355003] |
Chr16:23621451 [GRCh38]
Chr16:23632772 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3026del (p.Pro1009fs) |
deletion |
Familial cancer of breast [RCV000114586]|Hereditary breast ovarian cancer syndrome [RCV003155915]|Hereditary cancer-predisposing syndrome [RCV000584711]|not provided [RCV000133484] |
Chr16:23621449 [GRCh38]
Chr16:23632770 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3048del (p.Phe1016fs) |
deletion |
Familial cancer of breast [RCV000114587]|Familial cancer of breast [RCV002477271]|Hereditary breast ovarian cancer syndrome [RCV001193464]|Hereditary cancer-predisposing syndrome [RCV000129785]|PALB2-related disorder [RCV004739375]|not provided [RCV000412897] |
Chr16:23621427 [GRCh38]
Chr16:23632748 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000114588]|Fanconi anemia complementation group N [RCV000286032]|Hereditary breast ovarian cancer syndrome [RCV001030645]|Hereditary cancer-predisposing syndrome [RCV000130354]|Malignant tumor of breast [RCV001356371]|PALB2-related disorder [RCV004529923]|not provided [RCV000858970]|not specified [RCV000212821] |
Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000114589]|Hereditary cancer-predisposing syndrome [RCV000131550]|not provided [RCV000235226]|not specified [RCV001192771] |
Chr16:23621419 [GRCh38]
Chr16:23632740 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3113+131G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030382] |
Chr16:23621231 [GRCh38]
Chr16:23632552 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492443]|Breast cancer, susceptibility to [RCV000144703]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389455]|Familial cancer of breast [RCV000114591]|Familial cancer of breast [RCV001171469]|Fanconi anemia complementation group N [RCV001535480]|Hereditary breast ovarian cancer syndrome [RCV000588093]|Hereditary cancer-predisposing syndrome [RCV000116096]|Inherited breast cancer and ovarian cancer [RCV004584191]|Inherited ovarian cancer (without breast cancer) [RCV004584192]|NICE approved PARP inhibitor treatment [RCV004577322]|PALB2-related disorder [RCV004528792]|not provided [RCV000212822] |
Chr16:23621362 [GRCh38]
Chr16:23632683 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.3114-40T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030387] |
Chr16:23614131 [GRCh38]
Chr16:23625452 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-42G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030386]|Hereditary cancer-predisposing syndrome [RCV000208880] |
Chr16:23614133 [GRCh38]
Chr16:23625454 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-51= |
single nucleotide variant |
Familial cancer of breast [RCV001030385]|not provided [RCV001650947]|not specified [RCV001689642] |
Chr16:23614142 [GRCh38]
Chr16:23625463 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3116del (p.Asn1039fs) |
deletion |
Breast and/or ovarian cancer [RCV003149787]|Breast cancer, susceptibility to [RCV000001309]|Familial cancer of breast [RCV000114595]|Familial cancer of breast [RCV002498485]|Fanconi anemia complementation group N [RCV000114596]|Hereditary breast ovarian cancer syndrome [RCV003235042]|Hereditary cancer-predisposing syndrome [RCV000131150]|Malignant tumor of breast [RCV001357097]|PALB2-related disorder [RCV004739376]|Pancreatic cancer, susceptibility to, 3 [RCV000114597]|not provided [RCV000235691] |
Chr16:23614089 [GRCh38]
Chr16:23625410 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000114598]|Familial cancer of breast [RCV002483180]|Hereditary cancer-predisposing syndrome [RCV000131630]|not provided [RCV000485289]|not specified [RCV000780560] |
Chr16:23614077 [GRCh38]
Chr16:23625398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3143A>G (p.Lys1048Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001030391]|Hereditary cancer-predisposing syndrome [RCV000772055] |
Chr16:23614062 [GRCh38]
Chr16:23625383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000114600]|Familial cancer of breast [RCV002490766]|Hereditary cancer-predisposing syndrome [RCV000116099]|PALB2-related disorder [RCV004529924]|not provided [RCV000212773]|not specified [RCV001174951] |
Chr16:23636231 [GRCh38]
Chr16:23647552 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3201+1125T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030397] |
Chr16:23612879 [GRCh38]
Chr16:23624200 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+112A>G |
single nucleotide variant |
Familial cancer of breast [RCV001030395] |
Chr16:23613892 [GRCh38]
Chr16:23625213 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+115T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030396] |
Chr16:23613889 [GRCh38]
Chr16:23625210 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+96G>A |
single nucleotide variant |
Familial cancer of breast [RCV001030394]|Hereditary breast ovarian cancer syndrome [RCV002225306]|not provided [RCV004703236] |
Chr16:23613908 [GRCh38]
Chr16:23625229 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3202-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000114605]|Hereditary cancer-predisposing syndrome [RCV002321588]|not provided [RCV000160851] |
Chr16:23608013 [GRCh38]
Chr16:23619334 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3202-45A>G |
single nucleotide variant |
Familial cancer of breast [RCV001030398] |
Chr16:23608057 [GRCh38]
Chr16:23619378 [GRCh37]
Chr16:16p12.2 |
likely benign |
| PALB2:c.3202-?_*297del (p.Gly1068_Ser1186delins45) |
deletion |
Familial cancer of breast [RCV000114607]|Pancreatic cancer 3 [RCV000114608] |
Chr16:23603162..23608012 [GRCh38]
Chr16:23614483..23619333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) |
single nucleotide variant |
Anaplastic ependymoma [RCV000761171]|Familial cancer of breast [RCV000114609]|Hereditary cancer-predisposing syndrome [RCV000116102]|PALB2-related disorder [RCV004529925]|not provided [RCV000656939]|not specified [RCV000212823] |
Chr16:23607965 [GRCh38]
Chr16:23619286 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000114610]|Familial cancer of breast [RCV000764043]|Fanconi anemia complementation group N [RCV001116749]|Hereditary cancer-predisposing syndrome [RCV000160852]|Malignant tumor of breast [RCV001358132]|PALB2-related disorder [RCV004739377]|not provided [RCV000656940]|not specified [RCV003493439] |
Chr16:23607963 [GRCh38]
Chr16:23619284 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) |
single nucleotide variant |
Familial cancer of breast [RCV001030401]|Familial cancer of breast [RCV002498486]|Hereditary cancer-predisposing syndrome [RCV000162543]|not provided [RCV000588828]|not specified [RCV000506618] |
Chr16:23607962 [GRCh38]
Chr16:23619283 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149788]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315406]|Familial cancer of breast [RCV000168017]|Familial cancer of breast [RCV002490767]|Gastric cancer [RCV003162531]|Hereditary breast ovarian cancer syndrome [RCV001030644]|Hereditary cancer-predisposing syndrome [RCV000160853]|Malignant tumor of breast [RCV002307393]|PALB2-related disorder [RCV004528793]|Pancreatic cancer, susceptibility to, 3 [RCV000114612]|not provided [RCV000212825] |
Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315623]|Familial cancer of breast [RCV000114613]|Familial cancer of breast [RCV002498487]|Fanconi anemia complementation group N [RCV000321267]|Hereditary breast ovarian cancer syndrome [RCV002225307]|Hereditary cancer-predisposing syndrome [RCV000162360]|Malignant tumor of breast [RCV001355729]|not provided [RCV000857374]|not specified [RCV000250631] |
Chr16:23607914 [GRCh38]
Chr16:23619235 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000114615]|Hereditary cancer-predisposing syndrome [RCV000216794]|not specified [RCV002267854] |
Chr16:23607908 [GRCh38]
Chr16:23619229 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) |
single nucleotide variant |
Familial cancer of breast [RCV000114616]|Hereditary breast ovarian cancer syndrome [RCV001030643]|Hereditary cancer-predisposing syndrome [RCV000116103]|PALB2-related disorder [RCV004739378]|not provided [RCV000656941]|not specified [RCV000212827] |
Chr16:23607907 [GRCh38]
Chr16:23619228 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3321G>A (p.Leu1107=) |
single nucleotide variant |
Familial cancer of breast [RCV001030409]|Hereditary cancer-predisposing syndrome [RCV001019988] |
Chr16:23607893 [GRCh38]
Chr16:23619214 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) |
deletion |
Familial cancer of breast [RCV000168157]|Familial cancer of breast [RCV002498488]|Fanconi anemia complementation group N [RCV000114618]|Hereditary breast ovarian cancer syndrome [RCV000590634]|Hereditary cancer-predisposing syndrome [RCV000132282]|Malignant tumor of breast [RCV001356710]|not provided [RCV000235326] |
Chr16:23607891 [GRCh38]
Chr16:23619212 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3350+11A>G |
single nucleotide variant |
Familial cancer of breast [RCV001030411]|Fanconi anemia complementation group N [RCV002466432]|not specified [RCV000424366] |
Chr16:23607853 [GRCh38]
Chr16:23619174 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3350+16T>G |
single nucleotide variant |
Familial cancer of breast [RCV001030412]|Familial cancer of breast [RCV002498489]|Hereditary cancer-predisposing syndrome [RCV000581930] |
Chr16:23607848 [GRCh38]
Chr16:23619169 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+4A>G |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315407]|Familial cancer of breast [RCV000114621]|Hereditary cancer-predisposing syndrome [RCV000213830]|PALB2-related disorder [RCV004528794]|not provided [RCV000433683] |
Chr16:23607860 [GRCh38]
Chr16:23619181 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000114623]|Hereditary cancer-predisposing syndrome [RCV000574823]|not provided [RCV000481742] |
Chr16:23603664 [GRCh38]
Chr16:23614985 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3362del (p.Gly1121fs) |
deletion |
Breast and/or ovarian cancer [RCV001798300]|Familial cancer of breast [RCV000114624]|Hereditary breast ovarian cancer syndrome [RCV001193463]|Hereditary cancer-predisposing syndrome [RCV000130740]|Malignant tumor of breast [RCV001355561]|not provided [RCV000235614] |
Chr16:23603658 [GRCh38]
Chr16:23614979 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) |
single nucleotide variant |
Familial cancer of breast [RCV000114625]|Familial cancer of breast [RCV000764041]|Hereditary cancer-predisposing syndrome [RCV000116104]|PALB2-related disorder [RCV004528795]|bilateral breast cancer [RCV001004833]|not provided [RCV000585950]|not specified [RCV001804169] |
Chr16:23603592 [GRCh38]
Chr16:23614913 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000114626]|Familial cancer of breast [RCV000764040]|Hereditary cancer-predisposing syndrome [RCV001020276] |
Chr16:23603592 [GRCh38]
Chr16:23614913 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3433G>C (p.Gly1145Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001030417]|Hereditary cancer-predisposing syndrome [RCV002453423] |
Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.344G>T (p.Gly115Val) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149789]|Familial cancer of breast [RCV000114628]|Hereditary cancer-predisposing syndrome [RCV000165559]|Malignant tumor of breast [RCV001357627]|PALB2-related disorder [RCV004528796]|not provided [RCV000589320] |
Chr16:23636202 [GRCh38]
Chr16:23647523 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) |
single nucleotide variant |
Familial cancer of breast [RCV000114629]|Hereditary cancer-predisposing syndrome [RCV000163039]|not provided [RCV001719855] |
Chr16:23603537 [GRCh38]
Chr16:23614858 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798301]|Familial cancer of breast [RCV001082966]|Fanconi anemia complementation group N [RCV000384114]|Hereditary cancer-predisposing syndrome [RCV000127303]|Malignant tumor of breast [RCV001355544]|PALB2-related disorder [RCV004739379]|not provided [RCV000586081]|not specified [RCV000212828] |
Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.3497del (p.Gly1166fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002453424]|not provided [RCV001030419] |
Chr16:23603523 [GRCh38]
Chr16:23614844 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000114633]|Hereditary cancer-predisposing syndrome [RCV000569135]|PALB2-related disorder [RCV004739380]|not provided [RCV000479423]|not specified [RCV001824604] |
Chr16:23603481 [GRCh38]
Chr16:23614802 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.395del (p.Val132fs) |
deletion |
Familial cancer of breast [RCV000700247]|Fanconi anemia complementation group N [RCV001030150]|Hereditary cancer-predisposing syndrome [RCV001021525] |
Chr16:23636151 [GRCh38]
Chr16:23647472 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798302]|Familial cancer of breast [RCV000114637]|Hereditary breast ovarian cancer syndrome [RCV002225308]|Hereditary cancer-predisposing syndrome [RCV000128994]|not provided [RCV000590187]|not specified [RCV000200990] |
Chr16:23636146 [GRCh38]
Chr16:23647467 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.48+1G>C |
single nucleotide variant |
Familial cancer of breast [RCV001030106]|Hereditary cancer-predisposing syndrome [RCV000213648]|not provided [RCV000236723] |
Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.48+27G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030107] |
Chr16:23641083 [GRCh38]
Chr16:23652404 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-173G>T |
single nucleotide variant |
Familial cancer of breast [RCV001030108] |
Chr16:23638302 [GRCh38]
Chr16:23649623 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-54C>T |
single nucleotide variant |
Familial cancer of breast [RCV001030109]|not provided [RCV004703237] |
Chr16:23638183 [GRCh38]
Chr16:23649504 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000114642]|Hereditary cancer-predisposing syndrome [RCV000562468]|not provided [RCV003332116] |
Chr16:23636043 [GRCh38]
Chr16:23647364 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.505C>A (p.Leu169Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001030154]|Hereditary cancer-predisposing syndrome [RCV002336247] |
Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.3(PALB2):c.508_509delAG (p.Arg170Ilefs) |
deletion |
Familial cancer of breast [RCV000114644] |
Chr16:23636037..23636038 [GRCh38]
Chr16:23647358..23647359 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.509_510del (p.Arg170fs) |
deletion |
Breast and/or ovarian cancer [RCV001270995]|Breast carcinoma [RCV001554297]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003322596]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004562253]|Carcinoma of pancreas [RCV001391207]|Familial cancer of breast [RCV000114645]|Familial cancer of breast [RCV002505027]|Fanconi anemia complementation group N [RCV003137629]|Hereditary breast ovarian cancer syndrome [RCV003155916]|Hereditary cancer-predisposing syndrome [RCV000130658]|Malignant tumor of breast [RCV001356172]|PALB2-related disorder [RCV004528797]|Pancreatic cancer, susceptibility to, 3 [RCV001258079]|not provided [RCV000212776]|not specified [RCV001000478] |
Chr16:23636036..23636037 [GRCh38]
Chr16:23647357..23647358 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000114647]|Fanconi anemia complementation group N [RCV000376271]|Hereditary breast ovarian cancer syndrome [RCV002225309]|Hereditary cancer-predisposing syndrome [RCV000129207]|not provided [RCV000440737]|not specified [RCV000121743] |
Chr16:23638125 [GRCh38]
Chr16:23649446 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.618T>G (p.Leu206=) |
single nucleotide variant |
Familial cancer of breast [RCV001030161] |
Chr16:23635928 [GRCh38]
Chr16:23647249 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.620C>G (p.Pro207Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000114649]|Hereditary cancer-predisposing syndrome [RCV000776330]|not provided [RCV001572249] |
Chr16:23635926 [GRCh38]
Chr16:23647247 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798303]|Familial cancer of breast [RCV000114650]|Fanconi anemia complementation group N [RCV000306267]|Hereditary breast ovarian cancer syndrome [RCV002225310]|Hereditary cancer-predisposing syndrome [RCV000131969]|Malignant tumor of breast [RCV001358034]|not provided [RCV001705820]|not specified [RCV000121750] |
Chr16:23635917 [GRCh38]
Chr16:23647238 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.632A>G (p.Glu211Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000114651]|Hereditary cancer-predisposing syndrome [RCV001025140]|not specified [RCV003493440] |
Chr16:23635914 [GRCh38]
Chr16:23647235 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000114652]|Hereditary cancer [RCV003492444]|Hereditary cancer-predisposing syndrome [RCV000129603]|PALB2-related disorder [RCV004542814]|not provided [RCV000589693]|not specified [RCV000855601] |
Chr16:23635890 [GRCh38]
Chr16:23647211 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.697del (p.Val233fs) |
deletion |
Breast and/or ovarian cancer [RCV001270997]|Familial cancer of breast [RCV000114653]|Hereditary cancer-predisposing syndrome [RCV000771207]|not provided [RCV000481242] |
Chr16:23635849 [GRCh38]
Chr16:23647170 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492445]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315624]|Familial cancer of breast [RCV001083216]|Hereditary breast ovarian cancer syndrome [RCV002225311]|Hereditary cancer-predisposing syndrome [RCV000116111]|Malignant tumor of breast [RCV001356373]|not provided [RCV000587175]|not specified [RCV000121748] |
Chr16:23635825 [GRCh38]
Chr16:23647146 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_024675.4(PALB2):c.72del (p.Arg26fs) |
deletion |
Familial cancer of breast [RCV000114655]|Hereditary cancer-predisposing syndrome [RCV000164203]|not provided [RCV001030114] |
Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492446]|Familial cancer of breast [RCV000114657]|Hereditary cancer-predisposing syndrome [RCV000210097]|not provided [RCV000413603] |
Chr16:23635795 [GRCh38]
Chr16:23647116 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.757_758del (p.Leu253fs) |
microsatellite |
Breast and/or ovarian cancer [RCV003492447]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003128230]|Familial cancer of breast [RCV000114658]|Familial cancer of breast [RCV002505028]|Fanconi anemia complementation group N [RCV000114659]|Fanconi anemia complementation group N [RCV001535793]|Hereditary breast ovarian cancer syndrome [RCV004760376]|Hereditary cancer-predisposing syndrome [RCV000116112]|PALB2-related disorder [RCV004739381]|not provided [RCV000212779] |
Chr16:23635788..23635789 [GRCh38]
Chr16:23647109..23647110 [GRCh37]
Chr16:16p12.2 |
pathogenic|not provided |
| NM_024675.4(PALB2):c.758dup (p.Ser254fs) |
duplication |
Familial cancer of breast [RCV000114661]|Familial cancer of breast [RCV002505029]|Hereditary breast ovarian cancer syndrome [RCV001293421]|Hereditary cancer-predisposing syndrome [RCV000129208]|PALB2-related disorder [RCV004542815]|not provided [RCV000212780] |
Chr16:23635787..23635788 [GRCh38]
Chr16:23647108..23647109 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.765T>C (p.Asp255=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149790]|Familial cancer of breast [RCV000114662]|Familial cancer of breast [RCV002490768]|Fanconi anemia [RCV000338727]|Hereditary cancer-predisposing syndrome [RCV000215345]|PALB2-related disorder [RCV004529926]|not provided [RCV000590553] |
Chr16:23635781 [GRCh38]
Chr16:23647102 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.807T>C (p.Gly269=) |
single nucleotide variant |
Familial cancer of breast [RCV000114663]|Hereditary cancer-predisposing syndrome [RCV000218873]|not provided [RCV001704013] |
Chr16:23635739 [GRCh38]
Chr16:23647060 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000114664]|Familial cancer of breast [RCV002483181]|Hereditary cancer-predisposing syndrome [RCV000165689]|not provided [RCV003477491]|not specified [RCV004595926] |
Chr16:23635732 [GRCh38]
Chr16:23647053 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.832C>G (p.Leu278Val) |
single nucleotide variant |
Familial cancer of breast [RCV001030180] |
Chr16:23635714 [GRCh38]
Chr16:23647035 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000114666]|Hereditary cancer-predisposing syndrome [RCV000220533] |
Chr16:23638095 [GRCh38]
Chr16:23649416 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000114667]|Hereditary cancer-predisposing syndrome [RCV001017979]|not provided [RCV004691752] |
Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.897T>C (p.Ser299=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798304]|Familial cancer of breast [RCV000114668]|Fanconi anemia complementation group N [RCV001118310]|Hereditary cancer-predisposing syndrome [RCV000566337]|not provided [RCV000858848]|not specified [RCV000419649] |
Chr16:23635649 [GRCh38]
Chr16:23646970 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000114669]|Hereditary cancer-predisposing syndrome [RCV000219489]|Malignant tumor of breast [RCV001354467]|not provided [RCV001284670]|not specified [RCV000121751] |
Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.909C>T (p.Leu303=) |
single nucleotide variant |
Familial cancer of breast [RCV000114670]|Fanconi anemia complementation group N [RCV000300127]|Hereditary cancer-predisposing syndrome [RCV000127304]|Malignant tumor of breast [RCV001358321]|not provided [RCV001531848]|not specified [RCV000212781] |
Chr16:23635637 [GRCh38]
Chr16:23646958 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.90G>T (p.Lys30Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001030118] |
Chr16:23638088 [GRCh38]
Chr16:23649409 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.925A>G (p.Ile309Val) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315625]|Familial cancer of breast [RCV000114672]|Fanconi anemia complementation group N [RCV000335364]|Hereditary breast ovarian cancer syndrome [RCV002225312]|Hereditary cancer-predisposing syndrome [RCV000129841]|Malignant tumor of breast [RCV001357007]|not provided [RCV000757594]|not specified [RCV000121749] |
Chr16:23635621 [GRCh38]
Chr16:23646942 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_024675.4(PALB2):c.94C>G (p.Leu32Val) |
single nucleotide variant |
Familial cancer of breast [RCV000114673]|Fanconi anemia complementation group N [RCV001119845]|Hereditary cancer-predisposing syndrome [RCV000116117]|Malignant tumor of breast [RCV001357251]|PALB2-related disorder [RCV004529927]|not provided [RCV000656932]|not specified [RCV000121744] |
Chr16:23638084 [GRCh38]
Chr16:23649405 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.956C>A (p.Ser319Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000114674]|Hereditary cancer-predisposing syndrome [RCV000574080] |
Chr16:23635590 [GRCh38]
Chr16:23646911 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.999C>T (p.Thr333=) |
single nucleotide variant |
Familial cancer of breast [RCV000114675]|Hereditary cancer-predisposing syndrome [RCV001525986] |
Chr16:23635547 [GRCh38]
Chr16:23646868 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.3(PALB2):c.3201+2109G>C |
single nucleotide variant |
Lung cancer [RCV000099832] |
Chr16:23611895 [GRCh38]
Chr16:23623216 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 |
copy number gain |
See cases [RCV000051829] |
Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 |
copy number gain |
See cases [RCV000051842] |
Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 |
copy number gain |
See cases [RCV000052401] |
Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 |
copy number loss |
See cases [RCV000052519] |
Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1 |
pathogenic |
| NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000704434]|Hereditary cancer-predisposing syndrome [RCV000774635]|PALB2-related disorder [RCV004537269]|not provided [RCV001572169]|not specified [RCV003226185] |
Chr16:23630097 [GRCh38]
Chr16:23641418 [GRCh37]
Chr16:23548919 [NCBI36]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.820dup (p.Thr274fs) |
duplication |
Familial cancer of breast [RCV003451585]|Hereditary breast ovarian cancer syndrome [RCV001030717]|Hereditary cancer-predisposing syndrome [RCV001027286]|not provided [RCV000657281] |
Chr16:23635725..23635726 [GRCh38]
Chr16:23647046..23647047 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2619del (p.Ser873fs) |
deletion |
not provided [RCV000657352] |
Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1845del (p.Asp616fs) |
deletion |
Familial cancer of breast [RCV003607340]|not provided [RCV000657402] |
Chr16:23630309 [GRCh38]
Chr16:23641630 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1675_1676delinsTG |
inversion |
Familial cancer of breast [RCV000635816]|Familial cancer of breast [RCV002490784]|Hereditary cancer-predisposing syndrome [RCV000116070]|Malignant tumor of breast [RCV001280657]|PALB2-related disorder [RCV004739404]|Precursor B-cell acute lymphoblastic leukemia [RCV000722029]|not provided [RCV000235193] |
Chr16:23634870..23634871 [GRCh38]
Chr16:23646191..23646192 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3:c.2145_2146delTA |
deletion |
Familial cancer of breast [RCV000114514] |
Chr16:23630008..23630009 [GRCh38]
Chr16:23641329..23641330 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000204740]|Familial cancer of breast [RCV002483189]|Hereditary cancer-predisposing syndrome [RCV000568625]|not provided [RCV000116062] |
Chr16:23635418 [GRCh38]
Chr16:23646739 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668783]|Familial cancer of breast [RCV000123331]|Familial cancer of breast [RCV002477287]|Gastric cancer [RCV003162546]|Hereditary breast ovarian cancer syndrome [RCV000588541]|Hereditary cancer-predisposing syndrome [RCV000116064]|Malignant tumor of breast [RCV001354096]|PALB2-related disorder [RCV004529946]|Pancreatic cancer, susceptibility to, 3 [RCV004555854]|not provided [RCV000254674] |
Chr16:23635306 [GRCh38]
Chr16:23646627 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1347A>G (p.Lys449=) |
single nucleotide variant |
Familial cancer of breast [RCV001087089]|Hereditary cancer-predisposing syndrome [RCV000116066]|Pancreatic cancer, susceptibility to, 3 [RCV001356241]|not provided [RCV000590184]|not specified [RCV001818286] |
Chr16:23635199 [GRCh38]
Chr16:23646520 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.1348A>C (p.Asn450His) |
single nucleotide variant |
Familial cancer of breast [RCV000198442]|Familial cancer of breast [RCV000765274]|Hereditary cancer-predisposing syndrome [RCV000116067]|not provided [RCV000212791] |
Chr16:23635198 [GRCh38]
Chr16:23646519 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000205286]|Hereditary cancer-predisposing syndrome [RCV000563884]|Malignant tumor of breast [RCV001357507]|not provided [RCV000116069]|not specified [RCV001192765] |
Chr16:23634982 [GRCh38]
Chr16:23646303 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1697G>A (p.Arg566His) |
single nucleotide variant |
Familial cancer of breast [RCV000229982]|Hereditary cancer-predisposing syndrome [RCV000564017]|PALB2-related disorder [RCV004542828]|not provided [RCV000116071]|not specified [RCV001030254] |
Chr16:23630457 [GRCh38]
Chr16:23641778 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000474485]|Familial cancer of breast [RCV002483190]|Hereditary cancer-predisposing syndrome [RCV000567502]|not provided [RCV000116074] |
Chr16:23630421 [GRCh38]
Chr16:23641742 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000168167]|Hereditary cancer-predisposing syndrome [RCV000116075]|Pancreatic cancer, susceptibility to, 3 [RCV001030125]|not provided [RCV000585283]|not specified [RCV000121745] |
Chr16:23637867 [GRCh38]
Chr16:23649188 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000410272]|Hereditary cancer-predisposing syndrome [RCV000116076]|not provided [RCV000212804]|not specified [RCV002509225] |
Chr16:23630167 [GRCh38]
Chr16:23641488 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2078A>G (p.His693Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000467228]|Hereditary cancer-predisposing syndrome [RCV000576106]|not provided [RCV000116077] |
Chr16:23630076 [GRCh38]
Chr16:23641397 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2117C>G (p.Thr706Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004019621]|not provided [RCV000116078] |
Chr16:23630037 [GRCh38]
Chr16:23641358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2120del (p.Pro707fs) |
deletion |
Familial cancer of breast [RCV000409069]|Hereditary cancer-predisposing syndrome [RCV000116079]|Pancreatic cancer, susceptibility to, 3 [RCV001258078]|not provided [RCV000254677] |
Chr16:23630034 [GRCh38]
Chr16:23641355 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635763]|Hereditary cancer-predisposing syndrome [RCV000234885]|not provided [RCV000116082]|not specified [RCV002265611] |
Chr16:23629924 [GRCh38]
Chr16:23641245 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2379C>T (p.Gly793=) |
single nucleotide variant |
Familial cancer of breast [RCV000200135]|Fanconi anemia complementation group N [RCV000292657]|Hereditary cancer-predisposing syndrome [RCV000116084]|Malignant tumor of breast [RCV001354155]|PALB2-related disorder [RCV004542829]|not provided [RCV000212811]|not specified [RCV000780574] |
Chr16:23629775 [GRCh38]
Chr16:23641096 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) |
deletion |
Familial cancer of breast [RCV003474718]|Hereditary cancer-predisposing syndrome [RCV000116085]|not provided [RCV000497296] |
Chr16:23629758..23629764 [GRCh38]
Chr16:23641079..23641085 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2395A>C (p.Thr799Pro) |
single nucleotide variant |
not provided [RCV000116086] |
Chr16:23629759 [GRCh38]
Chr16:23641080 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798359]|Familial cancer of breast [RCV000989556]|Fanconi anemia complementation group N [RCV000318539]|Hereditary breast ovarian cancer syndrome [RCV001030647]|Hereditary cancer-predisposing syndrome [RCV000116087]|Malignant tumor of breast [RCV001356207]|PALB2-related disorder [RCV004529947]|not provided [RCV000656936]|not specified [RCV000121758] |
Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001317021]|not provided [RCV000116091] |
Chr16:23624036 [GRCh38]
Chr16:23635357 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635686]|Hereditary cancer-predisposing syndrome [RCV001804846]|not provided [RCV000656938]|not specified [RCV000121761] |
Chr16:23623119 [GRCh38]
Chr16:23634440 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004760383]|Familial cancer of breast [RCV000204848]|Familial cancer of breast [RCV000764045]|Hereditary cancer-predisposing syndrome [RCV000116094]|Triple-negative breast cancer [RCV000202384]|not provided [RCV000212819]|not specified [RCV002267857] |
Chr16:23623068 [GRCh38]
Chr16:23634389 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|association|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000706273]|Hereditary cancer-predisposing syndrome [RCV000561324]|not provided [RCV000589774] |
Chr16:23614080 [GRCh38]
Chr16:23625401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3132A>C (p.Gln1044His) |
single nucleotide variant |
Familial cancer of breast [RCV000635880]|Hereditary cancer-predisposing syndrome [RCV000454267]|not provided [RCV000116098] |
Chr16:23614073 [GRCh38]
Chr16:23625394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3175G>A (p.Val1059Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000812526]|Hereditary cancer-predisposing syndrome [RCV001018977]|not provided [RCV000116100] |
Chr16:23614030 [GRCh38]
Chr16:23625351 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3229C>G (p.Pro1077Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000821981]|Hereditary cancer-predisposing syndrome [RCV001019319]|not provided [RCV000116101] |
Chr16:23607985 [GRCh38]
Chr16:23619306 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg) |
single nucleotide variant |
not provided [RCV000116105] |
Chr16:23603583 [GRCh38]
Chr16:23614904 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) |
duplication |
Familial cancer of breast [RCV000200796]|Hereditary breast ovarian cancer syndrome [RCV003155917]|Hereditary cancer-predisposing syndrome [RCV000116106]|PALB2-related disorder [RCV004528808]|not provided [RCV000133488] |
Chr16:23603563..23603564 [GRCh38]
Chr16:23614884..23614885 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000211074]|Hereditary cancer-predisposing syndrome [RCV000116107]|not provided [RCV000212774]|not specified [RCV002222397] |
Chr16:23636193 [GRCh38]
Chr16:23647514 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003493446]|Familial cancer of breast [RCV000200012]|Familial cancer of breast [RCV000763376]|Hereditary breast ovarian cancer syndrome [RCV000587765]|Hereditary cancer-predisposing syndrome [RCV000116108]|PALB2-related disorder [RCV004528809]|not provided [RCV000212831] |
Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000559113]|Familial cancer of breast [RCV002498499]|Hereditary cancer-predisposing syndrome [RCV001024216]|not provided [RCV000116109] |
Chr16:23635995 [GRCh38]
Chr16:23647316 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.571C>G (p.Pro191Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000211086]|Hereditary cancer-predisposing syndrome [RCV000774642]|not provided [RCV000116110] |
Chr16:23635975 [GRCh38]
Chr16:23647296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000410687]|Hereditary cancer-predisposing syndrome [RCV000567956]|not provided [RCV000766543]|not specified [RCV001174832] |
Chr16:23635690 [GRCh38]
Chr16:23647011 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.906CCT[1] (p.Leu304del) |
microsatellite |
Familial cancer of breast [RCV000535050]|Hereditary cancer-predisposing syndrome [RCV000573937]|not provided [RCV000116114] |
Chr16:23635635..23635637 [GRCh38]
Chr16:23646956..23646958 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149811]|Familial cancer of breast [RCV000200242]|Hereditary cancer-predisposing syndrome [RCV000116115]|Malignant tumor of breast [RCV001354315]|PALB2-related disorder [RCV004528810]|not provided [RCV000212782]|not specified [RCV001290583] |
Chr16:23635618 [GRCh38]
Chr16:23646939 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000472765]|Familial cancer of breast [RCV002483191]|Hereditary cancer-predisposing syndrome [RCV000116116]|not provided [RCV000212783] |
Chr16:23635597 [GRCh38]
Chr16:23646918 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1188C>T (p.Cys396=) |
single nucleotide variant |
Familial cancer of breast [RCV000123329]|Hereditary cancer-predisposing syndrome [RCV000163124]|not provided [RCV001704046]|not specified [RCV000420289] |
Chr16:23635358 [GRCh38]
Chr16:23646679 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1230T>C (p.Val410=) |
single nucleotide variant |
Familial cancer of breast [RCV000123330]|Hereditary cancer-predisposing syndrome [RCV002362752] |
Chr16:23635316 [GRCh38]
Chr16:23646637 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.12T>C (p.Pro4=) |
single nucleotide variant |
Familial cancer of breast [RCV000123332]|Fanconi anemia complementation group N [RCV001121824]|Hereditary cancer-predisposing syndrome [RCV000160826]|not provided [RCV000858740]|not specified [RCV000212765] |
Chr16:23641146 [GRCh38]
Chr16:23652467 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.1637T>C (p.Val546Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000123333]|Familial cancer of breast [RCV002492444]|Hereditary cancer-predisposing syndrome [RCV000215046]|PALB2-related disorder [RCV004739425]|not provided [RCV000589758] |
Chr16:23634909 [GRCh38]
Chr16:23646230 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2087C>T (p.Thr696Met) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492552]|Familial cancer of breast [RCV000123336]|Hereditary cancer-predisposing syndrome [RCV000132543]|PALB2-related disorder [RCV004530058]|not provided [RCV001030277] |
Chr16:23630067 [GRCh38]
Chr16:23641388 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) |
deletion |
Breast neoplasm [RCV000677892]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315410]|Familial cancer of breast [RCV000123337]|Familial cancer of breast [RCV002492445]|Fanconi anemia complementation group N [RCV001336119]|Gastric cancer [RCV003162563]|Hereditary breast ovarian cancer syndrome [RCV000589589]|Hereditary cancer-predisposing syndrome [RCV000129400]|Malignant tumor of pancreas [RCV000677893]|not provided [RCV000133478] |
Chr16:23629986..23629987 [GRCh38]
Chr16:23641307..23641308 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798407]|Familial cancer of breast [RCV000123338]|Hereditary cancer-predisposing syndrome [RCV000130052]|Malignant tumor of breast [RCV001357632]|PALB2-related disorder [RCV004528842]|not provided [RCV000587948]|not specified [RCV000212808] |
Chr16:23629865 [GRCh38]
Chr16:23641186 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2571G>A (p.Leu857=) |
single nucleotide variant |
Familial cancer of breast [RCV000123339]|Fanconi anemia complementation group N [RCV001535717]|Hereditary cancer-predisposing syndrome [RCV000560973]|not provided [RCV000486288] |
Chr16:23629219 [GRCh38]
Chr16:23640540 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2607C>T (p.Ser869=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149845]|Familial cancer of breast [RCV000123340]|Hereditary cancer-predisposing syndrome [RCV000127296]|PALB2-related disorder [RCV004528843]|not provided [RCV000587582]|not specified [RCV000212814] |
Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000123341]|Hereditary cancer-predisposing syndrome [RCV000220315]|PALB2-related disorder [RCV004739426]|not provided [RCV001546031]|not specified [RCV000507163] |
Chr16:23624090 [GRCh38]
Chr16:23635411 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) |
single nucleotide variant |
Familial cancer of breast [RCV000123342]|Hereditary cancer-predisposing syndrome [RCV000164965]|PALB2-related disorder [RCV004530059]|not provided [RCV003422008]|not specified [RCV000430555] |
Chr16:23603654 [GRCh38]
Chr16:23614975 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000123343]|Hereditary cancer-predisposing syndrome [RCV000131587] |
Chr16:23635824 [GRCh38]
Chr16:23647145 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.769G>A (p.Gly257Ser) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003492553]|Familial cancer of breast [RCV000123344]|Hereditary cancer-predisposing syndrome [RCV000165945]|PALB2-related disorder [RCV004530060]|not provided [RCV004589611]|not specified [RCV003226206] |
Chr16:23635777 [GRCh38]
Chr16:23647098 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1863T>C (p.Pro621=) |
single nucleotide variant |
Familial cancer of breast [RCV000123334]|Hereditary cancer-predisposing syndrome [RCV000563042]|not specified [RCV000613279] |
Chr16:23630291 [GRCh38]
Chr16:23641612 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2006del (p.Glu669fs) |
deletion |
Familial cancer of breast [RCV001068436]|Hereditary cancer-predisposing syndrome [RCV000160806]|not provided [RCV000497295]|not specified [RCV000121754] |
Chr16:23630148 [GRCh38]
Chr16:23641469 [GRCh37]
Chr16:16p12.2 |
pathogenic|not provided |
| NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000410682]|Hereditary cancer-predisposing syndrome [RCV000129773]|not provided [RCV000657026]|not specified [RCV000121755] |
Chr16:23629698 [GRCh38]
Chr16:23641019 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000195647]|Hereditary cancer-predisposing syndrome [RCV000561765]|not provided [RCV000588075]|not specified [RCV000121757] |
Chr16:23629896 [GRCh38]
Chr16:23641217 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del) |
deletion |
Familial cancer of breast [RCV000123335]|Familial cancer of breast [RCV002505071]|Hereditary cancer-predisposing syndrome [RCV000573890]|not provided [RCV001284029]|not specified [RCV000121753] |
Chr16:23630264..23630272 [GRCh38]
Chr16:23641585..23641593 [GRCh37]
Chr16:16p12.2 |
uncertain significance|not provided |
| NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000119209]|Hereditary cancer-predisposing syndrome [RCV000130853]|Pancreatic cancer, susceptibility to, 3 [RCV001356550]|not provided [RCV000858055] |
Chr16:23635492 [GRCh38]
Chr16:23646813 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2163A>C (p.Thr721=) |
single nucleotide variant |
Familial cancer of breast [RCV000635963]|Hereditary cancer-predisposing syndrome [RCV000221801]|not provided [RCV001579556]|not specified [RCV000127293] |
Chr16:23629991 [GRCh38]
Chr16:23641312 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2742C>T (p.Phe914=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315853]|Familial cancer of breast [RCV000196595]|Fanconi anemia complementation group N [RCV000357789]|Hereditary cancer-predisposing syndrome [RCV000127297]|not provided [RCV000858526]|not specified [RCV000212816] |
Chr16:23626242 [GRCh38]
Chr16:23637563 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.2834+18A>T |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315854]|Familial cancer of breast [RCV000410164]|Hereditary breast ovarian cancer syndrome [RCV002225410]|Hereditary cancer-predisposing syndrome [RCV000580996]|not provided [RCV000679767]|not specified [RCV000127299] |
Chr16:23623991 [GRCh38]
Chr16:23635312 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1281T>C (p.Ala427=) |
single nucleotide variant |
Familial cancer of breast [RCV000206142]|Familial cancer of breast [RCV002498627]|Hereditary breast ovarian cancer syndrome [RCV002225411]|Hereditary cancer-predisposing syndrome [RCV000127308]|not provided [RCV001800420]|not specified [RCV000212787] |
Chr16:23635265 [GRCh38]
Chr16:23646586 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.1904T>C (p.Val635Ala) |
single nucleotide variant |
not provided [RCV001310325] |
Chr16:23630250 [GRCh38]
Chr16:23641571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001889281]|Hereditary cancer-predisposing syndrome [RCV002386668] |
Chr16:23635163 [GRCh38]
Chr16:23646484 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2586+6A>G |
single nucleotide variant |
Familial cancer of breast [RCV001303616] |
Chr16:23629198 [GRCh38]
Chr16:23640519 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3512del (p.Leu1171fs) |
deletion |
Familial cancer of breast [RCV003219179] |
Chr16:23603508 [GRCh38]
Chr16:23614829 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2563del (p.Leu855fs) |
deletion |
Familial cancer of breast [RCV003449834]|not provided [RCV001284197] |
Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2748+1G>C |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315425]|Familial cancer of breast [RCV000409294]|Hereditary cancer-predisposing syndrome [RCV001176291]|not provided [RCV003477909] |
Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3202-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000409659]|Familial cancer of breast [RCV002481267]|Hereditary cancer-predisposing syndrome [RCV001019201]|not provided [RCV003493565] |
Chr16:23608013 [GRCh38]
Chr16:23619334 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030200]|Hereditary cancer-predisposing syndrome [RCV001525190]|not provided [RCV000133472] |
Chr16:23635438 [GRCh38]
Chr16:23646759 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1431del (p.Ser478fs) |
deletion |
Familial cancer of breast [RCV001030225]|not provided [RCV000133473] |
Chr16:23635115 [GRCh38]
Chr16:23646436 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.156del (p.Glu53fs) |
deletion |
Familial cancer of breast [RCV000461816]|Hereditary cancer-predisposing syndrome [RCV000566566]|not provided [RCV000133474] |
Chr16:23637905 [GRCh38]
Chr16:23649226 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000701075]|Hereditary cancer-predisposing syndrome [RCV000454158]|not provided [RCV000133475] |
Chr16:23634975 [GRCh38]
Chr16:23646296 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) |
deletion |
Familial cancer of breast [RCV001030237]|Hereditary cancer-predisposing syndrome [RCV004658974]|not provided [RCV000133476] |
Chr16:23634946..23634955 [GRCh38]
Chr16:23646267..23646276 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030275]|Hereditary breast ovarian cancer syndrome [RCV003155925]|Hereditary cancer-predisposing syndrome [RCV000562385]|not provided [RCV000133477] |
Chr16:23630080 [GRCh38]
Chr16:23641401 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) |
microsatellite |
Familial cancer of breast [RCV001030343]|not provided [RCV000133480] |
Chr16:23624055..23624056 [GRCh38]
Chr16:23635376..23635377 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2834+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV000411304]|Familial cancer of breast [RCV000763377]|Hereditary cancer-predisposing syndrome [RCV000567638]|not provided [RCV000133481] |
Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2888del (p.Ser963fs) |
deletion |
Familial cancer of breast [RCV000821314]|Hereditary cancer-predisposing syndrome [RCV002433626]|not provided [RCV000133482] |
Chr16:23623077 [GRCh38]
Chr16:23634398 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.2919_2920delAA (p.Lys974Glufs) |
deletion |
not provided [RCV000133483] |
Chr16:23623045..23623046 [GRCh38]
Chr16:23634366..23634367 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.3022delC (p.Pro1009Leufs) |
deletion |
not provided [RCV000133484] |
Chr16:23621453 [GRCh38]
Chr16:23632774 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3201+1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000230297]|Hereditary cancer-predisposing syndrome [RCV000164723]|PALB2-related disorder [RCV004528869]|not provided [RCV000133485] |
Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.3(PALB2):c.3423_3426delCTTA (p.Leu1142Phefs) |
deletion |
not provided [RCV000133486] |
Chr16:23603594..23603597 [GRCh38]
Chr16:23614915..23614918 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) |
duplication |
Familial cancer of breast [RCV000195604]|Hereditary cancer-predisposing syndrome [RCV000454197]|not provided [RCV000133487] |
Chr16:23603593..23603594 [GRCh38]
Chr16:23614914..23614915 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) |
deletion |
Familial cancer of breast [RCV001030420]|not provided [RCV000133489] |
Chr16:23603522..23603523 [GRCh38]
Chr16:23614843..23614844 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.3504_3505delCT (p.His1170Phefs) |
deletion |
not provided [RCV000133490] |
Chr16:23603515..23603516 [GRCh38]
Chr16:23614836..23614837 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3143del (p.Lys1048fs) |
deletion |
Breast neoplasm [RCV000504602]|Familial cancer of breast [RCV003449391] |
Chr16:23614062 [GRCh38]
Chr16:23625383 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Breast neoplasm [RCV000504603]|Familial cancer of breast [RCV001385716] |
Chr16:23635903 [GRCh38]
Chr16:23647224 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) |
microsatellite |
Breast neoplasm [RCV000504613]|Familial cancer of breast [RCV000701403]|Gastric cancer [RCV003159604]|Hereditary cancer-predisposing syndrome [RCV001015644]|not provided [RCV001008183] |
Chr16:23629673..23629674 [GRCh38]
Chr16:23640994..23640995 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000456418]|Hereditary breast ovarian cancer syndrome [RCV004586565]|Hereditary cancer-predisposing syndrome [RCV000576041]|not provided [RCV000133491] |
Chr16:23636095 [GRCh38]
Chr16:23647416 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.48G>A (p.Lys16=) |
single nucleotide variant |
Familial cancer of breast [RCV001030105]|Hereditary cancer-predisposing syndrome [RCV000566830]|not provided [RCV000133492] |
Chr16:23641110 [GRCh38]
Chr16:23652431 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) |
deletion |
Familial cancer of breast [RCV000822164]|Hereditary cancer-predisposing syndrome [RCV002371980]|not provided [RCV000133493] |
Chr16:23635660 [GRCh38]
Chr16:23646981 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) |
deletion |
Familial cancer of breast [RCV001030190]|not provided [RCV000133494] |
Chr16:23635584..23635590 [GRCh38]
Chr16:23646905..23646911 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001871761]|Familial cancer of breast [RCV002486214] |
Chr16:23629938 [GRCh38]
Chr16:23641259 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.3201+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV001206798]|Hereditary cancer-predisposing syndrome [RCV000130058] |
Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) |
deletion |
Familial cancer of breast [RCV000205410]|Fanconi anemia complementation group N [RCV001781469]|Hereditary cancer-predisposing syndrome [RCV000130093]|not provided [RCV000133471] |
Chr16:23635505..23635509 [GRCh38]
Chr16:23646826..23646830 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) |
single nucleotide variant |
Endometrial carcinoma [RCV001358211]|Familial cancer of breast [RCV000226926]|Fanconi anemia complementation group N [RCV000302799]|Hereditary breast ovarian cancer syndrome [RCV001030649]|Hereditary cancer-predisposing syndrome [RCV000130094]|not provided [RCV000842453]|not specified [RCV001030271] |
Chr16:23630199 [GRCh38]
Chr16:23641520 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000409652]|Fanconi anemia complementation group N [RCV001116859]|Hereditary cancer-predisposing syndrome [RCV000130104]|not provided [RCV000212792] |
Chr16:23635182 [GRCh38]
Chr16:23646503 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000689784]|Hereditary cancer-predisposing syndrome [RCV000130130]|not provided [RCV000236113]|not specified [RCV000781686] |
Chr16:23621431 [GRCh38]
Chr16:23632752 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) |
deletion |
Breast cancer, susceptibility to [RCV000500842]|Familial cancer of breast [RCV000476828]|Familial cancer of breast [RCV002492500]|Hereditary cancer-predisposing syndrome [RCV000130137]|not provided [RCV000481028] |
Chr16:23623001 [GRCh38]
Chr16:23634322 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) |
single nucleotide variant |
Chordoma [RCV002266924]|Familial cancer of breast [RCV000232741]|Hereditary cancer-predisposing syndrome [RCV000130172]|PALB2-related disorder [RCV004739441]|not provided [RCV000589687]|not specified [RCV001251061] |
Chr16:23635504 [GRCh38]
Chr16:23646825 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1160C>T (p.Ser387Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000540249]|Hereditary cancer-predisposing syndrome [RCV000130177] |
Chr16:23635386 [GRCh38]
Chr16:23646707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2104A>C (p.Ile702Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001857445]|Hereditary cancer-predisposing syndrome [RCV000130218] |
Chr16:23630050 [GRCh38]
Chr16:23641371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs) |
microsatellite |
Familial cancer of breast [RCV000797316]|Hereditary cancer-predisposing syndrome [RCV000130222] |
Chr16:23607946..23607947 [GRCh38]
Chr16:23619267..23619268 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.-2C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130240]|not provided [RCV001357620] |
Chr16:23641159 [GRCh38]
Chr16:23652480 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798444]|Familial cancer of breast [RCV000411835]|Familial cancer of breast [RCV000764051]|Hereditary cancer-predisposing syndrome [RCV000130326]|not provided [RCV000481375] |
Chr16:23630398 [GRCh38]
Chr16:23641719 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001849933]|Hereditary cancer-predisposing syndrome [RCV000130351]|not provided [RCV000235682] |
Chr16:23603478 [GRCh38]
Chr16:23614799 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.563C>G (p.Ala188Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000168329]|Hereditary cancer-predisposing syndrome [RCV000130368]|not specified [RCV001818311] |
Chr16:23635983 [GRCh38]
Chr16:23647304 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.72G>C (p.Leu24Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130387] |
Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) |
single nucleotide variant |
Breast cancer, susceptibility to [RCV002251434]|Familial cancer of breast [RCV000476449]|Hereditary cancer-predisposing syndrome [RCV000130421]|Malignant tumor of breast [RCV001357166]|PALB2-related disorder [RCV003387508]|not provided [RCV000412725] |
Chr16:23636122 [GRCh38]
Chr16:23647443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389456]|Familial cancer of breast [RCV000204730]|Familial cancer of breast [RCV002505109]|Fanconi anemia complementation group N [RCV003444205]|Hereditary cancer-predisposing syndrome [RCV000130431]|Malignant tumor of breast [RCV001355887]|PALB2-related disorder [RCV004544294]|not provided [RCV000482622]|not specified [RCV001194140] |
Chr16:23614059 [GRCh38]
Chr16:23625380 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003453075]|Hereditary cancer-predisposing syndrome [RCV000130518] |
Chr16:23603544 [GRCh38]
Chr16:23614865 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2233A>G (p.Lys745Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000232204]|Hereditary cancer-predisposing syndrome [RCV000130548]|not provided [RCV002247508] |
Chr16:23629921 [GRCh38]
Chr16:23641242 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) |
deletion |
Familial cancer of breast [RCV000464043]|Familial cancer of breast [RCV002505111]|Hereditary cancer-predisposing syndrome [RCV000130577]|PALB2-related disorder [RCV004739445]|not provided [RCV000235246] |
Chr16:23635947 [GRCh38]
Chr16:23647268 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000470365]|Hereditary cancer-predisposing syndrome [RCV000130589] |
Chr16:23629269 [GRCh38]
Chr16:23640590 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000211075]|Hereditary cancer-predisposing syndrome [RCV000130657]|PALB2-related disorder [RCV004724828]|not provided [RCV000588260]|not specified [RCV002281957] |
Chr16:23603571 [GRCh38]
Chr16:23614892 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) |
single nucleotide variant |
Familial cancer of breast [RCV000198999]|Familial cancer of breast [RCV002483264]|Hereditary cancer-predisposing syndrome [RCV000130719]|not provided [RCV000235282]|not specified [RCV002222405] |
Chr16:23630406 [GRCh38]
Chr16:23641727 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149901]|Familial cancer of breast [RCV000226292]|Familial cancer of breast [RCV000764042]|Hereditary cancer-predisposing syndrome [RCV000130728]|Ovarian cancer [RCV003153422]|not provided [RCV000483048]|not specified [RCV001194142] |
Chr16:23607907 [GRCh38]
Chr16:23619228 [GRCh37]
Chr16:16p12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.557A>T (p.Asn186Ile) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315411]|Familial cancer of breast [RCV000197454]|Familial cancer of breast [RCV002478396]|Hereditary cancer-predisposing syndrome [RCV000130756]|not provided [RCV000588642]|not specified [RCV004595933] |
Chr16:23635989 [GRCh38]
Chr16:23647310 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000203792]|Hereditary breast ovarian cancer syndrome [RCV002225436]|Hereditary cancer-predisposing syndrome [RCV000130835]|PALB2-related disorder [RCV004739448]|not provided [RCV000590502]|not specified [RCV000855603] |
Chr16:23607957 [GRCh38]
Chr16:23619278 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149904]|Familial cancer of breast [RCV000205533]|Familial ovarian cancer [RCV003447500]|Hereditary cancer-predisposing syndrome [RCV000130855]|Inherited breast cancer and ovarian cancer [RCV004584197]|not provided [RCV000586638]|not specified [RCV002267878] |
Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000465244]|Hereditary cancer-predisposing syndrome [RCV000130860]|not provided [RCV003159104] |
Chr16:23635419 [GRCh38]
Chr16:23646740 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000206313]|Hereditary cancer-predisposing syndrome [RCV000130889]|not provided [RCV000522868] |
Chr16:23623018 [GRCh38]
Chr16:23634339 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.734C>T (p.Ala245Val) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315412]|Familial cancer of breast [RCV000200032]|Hereditary cancer-predisposing syndrome [RCV000130900]|not provided [RCV000483902]|not specified [RCV001030168] |
Chr16:23635812 [GRCh38]
Chr16:23647133 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004551258]|Familial cancer of breast [RCV000412141]|Hereditary cancer-predisposing syndrome [RCV000130901]|not provided [RCV000487310] |
Chr16:23603528 [GRCh38]
Chr16:23614849 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.850dup (p.Thr284fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000130929] |
Chr16:23635695..23635696 [GRCh38]
Chr16:23647016..23647017 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.584T>G (p.Ile195Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635801]|Hereditary cancer-predisposing syndrome [RCV000130977]|not provided [RCV000212777] |
Chr16:23635962 [GRCh38]
Chr16:23647283 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3286_3289delAACCins8 |
indel |
Hereditary cancer-predisposing syndrome [RCV000131265] |
Chr16:23607925..23607928 [GRCh38]
Chr16:23619246..23619249 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.833_834delTAinsAT (p.Leu278His) |
indel |
Neoplastic Syndromes, Hereditary [RCV000131311] |
Chr16:23635712..23635713 [GRCh38]
Chr16:23647033..23647034 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1481C>T (p.Thr494Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001045768]|Hereditary cancer-predisposing syndrome [RCV000131338] |
Chr16:23635065 [GRCh38]
Chr16:23646386 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001084972]|Hereditary cancer-predisposing syndrome [RCV000131362]|not provided [RCV000589092]|not specified [RCV000417393] |
Chr16:23630127 [GRCh38]
Chr16:23641448 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000199659]|Familial ovarian cancer [RCV001357530]|Hereditary cancer-predisposing syndrome [RCV000131395]|not provided [RCV001281710]|not specified [RCV000507756] |
Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492624]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004597749]|Familial cancer of breast [RCV000466579]|Fanconi anemia complementation group N [RCV001781472]|Gastric cancer [RCV003162588]|Hereditary breast ovarian cancer syndrome [RCV000824730]|Hereditary cancer-predisposing syndrome [RCV000131502]|Malignant tumor of breast [RCV001264577]|PALB2-related disorder [RCV004739453]|not provided [RCV000236519] |
Chr16:23629897 [GRCh38]
Chr16:23641218 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.226del (p.Ile76fs) |
deletion |
Familial cancer of breast [RCV000411345]|Familial cancer of breast [RCV002498645]|Hereditary cancer-predisposing syndrome [RCV000131508]|Pancreatic cancer, susceptibility to, 3 [RCV001258080]|not provided [RCV000254673] |
Chr16:23636320 [GRCh38]
Chr16:23647641 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000529684]|Hereditary cancer-predisposing syndrome [RCV000131515]|not provided [RCV000657737] |
Chr16:23635288 [GRCh38]
Chr16:23646609 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.18G>T (p.Gly6=) |
single nucleotide variant |
Familial cancer of breast [RCV000557471]|Hereditary breast ovarian cancer syndrome [RCV002265620]|Hereditary cancer-predisposing syndrome [RCV000131549]|not provided [RCV000432017] |
Chr16:23641140 [GRCh38]
Chr16:23652461 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315413]|Familial cancer of breast [RCV000204289]|Hereditary cancer-predisposing syndrome [RCV000131597]|not provided [RCV000235261]|not specified [RCV001818326] |
Chr16:23607894 [GRCh38]
Chr16:23619215 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000205368]|Hereditary cancer-predisposing syndrome [RCV000131600]|not provided [RCV004696852]|not specified [RCV000212763] |
Chr16:23641148 [GRCh38]
Chr16:23652469 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.997A>G (p.Thr333Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000531244]|Hereditary cancer-predisposing syndrome [RCV000131627] |
Chr16:23635549 [GRCh38]
Chr16:23646870 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000410212]|Familial cancer of breast [RCV002478400]|Fanconi anemia complementation group N [RCV001294230]|Hereditary cancer-predisposing syndrome [RCV000131652]|not provided [RCV000657014]|not specified [RCV000235868] |
Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) |
indel |
Familial cancer of breast [RCV000635615]|Hereditary cancer-predisposing syndrome [RCV000131730]|Malignant tumor of breast [RCV001355806]|not provided [RCV000485597] |
Chr16:23635884..23635885 [GRCh38]
Chr16:23647205..23647206 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3350+5G>A |
single nucleotide variant |
Familial cancer of breast [RCV000526519]|Hereditary breast ovarian cancer syndrome [RCV001824643]|Hereditary cancer-predisposing syndrome [RCV000131789]|PALB2-related disorder [RCV004739459] |
Chr16:23607859 [GRCh38]
Chr16:23619180 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2931dup (p.Val978fs) |
duplication |
Familial cancer of breast [RCV000195468]|Hereditary cancer-predisposing syndrome [RCV000131794]|not provided [RCV000235842] |
Chr16:23623033..23623034 [GRCh38]
Chr16:23634354..23634355 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000230627]|Familial cancer of breast [RCV002478401]|Hereditary cancer-predisposing syndrome [RCV000131807]|not provided [RCV000483722]|not specified [RCV001800443] |
Chr16:23629233 [GRCh38]
Chr16:23640554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132065] |
Chr16:23635986 [GRCh38]
Chr16:23647307 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1114A>G (p.Ser372Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001232087]|Hereditary cancer-predisposing syndrome [RCV000132072] |
Chr16:23635432 [GRCh38]
Chr16:23646753 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000211087]|Hereditary cancer-predisposing syndrome [RCV000132073]|not provided [RCV000588870] |
Chr16:23635806 [GRCh38]
Chr16:23647127 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2052del (p.Arg686fs) |
deletion |
Familial cancer of breast [RCV000554009]|Familial cancer of breast [RCV001535939]|Hereditary cancer-predisposing syndrome [RCV000132106]|Malignant tumor of breast [RCV001357590]|PALB2-related disorder [RCV004739460]|not provided [RCV000254676] |
Chr16:23630102 [GRCh38]
Chr16:23641423 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000227189]|Hereditary cancer-predisposing syndrome [RCV000132122]|not provided [RCV000656937]|not specified [RCV000212815] |
Chr16:23626376 [GRCh38]
Chr16:23637697 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2507_2509del (p.Val836del) |
deletion |
Familial cancer of breast [RCV000465007]|Fanconi anemia [RCV000354505]|Hereditary cancer-predisposing syndrome [RCV000132137]|not provided [RCV000656935] |
Chr16:23629645..23629647 [GRCh38]
Chr16:23640966..23640968 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1552T>C (p.Ser518Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132235]|not provided [RCV000236344] |
Chr16:23634994 [GRCh38]
Chr16:23646315 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2890G>A (p.Gly964Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001307165]|Hereditary cancer-predisposing syndrome [RCV000128945]|not provided [RCV000236207] |
Chr16:23623075 [GRCh38]
Chr16:23634396 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000206496]|Hereditary cancer-predisposing syndrome [RCV000129027]|not provided [RCV000588943] |
Chr16:23607924 [GRCh38]
Chr16:23619245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1190C>T (p.Thr397Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003607242]|Hereditary cancer-predisposing syndrome [RCV000129058] |
Chr16:23635356 [GRCh38]
Chr16:23646677 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000476315]|Hereditary cancer-predisposing syndrome [RCV000129134]|not provided [RCV001775617] |
Chr16:23630457 [GRCh38]
Chr16:23641778 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000167989]|Hereditary cancer-predisposing syndrome [RCV000132292]|See cases [RCV002251997]|not provided [RCV001570317] |
Chr16:23629753 [GRCh38]
Chr16:23641074 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2716T>C (p.Trp906Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001243537]|Hereditary cancer-predisposing syndrome [RCV000132387]|not provided [RCV001775629] |
Chr16:23626268 [GRCh38]
Chr16:23637589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.292A>G (p.Ile98Val) |
single nucleotide variant |
Familial cancer of breast [RCV000471839]|Hereditary breast ovarian cancer syndrome [RCV002225448]|Hereditary cancer-predisposing syndrome [RCV000132416]|not provided [RCV001753518] |
Chr16:23636254 [GRCh38]
Chr16:23647575 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000815954]|Hereditary cancer-predisposing syndrome [RCV000132434]|not provided [RCV000587488] |
Chr16:23635185 [GRCh38]
Chr16:23646506 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) |
microsatellite |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004760387]|Familial cancer of breast [RCV000211073]|Fanconi anemia complementation group N [RCV001781465]|Hereditary breast ovarian cancer syndrome [RCV002225427]|Hereditary cancer-predisposing syndrome [RCV000129272]|PALB2-related disorder [RCV004545747]|not provided [RCV000133490] |
Chr16:23603512..23603513 [GRCh38]
Chr16:23614833..23614834 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2705A>T (p.Asp902Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129281] |
Chr16:23626279 [GRCh38]
Chr16:23637600 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1328A>G (p.Lys443Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001215760]|Hereditary cancer-predisposing syndrome [RCV000129315] |
Chr16:23635218 [GRCh38]
Chr16:23646539 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000535908]|Hereditary cancer-predisposing syndrome [RCV000132527]|Malignant tumor of breast [RCV000590893] |
Chr16:23623113 [GRCh38]
Chr16:23634434 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2205del (p.Ala736fs) |
deletion |
Familial cancer of breast [RCV001849949]|Hereditary cancer-predisposing syndrome [RCV000132530] |
Chr16:23629949 [GRCh38]
Chr16:23641270 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.995T>A (p.Leu332His) |
single nucleotide variant |
Familial cancer of breast [RCV000199494]|Hereditary cancer-predisposing syndrome [RCV000132538]|Malignant tumor of breast [RCV001354291]|not provided [RCV000589127] |
Chr16:23635551 [GRCh38]
Chr16:23646872 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000799015]|Hereditary cancer-predisposing syndrome [RCV000129390]|not provided [RCV000485246] |
Chr16:23626272 [GRCh38]
Chr16:23637593 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003149891]|Familial cancer of breast [RCV000204760]|Hereditary cancer-predisposing syndrome [RCV000129403]|Malignant tumor of breast [RCV001355012]|Pancreatic cancer, susceptibility to, 3 [RCV001030305]|not provided [RCV000235688]|not specified [RCV001192769] |
Chr16:23629737 [GRCh38]
Chr16:23641058 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000410126]|Hereditary cancer-predisposing syndrome [RCV000129467]|not provided [RCV000212775] |
Chr16:23636108 [GRCh38]
Chr16:23647429 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr) |
single nucleotide variant |
Diffuse midline glioma, H3 K27-altered [RCV003315231]|Familial cancer of breast [RCV000471567]|Hereditary cancer-predisposing syndrome [RCV000129474]|Malignant tumor of breast [RCV001355149]|PALB2-related disorder [RCV004545873]|not provided [RCV000481045] |
Chr16:23626241 [GRCh38]
Chr16:23637562 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.1546del (p.Arg516fs) |
deletion |
Familial cancer of breast [RCV000196008]|Hereditary cancer-predisposing syndrome [RCV000129579]|not provided [RCV000506528] |
Chr16:23635000 [GRCh38]
Chr16:23646321 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2514+3dup |
duplication |
Familial cancer of breast [RCV000799318]|Hereditary cancer-predisposing syndrome [RCV000129677]|not provided [RCV001849925]|not specified [RCV001800428] |
Chr16:23629636..23629637 [GRCh38]
Chr16:23640957..23640958 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.101G>A (p.Arg34His) |
single nucleotide variant |
Familial cancer of breast [RCV000530292]|Familial cancer of breast [RCV002478387]|Fanconi anemia complementation group N [RCV001119844]|Hereditary cancer-predisposing syndrome [RCV000129692]|not provided [RCV001729405]|not specified [RCV000587426] |
Chr16:23638077 [GRCh38]
Chr16:23649398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000226949]|Hereditary breast ovarian cancer syndrome [RCV004760389]|Hereditary cancer-predisposing syndrome [RCV000129794]|not provided [RCV000212829]|not specified [RCV001818304] |
Chr16:23603512 [GRCh38]
Chr16:23614833 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) |
indel |
Familial cancer of breast [RCV003474754]|Hereditary cancer-predisposing syndrome [RCV000129810] |
Chr16:23641132 [GRCh38]
Chr16:23652453 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.654del (p.Asp219fs) |
deletion |
Breast and/or ovarian cancer [RCV001270996]|Familial cancer of breast [RCV000635944]|Hereditary cancer-predisposing syndrome [RCV000129864]|Malignant tumor of breast [RCV001358375] |
Chr16:23635892 [GRCh38]
Chr16:23647213 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2568A>C (p.Gln856His) |
single nucleotide variant |
Familial cancer of breast [RCV000476959]|Hereditary cancer-predisposing syndrome [RCV000129881]|not provided [RCV000486393] |
Chr16:23629222 [GRCh38]
Chr16:23640543 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2091C>A (p.Gly697=) |
single nucleotide variant |
Familial cancer of breast [RCV000211080]|not specified [RCV000427677] |
Chr16:23630063 [GRCh38]
Chr16:23641384 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1931G>A (p.Gly644Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000211083]|Hereditary cancer-predisposing syndrome [RCV003362729] |
Chr16:23630223 [GRCh38]
Chr16:23641544 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 |
copy number gain |
See cases [RCV000135594] |
Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 |
copy number gain |
See cases [RCV000140235] |
Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1924del (p.Met642fs) |
deletion |
Familial cancer of breast [RCV000410708]|Hereditary cancer-predisposing syndrome [RCV000160805]|not provided [RCV000212803] |
Chr16:23630230 [GRCh38]
Chr16:23641551 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2032del (p.Leu678fs) |
deletion |
Familial cancer of breast [RCV000528815]|Hereditary cancer-predisposing syndrome [RCV000160807]|not provided [RCV000254675] |
Chr16:23630122 [GRCh38]
Chr16:23641443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2154del (p.Arg718fs) |
deletion |
Familial cancer of breast [RCV003453275]|not provided [RCV000160808] |
Chr16:23630000 [GRCh38]
Chr16:23641321 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) |
duplication |
Familial cancer of breast [RCV000465671]|Hereditary cancer-predisposing syndrome [RCV000160809]|Malignant tumor of breast [RCV002271430]|PALB2-related disorder [RCV004724949]|not provided [RCV000497297] |
Chr16:23626338..23626339 [GRCh38]
Chr16:23637659..23637660 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) |
deletion |
Familial cancer of breast [RCV000232116]|Familial cancer of breast [RCV002492637]|Gastric cancer [RCV003162679]|Hereditary breast ovarian cancer syndrome [RCV001193416]|Hereditary cancer-predisposing syndrome [RCV000160810]|PALB2-related disorder [RCV004544473]|not provided [RCV000254678] |
Chr16:23626256..23626257 [GRCh38]
Chr16:23637577..23637578 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_024675.4(PALB2):c.786del (p.Glu263fs) |
deletion |
Familial cancer of breast [RCV001050697]|Hereditary breast ovarian cancer syndrome [RCV001804886]|Hereditary cancer-predisposing syndrome [RCV000574923]|not provided [RCV000160812] |
Chr16:23635760 [GRCh38]
Chr16:23647081 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.948del (p.Thr317fs) |
deletion |
Familial cancer of breast [RCV000463598]|Hereditary cancer-predisposing syndrome [RCV000454254]|not provided [RCV000160813] |
Chr16:23635598 [GRCh38]
Chr16:23646919 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1059del (p.Lys353fs) |
deletion |
Familial cancer of breast [RCV000230419]|Familial cancer of breast [RCV002498798]|Hereditary cancer-predisposing syndrome [RCV000575109]|not provided [RCV000160814] |
Chr16:23635487 [GRCh38]
Chr16:23646808 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2607C>A (p.Ser869=) |
single nucleotide variant |
Familial cancer of breast [RCV001082563]|Hereditary cancer-predisposing syndrome [RCV000566660]|not provided [RCV000590220]|not specified [RCV000160819] |
Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2748+16G>A |
single nucleotide variant |
Familial cancer of breast [RCV002053935]|Hereditary cancer-predisposing syndrome [RCV000581066]|not provided [RCV001580104]|not specified [RCV000160820] |
Chr16:23626220 [GRCh38]
Chr16:23637541 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3202-8G>A |
single nucleotide variant |
Familial cancer of breast [RCV001081288]|Hereditary cancer-predisposing syndrome [RCV000579984]|not provided [RCV000488296]|not specified [RCV000160821] |
Chr16:23608020 [GRCh38]
Chr16:23619341 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3202-8G>T |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798556]|Familial cancer of breast [RCV000476584]|Hereditary cancer-predisposing syndrome [RCV000580700]|not provided [RCV001284321]|not specified [RCV000160822] |
Chr16:23608020 [GRCh38]
Chr16:23619341 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1611G>C (p.Ser537=) |
single nucleotide variant |
Familial cancer of breast [RCV000875722]|Hereditary cancer-predisposing syndrome [RCV002399587]|not specified [RCV000160823] |
Chr16:23634935 [GRCh38]
Chr16:23646256 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1641C>T (p.Thr547=) |
single nucleotide variant |
Familial cancer of breast [RCV001083201]|Hereditary cancer-predisposing syndrome [RCV000160824]|not provided [RCV000198904]|not specified [RCV000212799] |
Chr16:23634905 [GRCh38]
Chr16:23646226 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_024675.4(PALB2):c.-5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561746]|not specified [RCV000160825] |
Chr16:23641162 [GRCh38]
Chr16:23652483 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001238865]|Fanconi anemia complementation group N [RCV001781504]|Hereditary breast ovarian cancer syndrome [RCV003155926]|Hereditary cancer-predisposing syndrome [RCV000771400]|PALB2-related disorder [RCV004724950]|not provided [RCV000160827] |
Chr16:23630430 [GRCh38]
Chr16:23641751 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2615T>C (p.Val872Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000462998]|Hereditary cancer-predisposing syndrome [RCV000216057]|Malignant tumor of breast [RCV001356561]|not provided [RCV000160828]|not specified [RCV001420923] |
Chr16:23626369 [GRCh38]
Chr16:23637690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000543305]|Hereditary cancer-predisposing syndrome [RCV000564254]|not provided [RCV000160829]|not specified [RCV001797644] |
Chr16:23607979 [GRCh38]
Chr16:23619300 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV000206312]|Familial cancer of breast [RCV002498799]|Fanconi anemia complementation group N [RCV001781505]|Hereditary cancer-predisposing syndrome [RCV000213220]|PALB2-related disorder [RCV004739509]|not provided [RCV000160830] |
Chr16:23636336 [GRCh38]
Chr16:23647657 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000524596]|Hereditary cancer-predisposing syndrome [RCV001020802]|not provided [RCV000160831] |
Chr16:23636182 [GRCh38]
Chr16:23647503 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.397A>G (p.Ser133Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000227552]|Hereditary cancer-predisposing syndrome [RCV000454193]|not provided [RCV000587887] |
Chr16:23636149 [GRCh38]
Chr16:23647470 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000466032]|Familial cancer of breast [RCV000765278]|Hereditary cancer-predisposing syndrome [RCV000220109]|not provided [RCV000160833] |
Chr16:23635578 [GRCh38]
Chr16:23646899 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp) |
single nucleotide variant |
Familial cancer of breast [RCV000810010]|Hereditary cancer-predisposing syndrome [RCV000571438]|not provided [RCV000160834] |
Chr16:23635139 [GRCh38]
Chr16:23646460 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001036521]|Hereditary cancer-predisposing syndrome [RCV000567534]|not provided [RCV000160835] |
Chr16:23641115 [GRCh38]
Chr16:23652436 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000548729]|Familial cancer of breast [RCV002505195]|Hereditary cancer-predisposing syndrome [RCV000217309]|not provided [RCV000160836] |
Chr16:23630134 [GRCh38]
Chr16:23641455 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) |
single nucleotide variant |
Familial cancer of breast [RCV000211076]|Hereditary cancer-predisposing syndrome [RCV000160837]|not provided [RCV000212805] |
Chr16:23630048 [GRCh38]
Chr16:23641369 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000232377]|Familial cancer of breast [RCV002485000]|Hereditary cancer-predisposing syndrome [RCV000569204]|PALB2-related disorder [RCV004535048]|not provided [RCV000160838]|not specified [RCV000780572] |
Chr16:23630026 [GRCh38]
Chr16:23641347 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002466252]|Hereditary cancer-predisposing syndrome [RCV002426793]|not provided [RCV000160839] |
Chr16:23629925 [GRCh38]
Chr16:23641246 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000204167]|Hereditary cancer-predisposing syndrome [RCV000160841]|not provided [RCV000212809] |
Chr16:23629825 [GRCh38]
Chr16:23641146 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000460019]|Hereditary cancer [RCV004700497]|Hereditary cancer-predisposing syndrome [RCV001015124]|not provided [RCV000160842] |
Chr16:23629801 [GRCh38]
Chr16:23641122 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) |
single nucleotide variant |
Familial cancer of breast [RCV000555792]|Familial cancer of breast [RCV002485001]|Hereditary cancer-predisposing syndrome [RCV000216145]|not provided [RCV000160844] |
Chr16:23626285 [GRCh38]
Chr16:23637606 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2798G>A (p.Cys933Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000228665]|Hereditary cancer-predisposing syndrome [RCV000571562]|not provided [RCV000160846] |
Chr16:23624045 [GRCh38]
Chr16:23635366 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000635960]|Familial cancer of breast [RCV002478488]|Hereditary cancer-predisposing syndrome [RCV001016726]|Malignant tumor of breast [RCV001268941]|not provided [RCV000160847] |
Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000205333]|Hereditary cancer-predisposing syndrome [RCV000566246]|Malignant tumor of breast [RCV001355089]|not provided [RCV000160849]|not specified [RCV002267894] |
Chr16:23623043 [GRCh38]
Chr16:23634364 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3191A>G (p.Tyr1064Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000467780]|Hereditary cancer-predisposing syndrome [RCV000774624]|not provided [RCV000160850] |
Chr16:23614014 [GRCh38]
Chr16:23625335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003483530]|Familial cancer of breast [RCV000197231]|Hereditary cancer-predisposing syndrome [RCV000223658]|Malignant tumor of breast [RCV001357444]|not provided [RCV000160854] |
Chr16:23607936 [GRCh38]
Chr16:23619257 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) |
single nucleotide variant |
Carcinoma of colon [RCV001030415]|Familial cancer of breast [RCV000232726]|Familial cancer of breast [RCV002492638]|Hereditary cancer-predisposing syndrome [RCV000570480]|not provided [RCV000589198]|not specified [RCV000855602] |
Chr16:23603616 [GRCh38]
Chr16:23614937 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3452T>A (p.Leu1151His) |
single nucleotide variant |
Familial cancer of breast [RCV000799466]|Hereditary cancer-predisposing syndrome [RCV003162680]|not provided [RCV000160856] |
Chr16:23603568 [GRCh38]
Chr16:23614889 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3474T>A (p.His1158Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000464364]|Hereditary cancer-predisposing syndrome [RCV000576122]|not provided [RCV000160857] |
Chr16:23603546 [GRCh38]
Chr16:23614867 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV000803061]|Hereditary cancer-predisposing syndrome [RCV000572657]|not provided [RCV000160858] |
Chr16:23637954 [GRCh38]
Chr16:23649275 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.161A>G (p.Glu54Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000463943]|Hereditary cancer-predisposing syndrome [RCV000160859]|not provided [RCV000212769]|not specified [RCV000780564] |
Chr16:23637900 [GRCh38]
Chr16:23649221 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.187C>T (p.Leu63Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000469950]|Familial cancer of breast [RCV000765279]|Hereditary cancer-predisposing syndrome [RCV000576103]|not provided [RCV000160860] |
Chr16:23637874 [GRCh38]
Chr16:23649195 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.208T>C (p.Ser70Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001234988]|Hereditary cancer-predisposing syndrome [RCV003298193]|not provided [RCV000160861] |
Chr16:23637853 [GRCh38]
Chr16:23649174 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.262C>G (p.Leu88Val) |
single nucleotide variant |
Familial cancer of breast [RCV000701072]|Hereditary cancer-predisposing syndrome [RCV001016091]|not provided [RCV000160862] |
Chr16:23636284 [GRCh38]
Chr16:23647605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.521A>G (p.Lys174Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000557614]|Hereditary cancer-predisposing syndrome [RCV000774644]|not provided [RCV000160863] |
Chr16:23636025 [GRCh38]
Chr16:23647346 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.535C>G (p.Gln179Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001850272]|not provided [RCV000160864]|not specified [RCV003321524] |
Chr16:23636011 [GRCh38]
Chr16:23647332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.587G>A (p.Arg196Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000228567]|Hereditary cancer-predisposing syndrome [RCV000216462]|PALB2-related disorder [RCV004535049]|not provided [RCV000160865] |
Chr16:23635959 [GRCh38]
Chr16:23647280 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000471920]|Hereditary cancer-predisposing syndrome [RCV000561729]|not provided [RCV000160866] |
Chr16:23635858 [GRCh38]
Chr16:23647179 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000528086]|Familial cancer of breast [RCV002492639]|Hereditary cancer-predisposing syndrome [RCV000773131]|not provided [RCV000160867] |
Chr16:23635390 [GRCh38]
Chr16:23646711 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000549785]|Hereditary cancer-predisposing syndrome [RCV000160868]|not provided [RCV000212793] |
Chr16:23635146 [GRCh38]
Chr16:23646467 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635626]|Familial cancer of breast [RCV002485002]|Hereditary cancer-predisposing syndrome [RCV000216241]|PALB2-related disorder [RCV004535050]|not provided [RCV000160869] |
Chr16:23635075 [GRCh38]
Chr16:23646396 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000197379]|Fanconi anemia complementation group N [RCV000368837]|Hereditary breast ovarian cancer syndrome [RCV001030650]|Hereditary cancer-predisposing syndrome [RCV000160870]|Malignant tumor of breast [RCV001356483]|not provided [RCV000858743]|not specified [RCV000200991] |
Chr16:23635054 [GRCh38]
Chr16:23646375 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) |
single nucleotide variant |
Carcinoma of colon [RCV001030240]|Familial cancer of breast [RCV000168207]|Fanconi anemia complementation group N [RCV001121722]|Hereditary cancer-predisposing syndrome [RCV000220923]|PALB2-related disorder [RCV004535051]|not provided [RCV000160871] |
Chr16:23634936 [GRCh38]
Chr16:23646257 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000197594]|Familial cancer of breast [RCV002478489]|Hereditary cancer-predisposing syndrome [RCV000160873]|not provided [RCV000235192] |
Chr16:23641121 [GRCh38]
Chr16:23652442 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.833_834ATdelTAinsAT |
insertion |
Hereditary cancer-predisposing syndrome [RCV000160815] |
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.372C>T (p.Thr124=) |
single nucleotide variant |
Familial cancer of breast [RCV000537604]|Hereditary cancer-predisposing syndrome [RCV000164424]|PALB2-related disorder [RCV004535099]|not specified [RCV002271436] |
Chr16:23636174 [GRCh38]
Chr16:23647495 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1846G>C (p.Asp616His) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003989339]|Familial cancer of breast [RCV000635889]|Familial cancer of breast [RCV002492657]|Hereditary cancer-predisposing syndrome [RCV000164427]|not provided [RCV000483250]|not specified [RCV001269117] |
Chr16:23630308 [GRCh38]
Chr16:23641629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1222T>G (p.Tyr408Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001362967]|Hereditary cancer-predisposing syndrome [RCV000164451]|not provided [RCV001030205] |
Chr16:23635324 [GRCh38]
Chr16:23646645 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000234405]|Hereditary cancer-predisposing syndrome [RCV000164472]|PALB2-related disorder [RCV004724955]|not provided [RCV000656933]|not specified [RCV000481543] |
Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2271A>G (p.Thr757=) |
single nucleotide variant |
Familial cancer of breast [RCV000934630]|Hereditary cancer-predisposing syndrome [RCV000164529] |
Chr16:23629883 [GRCh38]
Chr16:23641204 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000698708]|Hereditary cancer-predisposing syndrome [RCV000164551] |
Chr16:23629926 [GRCh38]
Chr16:23641247 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000525404]|Hereditary cancer-predisposing syndrome [RCV000164567]|not provided [RCV000480806]|not specified [RCV002265643] |
Chr16:23635138 [GRCh38]
Chr16:23646459 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs) |
duplication |
Familial cancer of breast [RCV003454398]|Hereditary cancer-predisposing syndrome [RCV000164597] |
Chr16:23607969..23607970 [GRCh38]
Chr16:23619290..23619291 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.40A>G (p.Lys14Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000693912]|Hereditary cancer-predisposing syndrome [RCV000164630]|not provided [RCV001565871] |
Chr16:23641118 [GRCh38]
Chr16:23652439 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2208C>A (p.Ala736=) |
single nucleotide variant |
Familial cancer of breast [RCV000204026]|Hereditary cancer-predisposing syndrome [RCV000164661]|not provided [RCV001800485]|not specified [RCV000417789] |
Chr16:23629946 [GRCh38]
Chr16:23641267 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000199940]|Hereditary cancer-predisposing syndrome [RCV000164663]|not provided [RCV000236984]|not specified [RCV002222417] |
Chr16:23638078 [GRCh38]
Chr16:23649399 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000204324]|Hereditary cancer-predisposing syndrome [RCV000164773]|PALB2-related disorder [RCV004535105] |
Chr16:23635449 [GRCh38]
Chr16:23646770 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.169T>A (p.Cys57Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164803] |
Chr16:23637892 [GRCh38]
Chr16:23649213 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000200449]|Hereditary cancer-predisposing syndrome [RCV000164806]|Malignant tumor of breast [RCV001357471]|not provided [RCV000766544] |
Chr16:23635596 [GRCh38]
Chr16:23646917 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000816063]|Familial cancer of breast [RCV002485036]|Hereditary cancer-predisposing syndrome [RCV000166777]|not provided [RCV000587507] |
Chr16:23603569 [GRCh38]
Chr16:23614890 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1510G>A (p.Val504Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000816945]|Hereditary cancer-predisposing syndrome [RCV000166778] |
Chr16:23635036 [GRCh38]
Chr16:23646357 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1545A>G (p.Lys515=) |
single nucleotide variant |
Familial cancer of breast [RCV000545596]|Hereditary cancer-predisposing syndrome [RCV000166787]|not specified [RCV000606738] |
Chr16:23635001 [GRCh38]
Chr16:23646322 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3204G>A (p.Gly1068=) |
single nucleotide variant |
Familial cancer of breast [RCV000636006]|Hereditary cancer-predisposing syndrome [RCV000166794]|PALB2-related disorder [RCV004539562]|not provided [RCV001579700]|not specified [RCV000602197] |
Chr16:23608010 [GRCh38]
Chr16:23619331 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) |
deletion |
Familial cancer of breast [RCV000635888]|Fanconi anemia complementation group N [RCV002243834]|Hereditary cancer-predisposing syndrome [RCV000166810] |
Chr16:23621468..23621471 [GRCh38]
Chr16:23632789..23632792 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000989572]|Fanconi anemia complementation group N [RCV000289282]|Hereditary breast ovarian cancer syndrome [RCV001030716]|Hereditary cancer-predisposing syndrome [RCV000166836]|PALB2-related disorder [RCV004739541]|not provided [RCV000483813]|not specified [RCV000780567] |
Chr16:23635167 [GRCh38]
Chr16:23646488 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000198293]|Hereditary cancer-predisposing syndrome [RCV000166837]|PALB2-related disorder [RCV004545875]|not provided [RCV000236203]|not specified [RCV001420780] |
Chr16:23635423 [GRCh38]
Chr16:23646744 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_024675.4(PALB2):c.1095G>A (p.Arg365=) |
single nucleotide variant |
Familial cancer of breast [RCV000934638]|Hereditary cancer-predisposing syndrome [RCV000166857]|Malignant tumor of breast [RCV001357372]|not specified [RCV000605029] |
Chr16:23635451 [GRCh38]
Chr16:23646772 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1659C>G (p.His553Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000547924]|Hereditary cancer-predisposing syndrome [RCV000166875]|not specified [RCV001201201] |
Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000548591]|Hereditary cancer-predisposing syndrome [RCV000166908] |
Chr16:23603475 [GRCh38]
Chr16:23614796 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000205169]|Familial cancer of breast [RCV002485020]|Hereditary cancer-predisposing syndrome [RCV000164864]|not provided [RCV000486708] |
Chr16:23635453 [GRCh38]
Chr16:23646774 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684G>A (p.Gly562Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000686970]|Hereditary cancer-predisposing syndrome [RCV000164956] |
Chr16:23634862 [GRCh38]
Chr16:23646183 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3367G>A (p.Val1123Met) |
single nucleotide variant |
Familial cancer of breast [RCV000211079]|Familial cancer of breast [RCV002485022]|Hereditary cancer-predisposing syndrome [RCV000164958]|not provided [RCV000479580] |
Chr16:23603653 [GRCh38]
Chr16:23614974 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.788A>G (p.Glu263Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000233981]|Hereditary cancer-predisposing syndrome [RCV000164996]|not provided [RCV000485489] |
Chr16:23635758 [GRCh38]
Chr16:23647079 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.503C>T (p.Ser168Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001035722]|Hereditary cancer-predisposing syndrome [RCV000166977]|not provided [RCV000759191] |
Chr16:23636043 [GRCh38]
Chr16:23647364 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2831T>A (p.Ile944Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003162715]|Hereditary cancer-predisposing syndrome [RCV000166978] |
Chr16:23624012 [GRCh38]
Chr16:23635333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2508C>G (p.Val836=) |
single nucleotide variant |
Familial cancer of breast [RCV000410515]|Hereditary cancer-predisposing syndrome [RCV000166988]|PALB2-related disorder [RCV004535131]|not provided [RCV001706089]|not specified [RCV001818395] |
Chr16:23629646 [GRCh38]
Chr16:23640967 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000226421]|Familial cancer of breast [RCV002505215]|Fanconi anemia complementation group N [RCV003129793]|Hereditary cancer-predisposing syndrome [RCV000166996]|not provided [RCV001566992]|not specified [RCV003321534] |
Chr16:23629798 [GRCh38]
Chr16:23641119 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.36G>A (p.Glu12=) |
single nucleotide variant |
Familial cancer of breast [RCV000476001]|Hereditary cancer-predisposing syndrome [RCV000165018] |
Chr16:23641122 [GRCh38]
Chr16:23652443 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.9G>A (p.Glu3=) |
single nucleotide variant |
Familial cancer of breast [RCV000204176]|Hereditary cancer-predisposing syndrome [RCV000165076]|not provided [RCV001721067]|not specified [RCV000418049] |
Chr16:23641149 [GRCh38]
Chr16:23652470 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) |
single nucleotide variant |
Endometrial carcinoma [RCV001256975]|Familial cancer of breast [RCV001086620]|Hereditary cancer-predisposing syndrome [RCV000165079]|not provided [RCV000236812]|not specified [RCV000780569] |
Chr16:23629680 [GRCh38]
Chr16:23641001 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000819569]|Hereditary cancer-predisposing syndrome [RCV000165089]|not specified [RCV003398840] |
Chr16:23634952 [GRCh38]
Chr16:23646273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2782G>A (p.Val928Met) |
single nucleotide variant |
Familial cancer of breast [RCV002516474]|Hereditary cancer-predisposing syndrome [RCV000165137] |
Chr16:23624061 [GRCh38]
Chr16:23635382 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.900A>G (p.Thr300=) |
single nucleotide variant |
Familial cancer of breast [RCV000205195]|Familial cancer of breast [RCV002485038]|Hereditary cancer-predisposing syndrome [RCV000167125]|PALB2-related disorder [RCV004535134]|not provided [RCV001721087] |
Chr16:23635646 [GRCh38]
Chr16:23646967 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001310142]|Generalized hypopigmentation [RCV000414940]|Hereditary breast ovarian cancer syndrome [RCV000587378]|Hereditary cancer-predisposing syndrome [RCV000167136]|Malignant tumor of breast [RCV001356904]|not provided [RCV001543564] |
Chr16:23635095 [GRCh38]
Chr16:23646416 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000410345]|Hereditary cancer-predisposing syndrome [RCV000167185] |
Chr16:23630446 [GRCh38]
Chr16:23641767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1273G>A (p.Val425Met) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491915]|Familial cancer of breast [RCV000205365]|Hereditary breast ovarian cancer syndrome [RCV004689644]|Hereditary cancer-predisposing syndrome [RCV000167189]|Malignant tumor of breast [RCV001358598]|PALB2-related disorder [RCV004539565]|not provided [RCV000236471]|not specified [RCV001030212] |
Chr16:23635273 [GRCh38]
Chr16:23646594 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165251] |
Chr16:23630224 [GRCh38]
Chr16:23641545 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1209G>A (p.Leu403=) |
single nucleotide variant |
Familial cancer of breast [RCV001083443]|Hereditary cancer-predisposing syndrome [RCV000165272]|not provided [RCV000467675]|not specified [RCV000440263] |
Chr16:23635337 [GRCh38]
Chr16:23646658 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000411877]|Hereditary cancer-predisposing syndrome [RCV000165275] |
Chr16:23630439 [GRCh38]
Chr16:23641760 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) |
microsatellite |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003991017]|Familial cancer of breast [RCV000540873]|Hereditary cancer-predisposing syndrome [RCV000165289]|not provided [RCV000133486] |
Chr16:23603591..23603594 [GRCh38]
Chr16:23614912..23614915 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000456550]|Hereditary cancer-predisposing syndrome [RCV000165291]|not provided [RCV002284368] |
Chr16:23626322 [GRCh38]
Chr16:23637643 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000476189]|Hereditary cancer-predisposing syndrome [RCV000162394]|not provided [RCV004589674] |
Chr16:23629701 [GRCh38]
Chr16:23641022 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1623G>A (p.Arg541=) |
single nucleotide variant |
Familial cancer of breast [RCV000204373]|Hereditary cancer-predisposing syndrome [RCV000162458]|not provided [RCV000759896]|not specified [RCV001192768] |
Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2253T>C (p.Ala751=) |
single nucleotide variant |
Familial cancer of breast [RCV000465740]|Hereditary cancer-predisposing syndrome [RCV000162576]|not provided [RCV001711322] |
Chr16:23629901 [GRCh38]
Chr16:23641222 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1257C>T (p.Cys419=) |
single nucleotide variant |
Familial cancer of breast [RCV000942401]|Hereditary cancer-predisposing syndrome [RCV000162584] |
Chr16:23635289 [GRCh38]
Chr16:23646610 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1599T>C (p.Thr533=) |
single nucleotide variant |
Familial cancer of breast [RCV000232866]|Fanconi anemia complementation group N [RCV001121723]|Hereditary cancer-predisposing syndrome [RCV000162589]|PALB2-related disorder [RCV004544477]|not provided [RCV001704155]|not specified [RCV001818362] |
Chr16:23634947 [GRCh38]
Chr16:23646268 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.824C>T (p.Thr275Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000663229]|Hereditary cancer-predisposing syndrome [RCV000165341]|Malignant tumor of breast [RCV001355748]|not provided [RCV001824291] |
Chr16:23635722 [GRCh38]
Chr16:23647043 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2277A>G (p.Gln759=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150021]|Familial cancer of breast [RCV000472744]|Fanconi anemia complementation group N [RCV001119745]|Hereditary cancer-predisposing syndrome [RCV000165372]|PALB2-related disorder [RCV004535111]|not specified [RCV000614133] |
Chr16:23629877 [GRCh38]
Chr16:23641198 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2067G>A (p.Ser689=) |
single nucleotide variant |
Carcinoma of colon [RCV001356268]|Familial cancer of breast [RCV000197495]|Fanconi anemia complementation group N [RCV001119747]|Hereditary cancer-predisposing syndrome [RCV000165391]|PALB2-related disorder [RCV004535112]|not provided [RCV001284030]|not specified [RCV000420216] |
Chr16:23630087 [GRCh38]
Chr16:23641408 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000460541]|Hereditary cancer-predisposing syndrome [RCV000165411]|not provided [RCV001836740] |
Chr16:23635566 [GRCh38]
Chr16:23646887 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000195510]|Familial cancer of breast [RCV002478497]|Hereditary cancer-predisposing syndrome [RCV000162652]|Malignant tumor of breast [RCV001358491]|not provided [RCV000236626] |
Chr16:23603602 [GRCh38]
Chr16:23614923 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3525A>G (p.Gln1175=) |
single nucleotide variant |
Familial cancer of breast [RCV000470645]|Hereditary cancer-predisposing syndrome [RCV000162726]|PALB2-related disorder [RCV004544483] |
Chr16:23603495 [GRCh38]
Chr16:23614816 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2082A>G (p.Thr694=) |
single nucleotide variant |
Familial cancer of breast [RCV000205968]|Hereditary cancer-predisposing syndrome [RCV000162752]|PALB2-related disorder [RCV004535058]|not provided [RCV000759184]|not specified [RCV000507922] |
Chr16:23630072 [GRCh38]
Chr16:23641393 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3287A>G (p.Asn1096Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001030403]|Hereditary cancer-predisposing syndrome [RCV000162754] |
Chr16:23607927 [GRCh38]
Chr16:23619248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3203G>C (p.Gly1068Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000463764]|Hereditary cancer-predisposing syndrome [RCV000165472] |
Chr16:23608011 [GRCh38]
Chr16:23619332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-5A>C |
single nucleotide variant |
Familial cancer of breast [RCV000526871]|Hereditary cancer-predisposing syndrome [RCV000165540] |
Chr16:23603674 [GRCh38]
Chr16:23614995 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2810G>A (p.Gly937Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000206821]|Hereditary cancer-predisposing syndrome [RCV000165549] |
Chr16:23624033 [GRCh38]
Chr16:23635354 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV000635768]|Hereditary breast ovarian cancer syndrome [RCV003155927]|Hereditary cancer-predisposing syndrome [RCV000165555]|not provided [RCV000487378] |
Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.210A>C (p.Ser70=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165562] |
Chr16:23637851 [GRCh38]
Chr16:23649172 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2418G>A (p.Pro806=) |
single nucleotide variant |
Familial cancer of breast [RCV000233118]|Hereditary cancer-predisposing syndrome [RCV000162786]|not provided [RCV001721029]|not specified [RCV000426070] |
Chr16:23629736 [GRCh38]
Chr16:23641057 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|likely benign |
| NM_024675.4(PALB2):c.2244A>G (p.Thr748=) |
single nucleotide variant |
Familial cancer of breast [RCV000211088]|Hereditary cancer-predisposing syndrome [RCV000163058]|not provided [RCV000759186]|not specified [RCV000600407] |
Chr16:23629910 [GRCh38]
Chr16:23641231 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2601C>T (p.Ser867=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163108] |
Chr16:23626383 [GRCh38]
Chr16:23637704 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000227242]|Hereditary cancer-predisposing syndrome [RCV000167226]|Malignant tumor of breast [RCV002271440]|not provided [RCV000485825] |
Chr16:23622979 [GRCh38]
Chr16:23634300 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.423G>A (p.Gln141=) |
single nucleotide variant |
Familial cancer of breast [RCV000409495]|Hereditary cancer-predisposing syndrome [RCV000165612]|PALB2-related disorder [RCV004535115]|not provided [RCV001721073] |
Chr16:23636123 [GRCh38]
Chr16:23647444 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1662A>G (p.Glu554=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491900]|Familial cancer of breast [RCV000462332]|Hereditary cancer-predisposing syndrome [RCV000165629]|not provided [RCV001567936] |
Chr16:23634884 [GRCh38]
Chr16:23646205 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3433G>A (p.Gly1145Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000798287]|Hereditary cancer-predisposing syndrome [RCV000165631] |
Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile) |
single nucleotide variant |
Carcinoma of colon [RCV001030228]|Familial cancer of breast [RCV000205126]|Hereditary cancer-predisposing syndrome [RCV000165637]|not specified [RCV000507136] |
Chr16:23635092 [GRCh38]
Chr16:23646413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.495C>T (p.Gly165=) |
single nucleotide variant |
Bile duct cancer [RCV001357741]|Familial cancer of breast [RCV000532734]|Fanconi anemia complementation group N [RCV001119841]|Hereditary cancer-predisposing syndrome [RCV000165654]|not provided [RCV000679773]|not specified [RCV000444952] |
Chr16:23636051 [GRCh38]
Chr16:23647372 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1505A>G (p.Lys502Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165659] |
Chr16:23635041 [GRCh38]
Chr16:23646362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2955T>G (p.Ser985=) |
single nucleotide variant |
Familial cancer of breast [RCV000200287]|Hereditary cancer-predisposing syndrome [RCV000163267]|not provided [RCV003477589]|not specified [RCV000612434] |
Chr16:23623010 [GRCh38]
Chr16:23634331 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000463323]|Hereditary breast ovarian cancer syndrome [RCV000586368]|Hereditary cancer-predisposing syndrome [RCV000167296]|not provided [RCV000523563] |
Chr16:23635606 [GRCh38]
Chr16:23646927 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.339A>C (p.Pro113=) |
single nucleotide variant |
Familial cancer of breast [RCV000921954]|Hereditary cancer-predisposing syndrome [RCV000167306]|PALB2-related disorder [RCV004539567]|not provided [RCV001636704]|not specified [RCV000781691] |
Chr16:23636207 [GRCh38]
Chr16:23647528 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2382G>A (p.Arg794=) |
single nucleotide variant |
Familial cancer of breast [RCV002053993]|Hereditary cancer-predisposing syndrome [RCV000167317] |
Chr16:23629772 [GRCh38]
Chr16:23641093 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.637G>C (p.Val213Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635925]|Familial cancer of breast [RCV002485041]|Hereditary cancer-predisposing syndrome [RCV000167372]|not specified [RCV001193467] |
Chr16:23635909 [GRCh38]
Chr16:23647230 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001350067]|Hereditary cancer-predisposing syndrome [RCV000167376]|not specified [RCV001778766] |
Chr16:23635113 [GRCh38]
Chr16:23646434 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2902G>A (p.Ala968Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001850325]|Hereditary cancer-predisposing syndrome [RCV000165827] |
Chr16:23623063 [GRCh38]
Chr16:23634384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.9G>T (p.Glu3Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001036481]|Hereditary cancer-predisposing syndrome [RCV000165831]|not provided [RCV001564218]|not specified [RCV001194141] |
Chr16:23641149 [GRCh38]
Chr16:23652470 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.538G>A (p.Glu180Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000700154]|Hereditary cancer-predisposing syndrome [RCV000165834] |
Chr16:23636008 [GRCh38]
Chr16:23647329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000411000]|Hereditary cancer-predisposing syndrome [RCV000165876]|not specified [RCV001824655] |
Chr16:23629843 [GRCh38]
Chr16:23641164 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000230594]|Hereditary cancer-predisposing syndrome [RCV000165880]|not provided [RCV004692776] |
Chr16:23635516 [GRCh38]
Chr16:23646837 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3282G>A (p.Val1094=) |
single nucleotide variant |
Familial cancer of breast [RCV000411397]|Hereditary cancer-predisposing syndrome [RCV000163456]|not provided [RCV001721045] |
Chr16:23607932 [GRCh38]
Chr16:23619253 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3069A>G (p.Gln1023=) |
single nucleotide variant |
Familial cancer of breast [RCV000931143]|Hereditary cancer-predisposing syndrome [RCV000163477] |
Chr16:23621406 [GRCh38]
Chr16:23632727 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2130G>A (p.Thr710=) |
single nucleotide variant |
Familial cancer of breast [RCV000635758]|Hereditary cancer-predisposing syndrome [RCV000163496]|not provided [RCV000486987]|not specified [RCV000781696] |
Chr16:23630024 [GRCh38]
Chr16:23641345 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2747_2748+4del |
deletion |
Familial cancer of breast [RCV000552616]|Hereditary cancer-predisposing syndrome [RCV000167394]|not provided [RCV000708616] |
Chr16:23626232..23626237 [GRCh38]
Chr16:23637553..23637558 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) |
single nucleotide variant |
Carcinoma of colon [RCV001030258]|Familial cancer of breast [RCV000474329]|Hereditary cancer-predisposing syndrome [RCV000167418]|Malignant tumor of breast [RCV001357624]|PALB2-related disorder [RCV004739545]|not provided [RCV000479496]|not specified [RCV001175052] |
Chr16:23630388 [GRCh38]
Chr16:23641709 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1881G>A (p.Val627=) |
single nucleotide variant |
Familial cancer of breast [RCV001087589]|Hereditary cancer-predisposing syndrome [RCV000167465]|not provided [RCV000636028]|not specified [RCV000608586] |
Chr16:23630273 [GRCh38]
Chr16:23641594 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3114-5C>T |
single nucleotide variant |
Familial cancer of breast [RCV000934763]|Hereditary cancer-predisposing syndrome [RCV000167480]|not provided [RCV001775654] |
Chr16:23614096 [GRCh38]
Chr16:23625417 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000456974]|Hereditary cancer-predisposing syndrome [RCV000167483] |
Chr16:23630196 [GRCh38]
Chr16:23641517 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2985A>T (p.Ala995=) |
single nucleotide variant |
Familial cancer of breast [RCV001430096]|Familial cancer of breast [RCV002492665]|Hereditary cancer-predisposing syndrome [RCV000165948]|not provided [RCV000924813] |
Chr16:23622980 [GRCh38]
Chr16:23634301 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000197146]|Hereditary cancer-predisposing syndrome [RCV000165968]|not provided [RCV001030253] |
Chr16:23630463 [GRCh38]
Chr16:23641784 [GRCh37]
Chr16:16p12.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2649A>G (p.Lys883=) |
single nucleotide variant |
Familial cancer of breast [RCV000636025]|Hereditary cancer-predisposing syndrome [RCV000166006] |
Chr16:23626335 [GRCh38]
Chr16:23637656 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000228629]|Hereditary cancer-predisposing syndrome [RCV000166018]|not provided [RCV001775647] |
Chr16:23635294 [GRCh38]
Chr16:23646615 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2913C>A (p.Gly971=) |
single nucleotide variant |
Familial cancer of breast [RCV001445382]|Hereditary cancer-predisposing syndrome [RCV000163520] |
Chr16:23623052 [GRCh38]
Chr16:23634373 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.312T>C (p.Pro104=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150001]|Familial cancer of breast [RCV001082844]|Hereditary cancer-predisposing syndrome [RCV000163526]|not provided [RCV000679769]|not specified [RCV000421791] |
Chr16:23636234 [GRCh38]
Chr16:23647555 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1033T>C (p.Leu345=) |
single nucleotide variant |
Familial cancer of breast [RCV000472210]|Hereditary cancer-predisposing syndrome [RCV000163534]|not provided [RCV001571618]|not specified [RCV001030194] |
Chr16:23635513 [GRCh38]
Chr16:23646834 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.843T>C (p.Ile281=) |
single nucleotide variant |
Familial cancer of breast [RCV002516452]|Hereditary cancer-predisposing syndrome [RCV000163567] |
Chr16:23635703 [GRCh38]
Chr16:23647024 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.768C>T (p.Ser256=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150004]|Familial cancer of breast [RCV000206372]|Hereditary cancer-predisposing syndrome [RCV000163571]|Malignant tumor of breast [RCV001354332]|PALB2-related disorder [RCV004535077]|not provided [RCV000587304]|not specified [RCV001818368] |
Chr16:23635778 [GRCh38]
Chr16:23647099 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1272C>T (p.Ala424=) |
single nucleotide variant |
Familial cancer of breast [RCV000410129]|Familial cancer of breast [RCV002478498]|Hereditary cancer-predisposing syndrome [RCV000163630]|not provided [RCV001281734]|not specified [RCV000430438] |
Chr16:23635274 [GRCh38]
Chr16:23646595 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1014A>G (p.Pro338=) |
single nucleotide variant |
Familial cancer of breast [RCV001496214]|Hereditary cancer-predisposing syndrome [RCV000163646] |
Chr16:23635532 [GRCh38]
Chr16:23646853 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316004]|Familial cancer of breast [RCV000199114]|Familial cancer of breast [RCV002498809]|Familial ovarian cancer [RCV003447509]|Hereditary cancer-predisposing syndrome [RCV000163669]|PALB2-related disorder [RCV004539536]|not provided [RCV001704173]|not specified [RCV000436143] |
Chr16:23607917 [GRCh38]
Chr16:23619238 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000457524]|Hereditary breast ovarian cancer syndrome [RCV003226227]|Hereditary cancer-predisposing syndrome [RCV000166057]|PALB2-related disorder [RCV004528915]|not provided [RCV000480723] |
Chr16:23629818 [GRCh38]
Chr16:23641139 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1539A>T (p.Thr513=) |
single nucleotide variant |
Familial cancer of breast [RCV002516494]|Hereditary cancer-predisposing syndrome [RCV000166064] |
Chr16:23635007 [GRCh38]
Chr16:23646328 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1272C>G (p.Ala424=) |
single nucleotide variant |
Familial cancer of breast [RCV001473404]|Hereditary cancer-predisposing syndrome [RCV000166069]|not specified [RCV000442090] |
Chr16:23635274 [GRCh38]
Chr16:23646595 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000459199]|Familial cancer of breast [RCV002485027]|Hereditary cancer-predisposing syndrome [RCV000166087] |
Chr16:23630020 [GRCh38]
Chr16:23641341 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1395G>A (p.Met465Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635660]|Hereditary cancer-predisposing syndrome [RCV000166131] |
Chr16:23635151 [GRCh38]
Chr16:23646472 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2701C>G (p.Leu901Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166144] |
Chr16:23626283 [GRCh38]
Chr16:23637604 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000459460]|Familial cancer of breast [RCV002485029]|Hereditary cancer-predisposing syndrome [RCV000166174] |
Chr16:23635807 [GRCh38]
Chr16:23647128 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1755T>C (p.Asp585=) |
single nucleotide variant |
Familial cancer of breast [RCV000980044]|Hereditary cancer-predisposing syndrome [RCV000166184]|not specified [RCV000609583] |
Chr16:23630399 [GRCh38]
Chr16:23641720 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1291_1292del (p.His432fs) |
microsatellite |
Familial cancer of breast [RCV000635659]|Hereditary cancer-predisposing syndrome [RCV000166194]|not provided [RCV000657306] |
Chr16:23635254..23635255 [GRCh38]
Chr16:23646575..23646576 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000464125]|Hereditary cancer-predisposing syndrome [RCV000166198]|not provided [RCV000996241] |
Chr16:23630406 [GRCh38]
Chr16:23641727 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.957T>C (p.Ser319=) |
single nucleotide variant |
Familial cancer of breast [RCV002516497]|Hereditary cancer-predisposing syndrome [RCV000166224] |
Chr16:23635589 [GRCh38]
Chr16:23646910 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.142A>G (p.Ile48Val) |
single nucleotide variant |
Familial cancer of breast [RCV000200742]|Hereditary cancer-predisposing syndrome [RCV000166309]|not provided [RCV000213155] |
Chr16:23637919 [GRCh38]
Chr16:23649240 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2881C>T (p.Leu961=) |
single nucleotide variant |
Familial cancer of breast [RCV001082547]|Familial cancer of breast [RCV002498824]|Fanconi anemia complementation group N [RCV000314489]|Hereditary cancer-predisposing syndrome [RCV000166333]|not provided [RCV000586278]|not specified [RCV000440818] |
Chr16:23623084 [GRCh38]
Chr16:23634405 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1481C>A (p.Thr494Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166342] |
Chr16:23635065 [GRCh38]
Chr16:23646386 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1311A>G (p.Lys437=) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798577]|Familial cancer of breast [RCV000409601]|Hereditary cancer-predisposing syndrome [RCV000163802]|PALB2-related disorder [RCV004535084]|not provided [RCV001284668]|not specified [RCV000780558] |
Chr16:23635235 [GRCh38]
Chr16:23646556 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.405T>C (p.Pro135=) |
single nucleotide variant |
Familial cancer of breast [RCV000525958]|Hereditary cancer-predisposing syndrome [RCV000163924]|not provided [RCV001357587]|not specified [RCV000433802] |
Chr16:23636141 [GRCh38]
Chr16:23647462 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+2dup |
duplication |
Familial cancer of breast [RCV001046380]|Hereditary cancer-predisposing syndrome [RCV000166354]|not provided [RCV001557148] |
Chr16:23614001..23614002 [GRCh38]
Chr16:23625322..23625323 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000458684]|Familial cancer of breast [RCV000765273]|Hereditary cancer-predisposing syndrome [RCV000166375]|not specified [RCV002228767] |
Chr16:23635020 [GRCh38]
Chr16:23646341 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1026C>G (p.Asn342Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166424] |
Chr16:23635520 [GRCh38]
Chr16:23646841 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1790T>G (p.Met597Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000168192]|Hereditary cancer-predisposing syndrome [RCV000166427]|not provided [RCV001775650] |
Chr16:23630364 [GRCh38]
Chr16:23641685 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) |
single nucleotide variant |
Carcinoma of colon [RCV001030179]|Familial cancer of breast [RCV000477600]|Fanconi anemia complementation group N [RCV001336120]|Hereditary cancer-predisposing syndrome [RCV000166462]|not provided [RCV000235601] |
Chr16:23635717 [GRCh38]
Chr16:23647038 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000166469] |
Chr16:23630225..23630240 [GRCh38]
Chr16:23641546..23641561 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.49-2A>T |
single nucleotide variant |
Familial cancer of breast [RCV000198571]|Hereditary cancer-predisposing syndrome [RCV000166471]|not provided [RCV004719727] |
Chr16:23638131 [GRCh38]
Chr16:23649452 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000556676]|Hereditary cancer-predisposing syndrome [RCV000166472]|not provided [RCV001555224]|not specified [RCV001193465] |
Chr16:23635733 [GRCh38]
Chr16:23647054 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.843_845del (p.Arg282del) |
deletion |
Familial cancer of breast [RCV000476802]|Hereditary cancer-predisposing syndrome [RCV000166474]|not provided [RCV003237755] |
Chr16:23635701..23635703 [GRCh38]
Chr16:23647022..23647024 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2882T>C (p.Leu961Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000196629]|Hereditary cancer-predisposing syndrome [RCV000166475] |
Chr16:23623083 [GRCh38]
Chr16:23634404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150010]|Familial cancer of breast [RCV000197626]|Fanconi anemia complementation group N [RCV000296163]|Hereditary breast ovarian cancer syndrome [RCV001030648]|Hereditary cancer-predisposing syndrome [RCV000164010]|not provided [RCV000255110]|not specified [RCV000781684] |
Chr16:23629926 [GRCh38]
Chr16:23641247 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2569T>C (p.Leu857=) |
single nucleotide variant |
Familial cancer of breast [RCV001490279]|Hereditary cancer-predisposing syndrome [RCV000164027] |
Chr16:23629221 [GRCh38]
Chr16:23640542 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2337A>C (p.Ser779=) |
single nucleotide variant |
Familial cancer of breast [RCV000211059]|Hereditary cancer-predisposing syndrome [RCV000164043] |
Chr16:23629817 [GRCh38]
Chr16:23641138 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.195G>A (p.Pro65=) |
single nucleotide variant |
Familial cancer of breast [RCV000204765]|Familial cancer of breast [RCV002505204]|Hereditary cancer-predisposing syndrome [RCV000164062]|PALB2-related disorder [RCV004535090]|not provided [RCV000759183]|not specified [RCV000438495] |
Chr16:23637866 [GRCh38]
Chr16:23649187 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389046]|Familial cancer of breast [RCV000408812]|Hereditary cancer-predisposing syndrome [RCV000166492]|Malignant tumor of breast [RCV001354782]|not provided [RCV000483646]|not specified [RCV002298494] |
Chr16:23624051 [GRCh38]
Chr16:23635372 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000635797]|Hereditary cancer-predisposing syndrome [RCV000166501] |
Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000470017]|Familial cancer of breast [RCV002492670]|Hereditary cancer-predisposing syndrome [RCV000166543]|Malignant tumor of breast [RCV001355915]|not provided [RCV000478256]|not specified [RCV003479039] |
Chr16:23629810 [GRCh38]
Chr16:23641131 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.993A>G (p.Glu331=) |
single nucleotide variant |
Familial cancer of breast [RCV000411791]|Hereditary cancer-predisposing syndrome [RCV000166544] |
Chr16:23635553 [GRCh38]
Chr16:23646874 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1852G>A (p.Asp618Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001246033]|Hereditary cancer-predisposing syndrome [RCV000166567] |
Chr16:23630302 [GRCh38]
Chr16:23641623 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000456690]|Familial cancer of breast [RCV002498826]|Hereditary cancer-predisposing syndrome [RCV000166587]|not provided [RCV000520497] |
Chr16:23638077 [GRCh38]
Chr16:23649398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3520G>A (p.Gly1174Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000469459]|Hereditary cancer-predisposing syndrome [RCV000166607] |
Chr16:23603500 [GRCh38]
Chr16:23614821 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000232382]|Familial cancer of breast [RCV002505212]|Hereditary cancer-predisposing syndrome [RCV000166614] |
Chr16:23607970 [GRCh38]
Chr16:23619291 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) |
duplication |
Familial cancer of breast [RCV000815197]|Familial cancer of breast [RCV003483548]|Hereditary cancer-predisposing syndrome [RCV000166617]|PALB2-related disorder [RCV004724960] |
Chr16:23634928..23634929 [GRCh38]
Chr16:23646249..23646250 [GRCh37]
Chr16:16p12.2 |
pathogenic|not provided |
| NM_024675.4(PALB2):c.1920A>T (p.Ser640=) |
single nucleotide variant |
Familial cancer of breast [RCV000474783]|Hereditary cancer-predisposing syndrome [RCV000164122]|not specified [RCV001527022] |
Chr16:23630234 [GRCh38]
Chr16:23641555 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.84C>T (p.Tyr28=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316018]|Familial cancer of breast [RCV000195762]|Hereditary cancer-predisposing syndrome [RCV000164145]|not provided [RCV000679774]|not specified [RCV000428315] |
Chr16:23638094 [GRCh38]
Chr16:23649415 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2100A>T (p.Ser700=) |
single nucleotide variant |
Familial cancer of breast [RCV000200038]|Fanconi anemia complementation group N [RCV000347505]|Hereditary cancer-predisposing syndrome [RCV000164155]|PALB2-related disorder [RCV004539543]|not provided [RCV001358505]|not specified [RCV000611803] |
Chr16:23630054 [GRCh38]
Chr16:23641375 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1647_1648del (p.His549fs) |
microsatellite |
Familial cancer of breast [RCV004589745]|Hereditary cancer-predisposing syndrome [RCV000164237] |
Chr16:23634898..23634899 [GRCh38]
Chr16:23646219..23646220 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs) |
indel |
Familial cancer of breast [RCV003162710]|Hereditary cancer-predisposing syndrome [RCV000166663] |
Chr16:23629255..23629266 [GRCh38]
Chr16:23640576..23640587 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs) |
deletion |
Familial cancer of breast [RCV000688589]|Hereditary cancer-predisposing syndrome [RCV000166687] |
Chr16:23635460..23635461 [GRCh38]
Chr16:23646781..23646782 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.610T>G (p.Ser204Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166705] |
Chr16:23635936 [GRCh38]
Chr16:23647257 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.242A>G (p.Lys81Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001246886]|Hereditary cancer-predisposing syndrome [RCV000166745] |
Chr16:23636304 [GRCh38]
Chr16:23647625 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.266A>G (p.Asp89Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002517613]|Hereditary cancer-predisposing syndrome [RCV000164258] |
Chr16:23636280 [GRCh38]
Chr16:23647601 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000693357]|Hereditary cancer-predisposing syndrome [RCV000164284]|not provided [RCV000235242] |
Chr16:23635125 [GRCh38]
Chr16:23646446 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1692A>G (p.Lys564=) |
single nucleotide variant |
Familial cancer of breast [RCV001436402]|Hereditary cancer-predisposing syndrome [RCV000164335]|not specified [RCV000418479] |
Chr16:23630462 [GRCh38]
Chr16:23641783 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2478C>T (p.Asn826=) |
single nucleotide variant |
Familial cancer of breast [RCV000206600]|Hereditary cancer-predisposing syndrome [RCV000164395]|PALB2-related disorder [RCV004535097]|not specified [RCV000435545] |
Chr16:23629676 [GRCh38]
Chr16:23640997 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) |
microsatellite |
Familial cancer of breast [RCV000470633]|Hereditary breast ovarian cancer syndrome [RCV001778875]|Hereditary cancer-predisposing syndrome [RCV000568838]|PALB2-related disorder [RCV004535238]|not provided [RCV000254912] |
Chr16:23607969..23607970 [GRCh38]
Chr16:23619290..23619291 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001390098]|not provided [RCV000254924] |
Chr16:23635050 [GRCh38]
Chr16:23646371 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001855013]|Hereditary cancer-predisposing syndrome [RCV001525205]|not provided [RCV000254975] |
Chr16:23607980 [GRCh38]
Chr16:23619301 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000552634]|Fanconi anemia [RCV000509375]|Hereditary breast ovarian cancer syndrome [RCV003155937]|Hereditary cancer-predisposing syndrome [RCV000454204]|not provided [RCV000255054] |
Chr16:23629786 [GRCh38]
Chr16:23641107 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|not provided |
| NM_024675.4(PALB2):c.2996+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV001379452]|Hereditary cancer-predisposing syndrome [RCV001017834]|not provided [RCV000255151] |
Chr16:23622968 [GRCh38]
Chr16:23634289 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001066196]|Hereditary cancer-predisposing syndrome [RCV002392782]|not provided [RCV000255228] |
Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2597del (p.Gly866fs) |
deletion |
Familial cancer of breast [RCV000168153] |
Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1659C>A (p.His553Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000168288]|Hereditary cancer-predisposing syndrome [RCV000582233]|not provided [RCV000519942] |
Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000168304]|Hereditary cancer-predisposing syndrome [RCV002426800] |
Chr16:23626313 [GRCh38]
Chr16:23637634 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.2587-?_*(1_?)del |
deletion |
Familial cancer of breast [RCV000168323] |
Chr16:23603458..23626397 [GRCh38]
Chr16:23614779..23637718 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000168333]|Hereditary cancer-predisposing syndrome [RCV000561279]|PALB2-related disorder [RCV004739549]|not provided [RCV000478331]|not specified [RCV001818405] |
Chr16:23635305 [GRCh38]
Chr16:23646626 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000168368]|Hereditary cancer-predisposing syndrome [RCV000575875]|not provided [RCV003228909] |
Chr16:23635059 [GRCh38]
Chr16:23646380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3351-?_*(1_?)del |
deletion |
Familial cancer of breast [RCV000168419] |
Chr16:23603458..23603669 [GRCh38]
Chr16:23614779..23614990 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000168425]|Familial cancer of breast [RCV000765277]|Hereditary cancer-predisposing syndrome [RCV000774638] |
Chr16:23635431 [GRCh38]
Chr16:23646752 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315417]|Familial cancer of breast [RCV000168443]|Familial cancer of breast [RCV002492681]|Fanconi anemia complementation group N [RCV000282581]|Hereditary cancer-predisposing syndrome [RCV000220514]|not provided [RCV000483896]|not specified [RCV003114319] |
Chr16:23623069 [GRCh38]
Chr16:23634390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.3495T>G |
single nucleotide variant |
Familial cancer of breast [RCV000211056] |
Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150103]|Chordoma [RCV002266935]|Familial cancer of breast [RCV000211057]|Hereditary cancer-predisposing syndrome [RCV000454132]|not provided [RCV000478723]|not specified [RCV002465567] |
Chr16:23624088 [GRCh38]
Chr16:23635409 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3366C>A (p.Asp1122Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000211062] |
Chr16:23603654 [GRCh38]
Chr16:23614975 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2606C>G (p.Ser869Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000211067]|Hereditary cancer-predisposing syndrome [RCV000574296]|not provided [RCV000484494] |
Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1194G>T (p.Val398=) |
single nucleotide variant |
Familial cancer of breast [RCV000211072]|Hereditary cancer-predisposing syndrome [RCV002336588] |
Chr16:23635352 [GRCh38]
Chr16:23646673 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000211081]|Hereditary cancer-predisposing syndrome [RCV000217376]|Pilocytic astrocytoma [RCV000761143]|not provided [RCV001582721] |
Chr16:23635068 [GRCh38]
Chr16:23646389 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2328C>T (p.Phe776=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316170]|Familial cancer of breast [RCV000211085]|Hereditary cancer-predisposing syndrome [RCV000223186]|not provided [RCV001723789]|not specified [RCV000442137] |
Chr16:23629826 [GRCh38]
Chr16:23641147 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs) |
duplication |
Familial cancer of breast [RCV000211063] |
Chr16:23630187..23630188 [GRCh38]
Chr16:23641508..23641509 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.522_523del (p.Arg175fs) |
deletion |
Familial cancer of breast [RCV000211064] |
Chr16:23636023..23636024 [GRCh38]
Chr16:23647344..23647345 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1085T>C (p.Leu362Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000211066] |
Chr16:23635461 [GRCh38]
Chr16:23646782 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2484C>T (p.Cys828=) |
single nucleotide variant |
Familial cancer of breast [RCV000211068]|Hereditary cancer-predisposing syndrome [RCV002426987]|not specified [RCV001030310] |
Chr16:23629670 [GRCh38]
Chr16:23640991 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3294G>A (p.Lys1098=) |
single nucleotide variant |
Familial cancer of breast [RCV000211069] |
Chr16:23607920 [GRCh38]
Chr16:23619241 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2597G>T (p.Gly866Val) |
single nucleotide variant |
Familial cancer of breast [RCV000167868]|Hereditary cancer-predisposing syndrome [RCV000579819] |
Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.85A>G (p.Ser29Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000167900]|Hereditary cancer-predisposing syndrome [RCV000217631]|not provided [RCV002262763] |
Chr16:23638093 [GRCh38]
Chr16:23649414 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.3(PALB2):c.3114-?_3350+?del |
deletion |
Familial cancer of breast [RCV000167940] |
Chr16:23607864..23614091 [GRCh38]
Chr16:23619185..23625412 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) |
single nucleotide variant |
Familial cancer of breast [RCV000167944]|Familial cancer of breast [RCV000765276]|Hereditary cancer-predisposing syndrome [RCV000565232]|not provided [RCV000588409]|not specified [RCV001818401] |
Chr16:23635230 [GRCh38]
Chr16:23646551 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000167975]|Hereditary cancer-predisposing syndrome [RCV000774639] |
Chr16:23635450 [GRCh38]
Chr16:23646771 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) |
single nucleotide variant |
Carcinoma of colon [RCV001030381]|Familial cancer of breast [RCV000168000]|Familial cancer of breast [RCV002485044]|Hereditary cancer-predisposing syndrome [RCV000216674]|not provided [RCV000479177]|not specified [RCV001731498] |
Chr16:23621369 [GRCh38]
Chr16:23632690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000168057]|Hereditary cancer-predisposing syndrome [RCV000454148]|PALB2-related disorder [RCV004528920]|not provided [RCV000255033] |
Chr16:23623131 [GRCh38]
Chr16:23634452 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs) |
deletion |
Familial cancer of breast [RCV000168075] |
Chr16:23623042..23623045 [GRCh38]
Chr16:23634363..23634366 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) |
insertion |
Familial cancer of breast [RCV000168094]|Hereditary cancer-predisposing syndrome [RCV000564048] |
Chr16:23630187..23630188 [GRCh38]
Chr16:23641508..23641509 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.301G>C (p.Asp101His) |
single nucleotide variant |
Familial cancer of breast [RCV001234794]|Hereditary cancer-predisposing syndrome [RCV001018073]|not provided [RCV000178364] |
Chr16:23636245 [GRCh38]
Chr16:23647566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2505C>T (p.Ser835=) |
single nucleotide variant |
Familial cancer of breast [RCV001085109]|Hereditary cancer-predisposing syndrome [RCV000575425]|Malignant tumor of breast [RCV001354928]|not provided [RCV000724499]|not specified [RCV003321538] |
Chr16:23629649 [GRCh38]
Chr16:23640970 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000195423]|Hereditary cancer-predisposing syndrome [RCV000562225]|not provided [RCV003223619] |
Chr16:23630014 [GRCh38]
Chr16:23641335 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) |
single nucleotide variant |
Familial cancer of breast [RCV000195715]|Familial cancer of breast [RCV002492923]|Hereditary cancer-predisposing syndrome [RCV000216876]|not provided [RCV000478251]|not specified [RCV001251265] |
Chr16:23603482 [GRCh38]
Chr16:23614803 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1792C>T (p.Leu598=) |
single nucleotide variant |
Familial cancer of breast [RCV000195746]|Hereditary cancer-predisposing syndrome [RCV000581753]|not provided [RCV001722110]|not specified [RCV000445227] |
Chr16:23630362 [GRCh38]
Chr16:23641683 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2506G>T (p.Val836Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000195841]|Hereditary cancer-predisposing syndrome [RCV000584448]|not provided [RCV001030312] |
Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000196033]|Hereditary cancer-predisposing syndrome [RCV001019497] |
Chr16:23607954 [GRCh38]
Chr16:23619275 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2178T>C (p.Pro726=) |
single nucleotide variant |
Familial cancer of breast [RCV000196097]|Hereditary cancer-predisposing syndrome [RCV000568234]|not provided [RCV000841381] |
Chr16:23629976 [GRCh38]
Chr16:23641297 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.511T>A (p.Leu171Met) |
single nucleotide variant |
Familial cancer of breast [RCV000196309] |
Chr16:23636035 [GRCh38]
Chr16:23647356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3114-?_3201+?dup88 |
duplication |
Familial cancer of breast [RCV000196349] |
Chr16:23614004..23614091 [GRCh38]
Chr16:23625325..23625412 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.753G>C (p.Gln251His) |
single nucleotide variant |
Familial cancer of breast [RCV000196503] |
Chr16:23635793 [GRCh38]
Chr16:23647114 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2640C>T (p.Ala880=) |
single nucleotide variant |
Familial cancer of breast [RCV000196557]|Hereditary cancer-predisposing syndrome [RCV000575506] |
Chr16:23626344 [GRCh38]
Chr16:23637665 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000196709]|Hereditary cancer-predisposing syndrome [RCV000570793]|PALB2-related disorder [RCV004739590]|not provided [RCV000480147]|not specified [RCV004689672] |
Chr16:23635617 [GRCh38]
Chr16:23646938 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) |
single nucleotide variant |
Chordoma [RCV002266931]|Familial cancer of breast [RCV000196785]|Hereditary cancer-predisposing syndrome [RCV000220160]|not provided [RCV001797063] |
Chr16:23621372 [GRCh38]
Chr16:23632693 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.351T>C (p.Pro117=) |
single nucleotide variant |
Familial cancer of breast [RCV001083303]|Hereditary cancer-predisposing syndrome [RCV000566532]|not provided [RCV000679772]|not specified [RCV003323450] |
Chr16:23636195 [GRCh38]
Chr16:23647516 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely benign |
| NM_024675.4(PALB2):c.985C>G (p.Leu329Val) |
single nucleotide variant |
Familial cancer of breast [RCV000196873]|not provided [RCV001030192] |
Chr16:23635561 [GRCh38]
Chr16:23646882 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-9C>T |
single nucleotide variant |
Familial cancer of breast [RCV000196913]|Hereditary cancer-predisposing syndrome [RCV000579396]|Pancreatic cancer, susceptibility to, 3 [RCV001354308]|not provided [RCV001711353]|not specified [RCV001818478] |
Chr16:23608021 [GRCh38]
Chr16:23619342 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000196986]|Familial cancer of breast [RCV000764044]|Hereditary cancer-predisposing syndrome [RCV000574156]|See cases [RCV002252054]|not provided [RCV000480697]|not specified [RCV001194139] |
Chr16:23607967 [GRCh38]
Chr16:23619288 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+9del |
deletion |
Familial cancer of breast [RCV000197031]|Hereditary cancer-predisposing syndrome [RCV000580718]|Malignant tumor of breast [RCV001354543]|PALB2-related disorder [RCV004739585]|not provided [RCV003477663]|not specified [RCV000478607] |
Chr16:23622960 [GRCh38]
Chr16:23634281 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000197340]|Hereditary cancer-predisposing syndrome [RCV000569353]|not provided [RCV001775663] |
Chr16:23629978 [GRCh38]
Chr16:23641299 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) |
single nucleotide variant |
Carcinoma of colon [RCV001030299]|Familial cancer of breast [RCV000197564]|Hereditary cancer-predisposing syndrome [RCV000216753]|not provided [RCV000236931]|not specified [RCV004586620] |
Chr16:23629794 [GRCh38]
Chr16:23641115 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2543A>G (p.Asp848Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000197723] |
Chr16:23629247 [GRCh38]
Chr16:23640568 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.1839G>A (p.Gln613=) |
single nucleotide variant |
Familial cancer of breast [RCV000197939]|Hereditary cancer-predisposing syndrome [RCV000214157]|not specified [RCV000615484] |
Chr16:23630315 [GRCh38]
Chr16:23641636 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2515-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000198016]|Hereditary cancer-predisposing syndrome [RCV000580827]|not provided [RCV000985889] |
Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000198123]|Hereditary cancer-predisposing syndrome [RCV000776376]|not provided [RCV001284322] |
Chr16:23603572 [GRCh38]
Chr16:23614893 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.841A>T (p.Ile281Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000198379]|Hereditary cancer-predisposing syndrome [RCV000454145]|not provided [RCV003114361] |
Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2935A>C (p.Ser979Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000198507] |
Chr16:23623030 [GRCh38]
Chr16:23634351 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2763G>C (p.Gln921His) |
single nucleotide variant |
Familial cancer of breast [RCV000198606] |
Chr16:23624080 [GRCh38]
Chr16:23635401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-9T>C |
single nucleotide variant |
Familial cancer of breast [RCV001450160]|Hereditary cancer-predisposing syndrome [RCV001525968]|not specified [RCV001194136] |
Chr16:23621487 [GRCh38]
Chr16:23632808 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3172T>G (p.Ser1058Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000198725]|Hereditary cancer-predisposing syndrome [RCV002321799] |
Chr16:23614033 [GRCh38]
Chr16:23625354 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+9del |
deletion |
Familial cancer of breast [RCV000198769] |
Chr16:23626227 [GRCh38]
Chr16:23637548 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|likely benign |
| NM_024675.4(PALB2):c.735G>A (p.Ala245=) |
single nucleotide variant |
Familial cancer of breast [RCV001087862]|Familial cancer of breast [RCV002478701]|Hereditary cancer-predisposing syndrome [RCV000214366]|not provided [RCV000841727] |
Chr16:23635811 [GRCh38]
Chr16:23647132 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|likely benign |
| NM_024675.4(PALB2):c.2470dup (p.Cys824fs) |
duplication |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003224869]|Familial cancer of breast [RCV000199043]|Hereditary cancer-predisposing syndrome [RCV000215206]|not provided [RCV001268661] |
Chr16:23629683..23629684 [GRCh38]
Chr16:23641004..23641005 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1093A>C (p.Arg365=) |
single nucleotide variant |
Familial cancer of breast [RCV000199103]|Hereditary cancer-predisposing syndrome [RCV000571694]|not specified [RCV000419084] |
Chr16:23635453 [GRCh38]
Chr16:23646774 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3473A>G (p.His1158Arg) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798672]|Familial cancer of breast [RCV000199321]|Hereditary cancer-predisposing syndrome [RCV000217762]|PALB2-related disorder [RCV004739589] |
Chr16:23603547 [GRCh38]
Chr16:23614868 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1848T>C (p.Asp616=) |
single nucleotide variant |
Familial cancer of breast [RCV001482291] |
Chr16:23630306 [GRCh38]
Chr16:23641627 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.2587-?_2748+?del |
deletion |
Familial cancer of breast [RCV000199582]|Hereditary cancer-predisposing syndrome [RCV000210086] |
Chr16:23626236..23626397 [GRCh38]
Chr16:23637557..23637718 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.380A>G (p.His127Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000199860]|Hereditary cancer-predisposing syndrome [RCV001804936]|not provided [RCV001030147] |
Chr16:23636166 [GRCh38]
Chr16:23647487 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.3(PALB2):c.3114-?_3201+?del |
deletion |
Familial cancer of breast [RCV000199868] |
Chr16:23614004..23614091 [GRCh38]
Chr16:23625325..23625412 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2229T>C (p.Tyr743=) |
single nucleotide variant |
Familial cancer of breast [RCV000199909]|Hereditary cancer-predisposing syndrome [RCV000219447] |
Chr16:23629925 [GRCh38]
Chr16:23641246 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-10del |
deletion |
Familial cancer of breast [RCV001084305]|Hereditary cancer-predisposing syndrome [RCV000580912]|not provided [RCV000587569]|not specified [RCV001818473] |
Chr16:23636344 [GRCh38]
Chr16:23647665 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150089]|Familial cancer of breast [RCV000200608]|Familial cancer of breast [RCV002503787]|Hereditary cancer-predisposing syndrome [RCV000568710]|not provided [RCV004719744] |
Chr16:23608005 [GRCh38]
Chr16:23619326 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) |
single nucleotide variant |
Familial cancer of breast [RCV000200861]|Familial cancer of breast [RCV002492922]|Hereditary cancer-predisposing syndrome [RCV000562823]|PALB2-related disorder [RCV004530198]|Retinoblastoma [RCV000761148]|not provided [RCV000255070]|not specified [RCV001194137] |
Chr16:23635209 [GRCh38]
Chr16:23646530 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2514+1G>C |
single nucleotide variant |
Familial cancer of breast [RCV001229856]|Hereditary cancer-predisposing syndrome [RCV002429197]|not provided [RCV000255296] |
Chr16:23629639 [GRCh38]
Chr16:23640960 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.33_36dup (p.Glu13Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001180726] |
Chr16:23641121..23641122 [GRCh38]
Chr16:23652442..23652443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1580G>A (p.Cys527Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561219] |
Chr16:23634966 [GRCh38]
Chr16:23646287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.406A>T (p.Ser136Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000542390]|Hereditary cancer-predisposing syndrome [RCV001021800]|not specified [RCV004525963] |
Chr16:23636140 [GRCh38]
Chr16:23647461 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1242A>C (p.Arg414=) |
single nucleotide variant |
Familial cancer of breast [RCV000211070]|Hereditary cancer-predisposing syndrome [RCV000569226]|Malignant tumor of breast [RCV001356016]|not provided [RCV001705186] |
Chr16:23635304 [GRCh38]
Chr16:23646625 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491950]|Familial cancer of breast [RCV000202108]|Fanconi anemia complementation group N [RCV001116750]|Hereditary cancer-predisposing syndrome [RCV000213208]|not provided [RCV000479987]|not specified [RCV001174762] |
Chr16:23621402 [GRCh38]
Chr16:23632723 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2756T>G (p.Val919Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000258956] |
Chr16:23624087 [GRCh38]
Chr16:23635408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000204310]|Familial cancer of breast [RCV002494523]|Hereditary cancer-predisposing syndrome [RCV001010149]|not provided [RCV004767150]|not specified [RCV003488460] |
Chr16:23635368 [GRCh38]
Chr16:23646689 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3114-?_*(1_?)del |
deletion |
Familial cancer of breast [RCV000204353] |
Chr16:23603458..23614091 [GRCh38]
Chr16:23614779..23625412 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.860dup (p.Ser288fs) |
duplication |
Familial cancer of breast [RCV000204478]|Hereditary cancer-predisposing syndrome [RCV001018084]|not provided [RCV002510818] |
Chr16:23635685..23635686 [GRCh38]
Chr16:23647006..23647007 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.93dup (p.Leu32fs) |
duplication |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004597760]|Familial cancer of breast [RCV000204530]|Familial cancer of breast [RCV002485348]|Hereditary cancer-predisposing syndrome [RCV000223136]|Pancreatic cancer, susceptibility to, 3 [RCV002288830]|not provided [RCV000236141] |
Chr16:23638084..23638085 [GRCh38]
Chr16:23649405..23649406 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.398G>T (p.Ser133Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000204748]|Hereditary cancer-predisposing syndrome [RCV000575642] |
Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2031T>C (p.Val677=) |
single nucleotide variant |
Familial cancer of breast [RCV000204811]|Hereditary cancer-predisposing syndrome [RCV000567205]|PALB2-related disorder [RCV004530246]|not provided [RCV001815251]|not specified [RCV000604788] |
Chr16:23630123 [GRCh38]
Chr16:23641444 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000205091]|Hereditary cancer-predisposing syndrome [RCV002390544]|not provided [RCV001030229]|not specified [RCV000780561] |
Chr16:23635089 [GRCh38]
Chr16:23646410 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2899A>C (p.Lys967Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000205092] |
Chr16:23623066 [GRCh38]
Chr16:23634387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.393G>C (p.Arg131Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000205247] |
Chr16:23636153 [GRCh38]
Chr16:23647474 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000205323]|Hereditary cancer-predisposing syndrome [RCV000215139]|not provided [RCV000484020]|not specified [RCV003114369] |
Chr16:23636038 [GRCh38]
Chr16:23647359 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.3(PALB2):c.3202-?_*(1_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000210201] |
Chr16:23603458..23608012 [GRCh38]
Chr16:23614779..23619333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1758T>C (p.Asp586=) |
single nucleotide variant |
Familial cancer of breast [RCV001448243]|Hereditary cancer-predisposing syndrome [RCV001013048]|not specified [RCV003155124] |
Chr16:23630396 [GRCh38]
Chr16:23641717 [GRCh37]
Chr16:16p12.2 |
risk factor|likely benign |
| NM_024675.4(PALB2):c.541G>C (p.Glu181Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000205547]|Familial cancer of breast [RCV002485341]|Hereditary cancer-predisposing syndrome [RCV000774643] |
Chr16:23636005 [GRCh38]
Chr16:23647326 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2469C>G (p.Leu823=) |
single nucleotide variant |
Familial cancer of breast [RCV000205616]|Hereditary cancer-predisposing syndrome [RCV000570985]|PALB2-related disorder [RCV004530233]|not provided [RCV001355858]|not specified [RCV000440482] |
Chr16:23629685 [GRCh38]
Chr16:23641006 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe) |
single nucleotide variant |
Carcinoma of colon [RCV001030379]|Familial cancer of breast [RCV000205673]|Familial cancer of breast [RCV002485342]|Hereditary cancer-predisposing syndrome [RCV000565112]|not provided [RCV003153483] |
Chr16:23621372 [GRCh38]
Chr16:23632693 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1563C>G (p.Thr521=) |
single nucleotide variant |
Familial cancer of breast [RCV000205681]|Hereditary cancer-predisposing syndrome [RCV000563388] |
Chr16:23634983 [GRCh38]
Chr16:23646304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491955]|Familial cancer of breast [RCV000205692]|Hereditary cancer-predisposing syndrome [RCV000221595]|Malignant tumor of breast [RCV001357513]|not provided [RCV000656934]|not specified [RCV000236334] |
Chr16:23637912 [GRCh38]
Chr16:23649233 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000205701]|Hereditary cancer-predisposing syndrome [RCV000220052]|PALB2-related disorder [RCV004541293]|not provided [RCV001559044] |
Chr16:23603647 [GRCh38]
Chr16:23614968 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000205794]|Hereditary cancer-predisposing syndrome [RCV000565663]|not provided [RCV000237061] |
Chr16:23607904 [GRCh38]
Chr16:23619225 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+2T>G |
single nucleotide variant |
Familial cancer of breast [RCV000205865] |
Chr16:23624007 [GRCh38]
Chr16:23635328 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000205952]|Familial cancer of breast [RCV002478727]|Hereditary breast ovarian cancer syndrome [RCV004764779]|Hereditary cancer-predisposing syndrome [RCV000222857]|not provided [RCV000587389]|not specified [RCV001800527] |
Chr16:23607883 [GRCh38]
Chr16:23619204 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3059A>G (p.Gln1020Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000206051]|Hereditary cancer-predisposing syndrome [RCV001018358] |
Chr16:23621416 [GRCh38]
Chr16:23632737 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1794G>A (p.Leu598=) |
single nucleotide variant |
Familial cancer of breast [RCV000206106]|Familial cancer of breast [RCV002500643]|Hereditary cancer-predisposing syndrome [RCV000219903]|PALB2-related disorder [RCV004541287]|not provided [RCV001705169]|not specified [RCV000418143] |
Chr16:23630360 [GRCh38]
Chr16:23641681 [GRCh37]
Chr16:16p12.2 |
pathogenic|benign|likely benign |
| NM_024675.4(PALB2):c.554A>G (p.Lys185Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000206508]|Hereditary cancer-predisposing syndrome [RCV002345740]|not provided [RCV004772866] |
Chr16:23635992 [GRCh38]
Chr16:23647313 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.660T>C (p.Ser220=) |
single nucleotide variant |
Familial cancer of breast [RCV000203679]|Hereditary cancer-predisposing syndrome [RCV000570942]|Malignant tumor of breast [RCV001354997]|not provided [RCV003477705]|not specified [RCV000601651] |
Chr16:23635886 [GRCh38]
Chr16:23647207 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004692825]|Familial cancer of breast [RCV000206656]|not provided [RCV000708617] |
Chr16:23607943 [GRCh38]
Chr16:23619264 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) |
indel |
Familial cancer of breast [RCV000206761]|Hereditary breast ovarian cancer syndrome [RCV000586640]|Hereditary cancer-predisposing syndrome [RCV000217334]|not provided [RCV000507665] |
Chr16:23607925..23607928 [GRCh38]
Chr16:23619246..23619249 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.761C>A (p.Ser254Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000206812]|Hereditary cancer-predisposing syndrome [RCV002390551] |
Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.226A>G (p.Ile76Val) |
single nucleotide variant |
Carcinoma of colon [RCV001030134]|Familial cancer of breast [RCV000203860]|Hereditary cancer-predisposing syndrome [RCV000223229]|not provided [RCV000590079]|not specified [RCV001526861] |
Chr16:23636320 [GRCh38]
Chr16:23647641 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000203889]|Hereditary cancer-predisposing syndrome [RCV000573572]|not provided [RCV000679765] |
Chr16:23629229 [GRCh38]
Chr16:23640550 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1647C>A (p.His549Gln) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798683]|Familial cancer of breast [RCV000203956]|Hereditary cancer-predisposing syndrome [RCV000219639]|not provided [RCV000766620]|not specified [RCV000479905] |
Chr16:23634899 [GRCh38]
Chr16:23646220 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000204029]|Hereditary cancer-predisposing syndrome [RCV000561601]|PALB2-related disorder [RCV004530229]|not provided [RCV000485666]|not specified [RCV002247634] |
Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1805A>T (p.Gln602Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000204088] |
Chr16:23630349 [GRCh38]
Chr16:23641670 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000204129] |
Chr16:23607863 [GRCh38]
Chr16:23619184 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000409735]|Hereditary breast ovarian cancer syndrome [RCV000416712]|Hereditary cancer-predisposing syndrome [RCV000568484]|Malignant tumor of breast [RCV001358472]|not provided [RCV000255651] |
Chr16:23635504 [GRCh38]
Chr16:23646825 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2505C>A (p.Ser835=) |
single nucleotide variant |
Familial cancer of breast [RCV000542987]|Hereditary cancer-predisposing syndrome [RCV003302806] |
Chr16:23629649 [GRCh38]
Chr16:23640970 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1650del (p.Lys550fs) |
deletion |
Familial cancer of breast [RCV003500524]|not provided [RCV000255534] |
Chr16:23634896 [GRCh38]
Chr16:23646217 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.487_488del (p.Val163fs) |
microsatellite |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389468]|Familial cancer of breast [RCV000799725]|Hereditary cancer-predisposing syndrome [RCV000454359]|Pancreatic cancer, susceptibility to, 3 [RCV002272200]|not provided [RCV000255562] |
Chr16:23636058..23636059 [GRCh38]
Chr16:23647379..23647380 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs) |
deletion |
not provided [RCV000255569] |
Chr16:23607913..23607919 [GRCh38]
Chr16:23619234..23619240 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3311G>A (p.Gly1104Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000557463]|Hereditary cancer-predisposing syndrome [RCV000561557] |
Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2719del (p.Glu907fs) |
deletion |
Familial cancer of breast [RCV000811566]|Hereditary cancer-predisposing syndrome [RCV000561628]|not provided [RCV004596270] |
Chr16:23626265 [GRCh38]
Chr16:23637586 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1440del (p.Lys480fs) |
deletion |
Familial cancer of breast [RCV000689768]|Hereditary cancer-predisposing syndrome [RCV000561471] |
Chr16:23635106 [GRCh38]
Chr16:23646427 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2177C>T (p.Pro726Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000544352]|Hereditary cancer-predisposing syndrome [RCV002431575] |
Chr16:23629977 [GRCh38]
Chr16:23641298 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.210A>G (p.Ser70=) |
single nucleotide variant |
Familial cancer of breast [RCV000690592]|Hereditary cancer-predisposing syndrome [RCV000561518] |
Chr16:23637851 [GRCh38]
Chr16:23649172 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000555891]|Hereditary cancer-predisposing syndrome [RCV000563308]|not provided [RCV001545090] |
Chr16:23635075 [GRCh38]
Chr16:23646396 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2784G>A (p.Val928=) |
single nucleotide variant |
Familial cancer of breast [RCV002490997]|Familial cancer of breast [RCV002528334]|Hereditary cancer-predisposing syndrome [RCV001016600]|not provided [RCV000547116] |
Chr16:23624059 [GRCh38]
Chr16:23635380 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2515-3C>T |
single nucleotide variant |
Familial cancer of breast [RCV000543762]|Hereditary cancer-predisposing syndrome [RCV001015746]|not provided [RCV001775854] |
Chr16:23629278 [GRCh38]
Chr16:23640599 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.899C>G (p.Thr300Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562506] |
Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.823A>C (p.Thr275Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562515] |
Chr16:23635723 [GRCh38]
Chr16:23647044 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.371C>A (p.Thr124Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000688473]|Hereditary cancer-predisposing syndrome [RCV000573383]|not provided [RCV000522653] |
Chr16:23636175 [GRCh38]
Chr16:23647496 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000207336]|Familial cancer of breast [RCV002478746]|Hereditary cancer-predisposing syndrome [RCV001524375]|not provided [RCV003477707] |
Chr16:23635048 [GRCh38]
Chr16:23646369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1991T>C (p.Met664Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000547344]|Hereditary cancer-predisposing syndrome [RCV001013948] |
Chr16:23630163 [GRCh38]
Chr16:23641484 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3399T>C (p.Thr1133=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563145] |
Chr16:23603621 [GRCh38]
Chr16:23614942 [GRCh37]
Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207226] |
Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2542G>C (p.Asp848His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000579592] |
Chr16:23629248 [GRCh38]
Chr16:23640569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2500C>T (p.His834Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001853887]|Hereditary cancer-predisposing syndrome [RCV000579392] |
Chr16:23629654 [GRCh38]
Chr16:23640975 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003453539]|Hereditary cancer-predisposing syndrome [RCV002406678]|not provided [RCV000756460] |
Chr16:23630235 [GRCh38]
Chr16:23641556 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup) |
duplication |
Familial cancer of breast [RCV000411049]|Hereditary cancer-predisposing syndrome [RCV000219474] |
Chr16:23635570..23635571 [GRCh38]
Chr16:23646891..23646892 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1035A>C (p.Leu345Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219505] |
Chr16:23635511 [GRCh38]
Chr16:23646832 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) |
microsatellite |
Familial cancer of breast [RCV000817877]|Hereditary cancer-predisposing syndrome [RCV000219523]|Infiltrating duct carcinoma of breast [RCV000677894]|not provided [RCV000985894]|not specified [RCV001175516] |
Chr16:23641119..23641121 [GRCh38]
Chr16:23652440..23652442 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+2T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221819] |
Chr16:23641108 [GRCh38]
Chr16:23652429 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2257C>A (p.Arg753=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221875] |
Chr16:23629897 [GRCh38]
Chr16:23641218 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) |
single nucleotide variant |
Carcinoma of colon [RCV001030360]|Familial cancer of breast [RCV000459925]|Hereditary cancer-predisposing syndrome [RCV000221881]|not provided [RCV000481851]|not specified [RCV001527008] |
Chr16:23622994 [GRCh38]
Chr16:23634315 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2917A>G (p.Thr973Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002518234]|Hereditary cancer-predisposing syndrome [RCV000221884] |
Chr16:23623048 [GRCh38]
Chr16:23634369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2481A>T (p.Thr827=) |
single nucleotide variant |
Familial cancer of breast [RCV000554218]|Hereditary cancer-predisposing syndrome [RCV000221910]|not specified [RCV000427990] |
Chr16:23629673 [GRCh38]
Chr16:23640994 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.115C>T (p.Gln39Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000551161]|Hereditary cancer-predisposing syndrome [RCV000223492] |
Chr16:23637946 [GRCh38]
Chr16:23649267 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001221815]|Hereditary cancer-predisposing syndrome [RCV000223583] |
Chr16:23630046 [GRCh38]
Chr16:23641367 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2787T>C (p.Tyr929=) |
single nucleotide variant |
Familial cancer of breast [RCV001483979]|Hereditary cancer-predisposing syndrome [RCV000215323] |
Chr16:23624056 [GRCh38]
Chr16:23635377 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) |
single nucleotide variant |
Familial cancer of breast [RCV000468846]|Hereditary cancer-predisposing syndrome [RCV000215342]|not provided [RCV001030272]|not specified [RCV004689684] |
Chr16:23630194 [GRCh38]
Chr16:23641515 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.170G>T (p.Cys57Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215387] |
Chr16:23637891 [GRCh38]
Chr16:23649212 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.500_513del (p.Asp167fs) |
deletion |
Familial cancer of breast [RCV001383290]|Hereditary cancer-predisposing syndrome [RCV000217069] |
Chr16:23636033..23636046 [GRCh38]
Chr16:23647354..23647367 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2470del (p.Cys824fs) |
deletion |
Familial cancer of breast [RCV000686532]|Gastric cancer [RCV003165554]|Hereditary cancer-predisposing syndrome [RCV000217072]|not provided [RCV001800544] |
Chr16:23629684 [GRCh38]
Chr16:23641005 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315422]|Familial cancer of breast [RCV000533846]|Hereditary breast ovarian cancer syndrome [RCV002277578]|Hereditary cancer-predisposing syndrome [RCV000217139]|not specified [RCV002271470] |
Chr16:23607864 [GRCh38]
Chr16:23619185 [GRCh37]
Chr16:16p12.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2488del (p.Glu830fs) |
deletion |
Breast and/or ovarian cancer [RCV003150120]|Familial cancer of breast [RCV000635786]|Fanconi anemia complementation group N [RCV001782706]|Hereditary breast ovarian cancer syndrome [RCV004017527]|Hereditary cancer-predisposing syndrome [RCV000217161]|not provided [RCV000478191] |
Chr16:23629666 [GRCh38]
Chr16:23640987 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3027del (p.Glu1010fs) |
deletion |
Familial cancer of breast [RCV000689332]|Hereditary cancer-predisposing syndrome [RCV000217162] |
Chr16:23621448 [GRCh38]
Chr16:23632769 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3377A>C (p.His1126Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000469669]|Hereditary cancer-predisposing syndrome [RCV000217197] |
Chr16:23603643 [GRCh38]
Chr16:23614964 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3306C>T (p.Ser1102=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316205]|Familial cancer of breast [RCV000465602]|Hereditary cancer-predisposing syndrome [RCV000219653]|not provided [RCV003417784]|not specified [RCV001030407] |
Chr16:23607908 [GRCh38]
Chr16:23619229 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001857775]|Hereditary cancer-predisposing syndrome [RCV000219759] |
Chr16:23634973 [GRCh38]
Chr16:23646294 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3471A>T (p.Gln1157His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219777] |
Chr16:23603549 [GRCh38]
Chr16:23614870 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter) |
insertion |
Hereditary cancer-predisposing syndrome [RCV000222029] |
Chr16:23630011..23630012 [GRCh38]
Chr16:23641332..23641333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000472473]|Hereditary cancer-predisposing syndrome [RCV000222033]|not provided [RCV000485885]|not specified [RCV001818541] |
Chr16:23636317 [GRCh38]
Chr16:23647638 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.3(PALB2):c.2966_2967insCAACAAGT (p.Glu990Asnfs) |
insertion |
Familial cancer of breast [RCV000211065] |
Chr16:23622998..23622999 [GRCh38]
Chr16:23634319..23634320 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.577dup (p.Thr193fs) |
duplication |
Familial cancer of breast [RCV000211071] |
Chr16:23635968..23635969 [GRCh38]
Chr16:23647289..23647290 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.693dup (p.Gly232fs) |
duplication |
Familial cancer of breast [RCV000211082]|Hereditary cancer-predisposing syndrome [RCV004020583] |
Chr16:23635852..23635853 [GRCh38]
Chr16:23647173..23647174 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2586G>C (p.Lys862Asn) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150118]|Familial cancer of breast [RCV000635942]|Hereditary cancer-predisposing syndrome [RCV000217255] |
Chr16:23629204 [GRCh38]
Chr16:23640525 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) |
deletion |
Familial cancer of breast [RCV000812433]|Hereditary cancer-predisposing syndrome [RCV000217312]|not provided [RCV003477763] |
Chr16:23603615..23603624 [GRCh38]
Chr16:23614936..23614945 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1638C>T (p.Val546=) |
single nucleotide variant |
Familial cancer of breast [RCV001504109]|Hereditary cancer-predisposing syndrome [RCV000217329]|not specified [RCV000607543] |
Chr16:23634908 [GRCh38]
Chr16:23646229 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001853499]|Hereditary cancer-predisposing syndrome [RCV000222117] |
Chr16:23635168 [GRCh38]
Chr16:23646489 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1830A>G (p.Thr610=) |
single nucleotide variant |
Familial cancer of breast [RCV001457806]|Hereditary cancer-predisposing syndrome [RCV000222133]|not specified [RCV001192767] |
Chr16:23630324 [GRCh38]
Chr16:23641645 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001064019]|Hereditary cancer-predisposing syndrome [RCV000213186] |
Chr16:23626354 [GRCh38]
Chr16:23637675 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2981T>C (p.Phe994Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000556582]|Hereditary cancer-predisposing syndrome [RCV000213191] |
Chr16:23622984 [GRCh38]
Chr16:23634305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.35A>C (p.Glu12Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001204816]|Hereditary cancer-predisposing syndrome [RCV000213226] |
Chr16:23641123 [GRCh38]
Chr16:23652444 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2274C>T (p.Pro758=) |
single nucleotide variant |
Familial cancer of breast [RCV001429014]|Hereditary cancer-predisposing syndrome [RCV000213308]|not provided [RCV001705226] |
Chr16:23629880 [GRCh38]
Chr16:23641201 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2835G>A (p.Arg945=) |
single nucleotide variant |
Familial cancer of breast [RCV001320081]|Hereditary cancer-predisposing syndrome [RCV000217381]|not provided [RCV000483812] |
Chr16:23623130 [GRCh38]
Chr16:23634451 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000691866]|Fanconi anemia complementation group N [RCV001118196]|Hereditary cancer-predisposing syndrome [RCV000217386]|not specified [RCV001818529] |
Chr16:23623116 [GRCh38]
Chr16:23634437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1216del (p.Ala406fs) |
deletion |
Familial cancer of breast [RCV001389702]|Hereditary cancer-predisposing syndrome [RCV000219937] |
Chr16:23635330 [GRCh38]
Chr16:23646651 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3219C>G (p.Val1073=) |
single nucleotide variant |
Familial cancer of breast [RCV000932681]|Hereditary cancer-predisposing syndrome [RCV000219952]|not specified [RCV000422048] |
Chr16:23607995 [GRCh38]
Chr16:23619316 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.308G>A (p.Gly103Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001854715]|Hereditary cancer-predisposing syndrome [RCV000222248] |
Chr16:23636238 [GRCh38]
Chr16:23647559 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001070907]|Hereditary cancer-predisposing syndrome [RCV000222262]|not provided [RCV001030388] |
Chr16:23614091 [GRCh38]
Chr16:23625412 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3078G>A (p.Leu1026=) |
single nucleotide variant |
Familial cancer of breast [RCV001450512]|Hereditary cancer-predisposing syndrome [RCV000562358] |
Chr16:23621397 [GRCh38]
Chr16:23632718 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) |
single nucleotide variant |
Familial cancer of breast [RCV000544190]|Familial cancer of breast [RCV002478799]|Hereditary cancer-predisposing syndrome [RCV000213330]|not provided [RCV000236936]|not specified [RCV002267960] |
Chr16:23622987 [GRCh38]
Chr16:23634308 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635607]|Familial cancer of breast [RCV002478788]|Hereditary cancer-predisposing syndrome [RCV000213341]|not provided [RCV003223625] |
Chr16:23629642 [GRCh38]
Chr16:23640963 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1085T>G (p.Leu362Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000810294]|Hereditary cancer-predisposing syndrome [RCV000213354] |
Chr16:23635461 [GRCh38]
Chr16:23646782 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1925T>C (p.Met642Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607268]|Hereditary cancer-predisposing syndrome [RCV000213359] |
Chr16:23630229 [GRCh38]
Chr16:23641550 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001216363]|Hereditary cancer-predisposing syndrome [RCV000217483] |
Chr16:23621379 [GRCh38]
Chr16:23632700 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) |
insertion |
Familial cancer of breast [RCV003454635]|Hereditary cancer-predisposing syndrome [RCV000217519]|not provided [RCV001284669] |
Chr16:23635120..23635121 [GRCh38]
Chr16:23646441..23646442 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2199T>C (p.Thr733=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217553] |
Chr16:23629955 [GRCh38]
Chr16:23641276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.831C>T (p.Asp277=) |
single nucleotide variant |
Familial cancer of breast [RCV000226682]|Hereditary cancer-predisposing syndrome [RCV000217566]|PALB2-related disorder [RCV004532779]|not provided [RCV000615411]|not specified [RCV001824692] |
Chr16:23635715 [GRCh38]
Chr16:23647036 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2167A>T (p.Met723Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000467128]|Hereditary cancer-predisposing syndrome [RCV000217611]|not provided [RCV003153509] |
Chr16:23629987 [GRCh38]
Chr16:23641308 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001037656]|Fanconi anemia complementation group N [RCV001116858]|Hereditary cancer-predisposing syndrome [RCV000219983] |
Chr16:23635131 [GRCh38]
Chr16:23646452 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.707dup (p.Leu237fs) |
duplication |
Familial cancer of breast [RCV000685002]|Hereditary cancer-predisposing syndrome [RCV000219994]|not provided [RCV000344893] |
Chr16:23635838..23635839 [GRCh38]
Chr16:23647159..23647160 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3089C>T (p.Thr1030Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001222271]|Hereditary breast ovarian cancer syndrome [RCV000675186]|Hereditary cancer-predisposing syndrome [RCV000220028]|not provided [RCV000236606] |
Chr16:23621386 [GRCh38]
Chr16:23632707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.194C>G (p.Pro65Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000558261]|Hereditary cancer-predisposing syndrome [RCV000213510] |
Chr16:23637867 [GRCh38]
Chr16:23649188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2690T>G (p.Leu897Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213587] |
Chr16:23626294 [GRCh38]
Chr16:23637615 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.38A>G (p.Glu13Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213589] |
Chr16:23641120 [GRCh38]
Chr16:23652441 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.658del (p.Ser220fs) |
deletion |
Familial cancer of breast [RCV000810472]|Hereditary cancer-predisposing syndrome [RCV000217719]|not provided [RCV000657496] |
Chr16:23635888 [GRCh38]
Chr16:23647209 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1020T>C (p.Asn340=) |
single nucleotide variant |
Familial cancer of breast [RCV000475868]|Hereditary cancer-predisposing syndrome [RCV000220055]|PALB2-related disorder [RCV004541354] |
Chr16:23635526 [GRCh38]
Chr16:23646847 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001053537]|Hereditary cancer-predisposing syndrome [RCV000565852]|not provided [RCV001584375] |
Chr16:23634886 [GRCh38]
Chr16:23646207 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) |
deletion |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004558531]|Familial cancer of breast [RCV000467619]|Hereditary cancer-predisposing syndrome [RCV000213608]|Pancreatic cancer, susceptibility to, 3 [RCV001357568]|not provided [RCV000235354] |
Chr16:23629863..23629866 [GRCh38]
Chr16:23641184..23641187 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2628T>G (p.Phe876Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213757] |
Chr16:23626356 [GRCh38]
Chr16:23637677 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.826C>T (p.His276Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000544750]|Hereditary cancer-predisposing syndrome [RCV000215431] |
Chr16:23635720 [GRCh38]
Chr16:23647041 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001053807]|Familial cancer of breast [RCV002485422]|Hereditary cancer-predisposing syndrome [RCV000215445] |
Chr16:23630058 [GRCh38]
Chr16:23641379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.27C>G (p.Leu9=) |
single nucleotide variant |
Familial cancer of breast [RCV001409240]|Hereditary cancer-predisposing syndrome [RCV000215451]|not specified [RCV000420697] |
Chr16:23641131 [GRCh38]
Chr16:23652452 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000686283]|Hereditary cancer-predisposing syndrome [RCV000215508]|not provided [RCV000759188] |
Chr16:23603608 [GRCh38]
Chr16:23614929 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000822894]|Hereditary cancer-predisposing syndrome [RCV000217867]|not provided [RCV000483996]|not specified [RCV002267968] |
Chr16:23603545 [GRCh38]
Chr16:23614866 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000464403]|Hereditary cancer-predisposing syndrome [RCV000217898]|Pancreatic cancer, susceptibility to, 3 [RCV001030256]|not provided [RCV000985887] |
Chr16:23630422 [GRCh38]
Chr16:23641743 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1767G>A (p.Thr589=) |
single nucleotide variant |
Familial cancer of breast [RCV000457514]|Fanconi anemia complementation group N [RCV001121719]|Hereditary cancer-predisposing syndrome [RCV000217926]|PALB2-related disorder [RCV004532777]|not provided [RCV002478785]|not specified [RCV000436798] |
Chr16:23630387 [GRCh38]
Chr16:23641708 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.844A>G (p.Arg282Gly) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491976]|Familial cancer of breast [RCV000462094]|Hereditary cancer-predisposing syndrome [RCV000220267]|not provided [RCV000759905] |
Chr16:23635702 [GRCh38]
Chr16:23647023 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.955T>C (p.Ser319Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000542010] |
Chr16:23635591 [GRCh38]
Chr16:23646912 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) |
single nucleotide variant |
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) [RCV000761094]|Familial cancer of breast [RCV000687946]|Familial cancer of breast [RCV002494591]|Hereditary cancer-predisposing syndrome [RCV000215537] |
Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000229527]|Hereditary cancer-predisposing syndrome [RCV000215576]|not provided [RCV000590765] |
Chr16:23603628 [GRCh38]
Chr16:23614949 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.140C>A (p.Ser47Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003765422]|Hereditary cancer-predisposing syndrome [RCV000215607] |
Chr16:23637921 [GRCh38]
Chr16:23649242 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.583A>G (p.Ile195Val) |
single nucleotide variant |
Familial cancer of breast [RCV001234307]|Hereditary cancer-predisposing syndrome [RCV000215618]|not provided [RCV001030160] |
Chr16:23635963 [GRCh38]
Chr16:23647284 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3095T>G (p.Met1032Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000696228]|Hereditary cancer-predisposing syndrome [RCV000215619]|Malignant tumor of breast [RCV001357160] |
Chr16:23621380 [GRCh38]
Chr16:23632701 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003454620]|Hereditary cancer-predisposing syndrome [RCV000215626] |
Chr16:23603662 [GRCh38]
Chr16:23614983 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.773G>A (p.Ser258Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000635854]|Hereditary cancer-predisposing syndrome [RCV000215658]|not provided [RCV002485415] |
Chr16:23635773 [GRCh38]
Chr16:23647094 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2032C>T (p.Leu678=) |
single nucleotide variant |
Familial cancer of breast [RCV001086211]|Familial cancer of breast [RCV002485421]|Hereditary cancer-predisposing syndrome [RCV000215668]|not provided [RCV000842681] |
Chr16:23630122 [GRCh38]
Chr16:23641443 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.15C>T (p.Pro5=) |
single nucleotide variant |
Familial cancer of breast [RCV000876409]|Hereditary cancer-predisposing syndrome [RCV000217958]|not provided [RCV001610533] |
Chr16:23641143 [GRCh38]
Chr16:23652464 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001045962]|Hereditary cancer-predisposing syndrome [RCV000217992] |
Chr16:23626310 [GRCh38]
Chr16:23637631 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000466160]|Familial cancer of breast [RCV002494599]|Hereditary cancer-predisposing syndrome [RCV000220349]|not provided [RCV000235363] |
Chr16:23635474 [GRCh38]
Chr16:23646795 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2635del (p.Arg879fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000215674] |
Chr16:23626349 [GRCh38]
Chr16:23637670 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1392G>A (p.Arg464=) |
single nucleotide variant |
Familial cancer of breast [RCV001467864]|Hereditary cancer-predisposing syndrome [RCV000215687] |
Chr16:23635154 [GRCh38]
Chr16:23646475 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000811638]|Hereditary cancer-predisposing syndrome [RCV000215703]|not provided [RCV001570464] |
Chr16:23635090 [GRCh38]
Chr16:23646411 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.693A>T (p.Lys231Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000474743]|Hereditary cancer-predisposing syndrome [RCV000215723]|not provided [RCV003226913] |
Chr16:23635853 [GRCh38]
Chr16:23647174 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000802184]|Hereditary cancer-predisposing syndrome [RCV000215738] |
Chr16:23603476 [GRCh38]
Chr16:23614797 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635843]|Hereditary cancer-predisposing syndrome [RCV000215749]|not specified [RCV002247661] |
Chr16:23629706 [GRCh38]
Chr16:23641027 [GRCh37]
Chr16:16p12.2 |
benign|uncertain significance |
| NM_024675.4(PALB2):c.2112T>A (p.Leu704=) |
single nucleotide variant |
Familial cancer of breast [RCV000466956]|Hereditary cancer-predisposing syndrome [RCV000215772]|not provided [RCV001574258] |
Chr16:23630042 [GRCh38]
Chr16:23641363 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.39G>A (p.Glu13=) |
single nucleotide variant |
Familial cancer of breast [RCV001444465]|Hereditary cancer-predisposing syndrome [RCV000218102] |
Chr16:23641119 [GRCh38]
Chr16:23652440 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.263T>C (p.Leu88Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003765434]|Hereditary cancer-predisposing syndrome [RCV000222343] |
Chr16:23636283 [GRCh38]
Chr16:23647604 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1704A>C (p.Gln568His) |
single nucleotide variant |
Familial cancer of breast [RCV000458896]|Hereditary cancer-predisposing syndrome [RCV000222348] |
Chr16:23630450 [GRCh38]
Chr16:23641771 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.712A>G (p.Arg238Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000692131]|Familial cancer of breast [RCV002485431]|Hereditary cancer-predisposing syndrome [RCV000214112]|not provided [RCV001566064] |
Chr16:23635834 [GRCh38]
Chr16:23647155 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000536671]|Hereditary cancer-predisposing syndrome [RCV000214165]|not provided [RCV001753674]|not specified [RCV004526647] |
Chr16:23630460 [GRCh38]
Chr16:23641781 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3261C>T (p.Ser1087=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214201] |
Chr16:23607953 [GRCh38]
Chr16:23619274 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+5G>C |
single nucleotide variant |
Familial cancer of breast [RCV000231026]|Hereditary cancer-predisposing syndrome [RCV000214215]|not provided [RCV000255512] |
Chr16:23621357 [GRCh38]
Chr16:23632678 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1944T>C (p.Leu648=) |
single nucleotide variant |
Familial cancer of breast [RCV000457327]|Hereditary cancer-predisposing syndrome [RCV000215925] |
Chr16:23630210 [GRCh38]
Chr16:23641531 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs) |
deletion |
Familial cancer of breast [RCV003454610]|Hereditary cancer-predisposing syndrome [RCV000215931] |
Chr16:23607967..23607968 [GRCh38]
Chr16:23619288..23619289 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2413G>T (p.Val805Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000697289]|Hereditary cancer-predisposing syndrome [RCV000218274]|not provided [RCV003328568] |
Chr16:23629741 [GRCh38]
Chr16:23641062 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1670T>C (p.Phe557Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218299] |
Chr16:23634876 [GRCh38]
Chr16:23646197 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2609T>C (p.Val870Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001219607]|Hereditary cancer-predisposing syndrome [RCV000218350]|not provided [RCV000480874] |
Chr16:23626375 [GRCh38]
Chr16:23637696 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000526650]|Familial cancer of breast [RCV002485417]|Hereditary cancer-predisposing syndrome [RCV000218372]|not provided [RCV001762473] |
Chr16:23629881 [GRCh38]
Chr16:23641202 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000459883]|Familial cancer of breast [RCV002500734]|Hereditary cancer-predisposing syndrome [RCV000220824]|not provided [RCV000679759] |
Chr16:23635467 [GRCh38]
Chr16:23646788 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3488A>T (p.Lys1163Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214233] |
Chr16:23603532 [GRCh38]
Chr16:23614853 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) |
deletion |
Familial cancer of breast [RCV001384358]|Hereditary cancer-predisposing syndrome [RCV000214247]|not provided [RCV000657478] |
Chr16:23603625..23603646 [GRCh38]
Chr16:23614946..23614967 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.870G>A (p.Glu290=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214277] |
Chr16:23635676 [GRCh38]
Chr16:23646997 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000458608]|Hereditary cancer-predisposing syndrome [RCV000214302]|PALB2-related disorder [RCV004532798]|Papillary thyroid carcinoma [RCV000761167]|not provided [RCV001567281]|not specified [RCV002271471] |
Chr16:23630007 [GRCh38]
Chr16:23641328 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2919A>G (p.Thr973=) |
single nucleotide variant |
Familial cancer of breast [RCV001470201]|Hereditary cancer-predisposing syndrome [RCV000216000] |
Chr16:23623046 [GRCh38]
Chr16:23634367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2667T>A (p.Thr889=) |
single nucleotide variant |
Fanconi anemia complementation group N [RCV001118199]|Hereditary cancer-predisposing syndrome [RCV000216116] |
Chr16:23626317 [GRCh38]
Chr16:23637638 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3111T>C (p.Ile1037=) |
single nucleotide variant |
Familial cancer of breast [RCV001403855]|Hereditary cancer-predisposing syndrome [RCV000218393] |
Chr16:23621364 [GRCh38]
Chr16:23632685 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000531194]|Hereditary cancer-predisposing syndrome [RCV000218423] |
Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1952G>A (p.Gly651Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635716]|Hereditary cancer-predisposing syndrome [RCV000218442] |
Chr16:23630202 [GRCh38]
Chr16:23641523 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2076G>C (p.Gln692His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218446] |
Chr16:23630078 [GRCh38]
Chr16:23641399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) |
microsatellite |
Familial cancer of breast [RCV000229872]|Fanconi anemia complementation group N [RCV001782707]|Hereditary breast ovarian cancer syndrome [RCV002307453]|Hereditary cancer-predisposing syndrome [RCV000218515]|not provided [RCV000236720] |
Chr16:23629742..23629743 [GRCh38]
Chr16:23641063..23641064 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1515C>T (p.Ala505=) |
single nucleotide variant |
Familial cancer of breast [RCV001499661]|Hereditary cancer-predisposing syndrome [RCV000220867] |
Chr16:23635031 [GRCh38]
Chr16:23646352 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) |
single nucleotide variant |
Chordoma [RCV002266936]|Familial cancer of breast [RCV000535759]|Familial cancer of breast [RCV002478804]|Fanconi anemia complementation group N [RCV001121621]|Hereditary cancer-predisposing syndrome [RCV000220953]|not provided [RCV000485944] |
Chr16:23603526 [GRCh38]
Chr16:23614847 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) |
deletion |
Familial cancer of breast [RCV000468711]|Hereditary cancer-predisposing syndrome [RCV000220967]|not provided [RCV000236917] |
Chr16:23629857..23629858 [GRCh38]
Chr16:23641178..23641179 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000704180]|Hereditary cancer-predisposing syndrome [RCV000222569]|not specified [RCV003488479] |
Chr16:23630101 [GRCh38]
Chr16:23641422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001857756]|Hereditary cancer-predisposing syndrome [RCV000222632] |
Chr16:23614040 [GRCh38]
Chr16:23625361 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000559033]|Familial cancer of breast [RCV002485425]|Hereditary cancer-predisposing syndrome [RCV000222668]|not specified [RCV001582753] |
Chr16:23630172 [GRCh38]
Chr16:23641493 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-522T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209151] |
Chr16:23614613 [GRCh38]
Chr16:23625934 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000818865]|Familial cancer of breast [RCV002494593]|Hereditary cancer-predisposing syndrome [RCV000214422]|PALB2-related disorder [RCV004541351]|not specified [RCV004701288] |
Chr16:23630452 [GRCh38]
Chr16:23641773 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2811A>C (p.Gly937=) |
single nucleotide variant |
Familial cancer of breast [RCV001478867]|Hereditary cancer-predisposing syndrome [RCV000214425] |
Chr16:23624032 [GRCh38]
Chr16:23635353 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.663A>G (p.Val221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216157] |
Chr16:23635883 [GRCh38]
Chr16:23647204 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2873A>C (p.Gln958Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635913]|Hereditary cancer-predisposing syndrome [RCV000216200] |
Chr16:23623092 [GRCh38]
Chr16:23634413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.135G>A (p.Lys45=) |
single nucleotide variant |
Familial cancer of breast [RCV001500992]|Hereditary cancer-predisposing syndrome [RCV000216258]|not specified [RCV000445169] |
Chr16:23637926 [GRCh38]
Chr16:23649247 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1139G>C (p.Ser380Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218548]|not provided [RCV000479465] |
Chr16:23635407 [GRCh38]
Chr16:23646728 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000466966]|Familial cancer of breast [RCV002500726]|Hereditary cancer-predisposing syndrome [RCV000218610] |
Chr16:23607989 [GRCh38]
Chr16:23619310 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1346A>T (p.Lys449Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218614] |
Chr16:23635200 [GRCh38]
Chr16:23646521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1238C>A (p.Thr413Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218626] |
Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+4C>T |
single nucleotide variant |
Familial cancer of breast [RCV000635739]|Hereditary cancer-predisposing syndrome [RCV000218641] |
Chr16:23641106 [GRCh38]
Chr16:23652427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1814C>T (p.Ser605Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000794879]|Hereditary cancer-predisposing syndrome [RCV000218680]|not provided [RCV004767171] |
Chr16:23630340 [GRCh38]
Chr16:23641661 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1206del (p.Leu403fs) |
deletion |
Familial cancer of breast [RCV001030203]|Gastric cancer [RCV003165555]|Hereditary cancer-predisposing syndrome [RCV000218688] |
Chr16:23635340 [GRCh38]
Chr16:23646661 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2325dup (p.Phe776fs) |
duplication |
Breast and/or ovarian cancer [RCV001798719]|Familial cancer of breast [RCV000468481]|Hereditary cancer-predisposing syndrome [RCV000218689]|PALB2-related disorder [RCV004532801]|not provided [RCV000236131] |
Chr16:23629828..23629829 [GRCh38]
Chr16:23641149..23641150 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000797707]|Hereditary cancer-predisposing syndrome [RCV000221085] |
Chr16:23629650 [GRCh38]
Chr16:23640971 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002519710]|Hereditary cancer-predisposing syndrome [RCV000222826]|not provided [RCV001030159] |
Chr16:23635968 [GRCh38]
Chr16:23647289 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+398A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209187] |
Chr16:23640712 [GRCh38]
Chr16:23652033 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+1290C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209482] |
Chr16:23633572 [GRCh38]
Chr16:23644893 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+3A>G |
single nucleotide variant |
Familial cancer of breast [RCV003114389]|Hereditary cancer-predisposing syndrome [RCV000214540]|Malignant tumor of breast [RCV001356342]|not provided [RCV001797070] |
Chr16:23622966 [GRCh38]
Chr16:23634287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1263G>A (p.Arg421=) |
single nucleotide variant |
Familial cancer of breast [RCV001493688]|Hereditary cancer-predisposing syndrome [RCV000214557] |
Chr16:23635283 [GRCh38]
Chr16:23646604 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2156del (p.Pro719fs) |
deletion |
Familial cancer of breast [RCV000663079]|Hereditary cancer-predisposing syndrome [RCV000216333] |
Chr16:23629998 [GRCh38]
Chr16:23641319 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.908T>C (p.Leu303Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000822728]|Hereditary cancer-predisposing syndrome [RCV000216402]|not provided [RCV001284671] |
Chr16:23635638 [GRCh38]
Chr16:23646959 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.595C>T (p.Leu199Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003765443]|Hereditary cancer-predisposing syndrome [RCV000216403] |
Chr16:23635951 [GRCh38]
Chr16:23647272 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3027T>C (p.Pro1009=) |
single nucleotide variant |
Familial cancer of breast [RCV001397966]|Hereditary cancer-predisposing syndrome [RCV000216427]|not specified [RCV000616466] |
Chr16:23621448 [GRCh38]
Chr16:23632769 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+3A>C |
single nucleotide variant |
Familial cancer of breast [RCV001853618]|Hereditary cancer-predisposing syndrome [RCV000216437] |
Chr16:23614001 [GRCh38]
Chr16:23625322 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000216440] |
Chr16:23629650..23629672 [GRCh38]
Chr16:23640971..23640993 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3210C>G (p.Leu1070=) |
single nucleotide variant |
Familial cancer of breast [RCV001493013]|Hereditary cancer-predisposing syndrome [RCV000218741]|not provided [RCV000228470] |
Chr16:23608004 [GRCh38]
Chr16:23619325 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.35del (p.Glu12fs) |
deletion |
Familial cancer of breast [RCV000803336]|Hereditary cancer-predisposing syndrome [RCV000218745] |
Chr16:23641123 [GRCh38]
Chr16:23652444 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000538187]|Hereditary cancer-predisposing syndrome [RCV000218759] |
Chr16:23630350 [GRCh38]
Chr16:23641671 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635882]|Familial cancer of breast [RCV002478798]|Hereditary cancer-predisposing syndrome [RCV000221223]|not specified [RCV002509316] |
Chr16:23630236 [GRCh38]
Chr16:23641557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2325A>C (p.Gln775His) |
single nucleotide variant |
Familial cancer of breast [RCV000231589]|Hereditary cancer-predisposing syndrome [RCV000221269]|not specified [RCV002267954] |
Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.745_749del (p.Pro249fs) |
deletion |
Gastric cancer [RCV003165565]|Hereditary cancer-predisposing syndrome [RCV000222919] |
Chr16:23635797..23635801 [GRCh38]
Chr16:23647118..23647122 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2515-39A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209505] |
Chr16:23629314 [GRCh38]
Chr16:23640635 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser) |
single nucleotide variant |
Carcinoma of colon [RCV001030400]|Familial cancer of breast [RCV000530258]|Hereditary cancer-predisposing syndrome [RCV000214649]|not provided [RCV001788088]|not specified [RCV003230458] |
Chr16:23607982 [GRCh38]
Chr16:23619303 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2167A>G (p.Met723Val) |
single nucleotide variant |
Familial cancer of breast [RCV001350792]|Hereditary cancer-predisposing syndrome [RCV000214669] |
Chr16:23629987 [GRCh38]
Chr16:23641308 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001798715]|Familial cancer of breast [RCV000558947]|Hereditary cancer-predisposing syndrome [RCV000214675]|not provided [RCV003328567]|not specified [RCV002265691] |
Chr16:23621414 [GRCh38]
Chr16:23632735 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.71T>C (p.Leu24Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000474579]|Hereditary cancer-predisposing syndrome [RCV000214682] |
Chr16:23638107 [GRCh38]
Chr16:23649428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2280del (p.Ala761fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000214754] |
Chr16:23629874 [GRCh38]
Chr16:23641195 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.330A>G (p.Gly110=) |
single nucleotide variant |
Familial cancer of breast [RCV000544506]|Hereditary cancer-predisposing syndrome [RCV000214791]|not specified [RCV003321555] |
Chr16:23636216 [GRCh38]
Chr16:23647537 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.466_467del (p.Ile156fs) |
deletion |
Familial cancer of breast [RCV001045091]|Hereditary cancer-predisposing syndrome [RCV000214798]|not provided [RCV001091642] |
Chr16:23636079..23636080 [GRCh38]
Chr16:23647400..23647401 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001316625]|Hereditary cancer-predisposing syndrome [RCV000214800] |
Chr16:23630410 [GRCh38]
Chr16:23641731 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.512T>G (p.Leu171Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214801] |
Chr16:23636034 [GRCh38]
Chr16:23647355 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2437A>G (p.Ile813Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216460] |
Chr16:23629717 [GRCh38]
Chr16:23641038 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1157C>G (p.Thr386Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635788]|Hereditary cancer-predisposing syndrome [RCV000216492]|not provided [RCV003477772] |
Chr16:23635389 [GRCh38]
Chr16:23646710 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3417T>G (p.Ile1139Met) |
single nucleotide variant |
Familial cancer of breast [RCV000635692]|Hereditary cancer-predisposing syndrome [RCV000216504] |
Chr16:23603603 [GRCh38]
Chr16:23614924 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1902A>G (p.Pro634=) |
single nucleotide variant |
Familial cancer of breast [RCV001439585]|Hereditary cancer-predisposing syndrome [RCV000216555] |
Chr16:23630252 [GRCh38]
Chr16:23641573 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000635734]|Hereditary cancer-predisposing syndrome [RCV000218879] |
Chr16:23634958 [GRCh38]
Chr16:23646279 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.908T>A (p.Leu303His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218945] |
Chr16:23635638 [GRCh38]
Chr16:23646959 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000709748]|Hereditary cancer-predisposing syndrome [RCV000223009]|not provided [RCV003227721] |
Chr16:23636199 [GRCh38]
Chr16:23647520 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2217T>C (p.Pro739=) |
single nucleotide variant |
Familial cancer of breast [RCV001459451]|Hereditary cancer-predisposing syndrome [RCV000223061]|not specified [RCV000430420] |
Chr16:23629937 [GRCh38]
Chr16:23641258 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) |
single nucleotide variant |
Familial cancer of breast [RCV000878248]|Familial cancer of breast [RCV002500737]|Hereditary cancer-predisposing syndrome [RCV000223144] |
Chr16:23608010 [GRCh38]
Chr16:23619331 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+1313G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209812] |
Chr16:23606551 [GRCh38]
Chr16:23617872 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1163del (p.Pro388fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000210113] |
Chr16:23635383 [GRCh38]
Chr16:23646704 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3186del (p.Ala1063fs) |
deletion |
Familial cancer of breast [RCV002517428]|Hereditary cancer-predisposing syndrome [RCV000210123] |
Chr16:23614019 [GRCh38]
Chr16:23625340 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2391del (p.Gln797fs) |
deletion |
Familial cancer of breast [RCV000114525]|Hereditary cancer-predisposing syndrome [RCV000210140] |
Chr16:23629763 [GRCh38]
Chr16:23641084 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000545701]|Hereditary cancer-predisposing syndrome [RCV000214899]|not provided [RCV000479396] |
Chr16:23630235 [GRCh38]
Chr16:23641556 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.619C>T (p.Pro207Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001370562]|Hereditary cancer-predisposing syndrome [RCV000214926] |
Chr16:23635927 [GRCh38]
Chr16:23647248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2904T>C (p.Ala968=) |
single nucleotide variant |
Familial cancer of breast [RCV002054968]|Hereditary cancer-predisposing syndrome [RCV000216640] |
Chr16:23623061 [GRCh38]
Chr16:23634382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000700347]|Hereditary cancer-predisposing syndrome [RCV000216725]|PALB2-related disorder [RCV004545877]|not provided [RCV000235495] |
Chr16:23630307 [GRCh38]
Chr16:23641628 [GRCh37]
Chr16:16p12.2 |
uncertain significance|not provided |
| NM_024675.4(PALB2):c.3453C>G (p.Leu1151=) |
single nucleotide variant |
Familial cancer of breast [RCV000635993]|Hereditary cancer-predisposing syndrome [RCV000219007] |
Chr16:23603567 [GRCh38]
Chr16:23614888 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1653T>C (p.Tyr551=) |
single nucleotide variant |
Familial cancer of breast [RCV001494527]|Hereditary cancer-predisposing syndrome [RCV000219143] |
Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.157GAA[1] (p.Glu54del) |
microsatellite |
Familial cancer of breast [RCV001300672]|Hereditary cancer-predisposing syndrome [RCV000221452] |
Chr16:23637899..23637901 [GRCh38]
Chr16:23649220..23649222 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.459G>A (p.Arg153=) |
single nucleotide variant |
Familial cancer of breast [RCV003607262]|Hereditary cancer-predisposing syndrome [RCV000221463]|not specified [RCV000603082] |
Chr16:23636087 [GRCh38]
Chr16:23647408 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.59A>T (p.Lys20Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221475] |
Chr16:23638119 [GRCh38]
Chr16:23649440 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.947C>T (p.Pro316Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000687299]|Hereditary cancer-predisposing syndrome [RCV000221523] |
Chr16:23635599 [GRCh38]
Chr16:23646920 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) |
single nucleotide variant |
Fanconi anemia complementation group N [RCV003133189]|Hereditary cancer-predisposing syndrome [RCV000221530] |
Chr16:23630236 [GRCh38]
Chr16:23641557 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2117C>T (p.Thr706Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001070685]|Hereditary cancer-predisposing syndrome [RCV000223246] |
Chr16:23630037 [GRCh38]
Chr16:23641358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+136T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209821]|not provided [RCV000836094] |
Chr16:23629504 [GRCh38]
Chr16:23640825 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000457210]|Hereditary cancer-predisposing syndrome [RCV000214970]|not provided [RCV000586837]|not specified [RCV001420721] |
Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000989570]|Familial cancer of breast [RCV001027798]|Familial cancer of breast [RCV003224228]|Hereditary cancer-predisposing syndrome [RCV000214985]|not provided [RCV000589880] |
Chr16:23635006 [GRCh38]
Chr16:23646327 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.154G>A (p.Val52Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215013]|not provided [RCV000482119] |
Chr16:23637907 [GRCh38]
Chr16:23649228 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1771C>G (p.Pro591Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215112] |
Chr16:23630383 [GRCh38]
Chr16:23641704 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1251C>T (p.Ser417=) |
single nucleotide variant |
Familial cancer of breast [RCV002054966]|Hereditary cancer-predisposing syndrome [RCV000216771] |
Chr16:23635295 [GRCh38]
Chr16:23646616 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2850C>T (p.Ser950=) |
single nucleotide variant |
Familial cancer of breast [RCV001426135]|Hereditary cancer-predisposing syndrome [RCV000216811] |
Chr16:23623115 [GRCh38]
Chr16:23634436 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2965G>A (p.Val989Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000233398]|Hereditary cancer-predisposing syndrome [RCV000216882]|not provided [RCV001775679] |
Chr16:23623000 [GRCh38]
Chr16:23634321 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003491974]|Familial cancer of breast [RCV002518293]|Hereditary cancer-predisposing syndrome [RCV000216899]|not provided [RCV000478895] |
Chr16:23626291 [GRCh38]
Chr16:23637612 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000530385]|Hereditary cancer-predisposing syndrome [RCV000216908]|not specified [RCV001175042] |
Chr16:23629672 [GRCh38]
Chr16:23640993 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3035C>G (p.Thr1012Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001294420]|Hereditary cancer-predisposing syndrome [RCV000219169] |
Chr16:23621440 [GRCh38]
Chr16:23632761 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2815T>G (p.Leu939Val) |
single nucleotide variant |
Familial cancer of breast [RCV001323873]|Hereditary cancer-predisposing syndrome [RCV000219174] |
Chr16:23624028 [GRCh38]
Chr16:23635349 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3276C>T (p.Leu1092=) |
single nucleotide variant |
Familial cancer of breast [RCV000876137]|Hereditary cancer-predisposing syndrome [RCV000219218]|PALB2-related disorder [RCV004532774]|not specified [RCV002267953] |
Chr16:23607938 [GRCh38]
Chr16:23619259 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000552379]|Hereditary cancer-predisposing syndrome [RCV000219266] |
Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000219269] |
Chr16:23603543..23603544 [GRCh38]
Chr16:23614864..23614865 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.878G>A (p.Gly293Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001207077]|Hereditary cancer-predisposing syndrome [RCV000219309]|not provided [RCV002285286]|not specified [RCV003330591] |
Chr16:23635668 [GRCh38]
Chr16:23646989 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.22C>G (p.Pro8Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221638] |
Chr16:23641136 [GRCh38]
Chr16:23652457 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2673C>T (p.Cys891=) |
single nucleotide variant |
Familial cancer of breast [RCV000228269]|Hereditary cancer-predisposing syndrome [RCV000223322]|PALB2-related disorder [RCV004532783]|not provided [RCV001722181]|not specified [RCV000599763] |
Chr16:23626311 [GRCh38]
Chr16:23637632 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2760dup (p.Gln921fs) |
duplication |
Familial cancer of breast [RCV003454646]|Hereditary cancer-predisposing syndrome [RCV000223425] |
Chr16:23624082..23624083 [GRCh38]
Chr16:23635403..23635404 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2739C>G (p.His913Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223456] |
Chr16:23626245 [GRCh38]
Chr16:23637566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000704755]|Hereditary cancer-predisposing syndrome [RCV000562114] |
Chr16:23629210 [GRCh38]
Chr16:23640531 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2750T>C (p.Val917Ala) |
single nucleotide variant |
Carcinoma of colon [RCV001358536]|Familial cancer of breast [RCV000533162]|Hereditary cancer-predisposing syndrome [RCV000215127] |
Chr16:23624093 [GRCh38]
Chr16:23635414 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.902A>G (p.Asp301Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000461086]|Hereditary cancer-predisposing syndrome [RCV000215213]|Pancreatic cancer, susceptibility to, 3 [RCV001354911]|not provided [RCV000478906] |
Chr16:23635644 [GRCh38]
Chr16:23646965 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.*4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216933] |
Chr16:23603455 [GRCh38]
Chr16:23614776 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635910]|Familial cancer of breast [RCV002500733]|Hereditary cancer-predisposing syndrome [RCV000217002]|not provided [RCV000759904]|not specified [RCV001358719] |
Chr16:23641129 [GRCh38]
Chr16:23652450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002515654]|Hereditary cancer-predisposing syndrome [RCV000217010]|not specified [RCV001420922] |
Chr16:23621434 [GRCh38]
Chr16:23632755 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635714]|Hereditary cancer-predisposing syndrome [RCV000217062]|not provided [RCV001589150]|not specified [RCV002247653] |
Chr16:23629751 [GRCh38]
Chr16:23641072 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.541G>T (p.Glu181Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001060848]|Hereditary cancer-predisposing syndrome [RCV000219378] |
Chr16:23636005 [GRCh38]
Chr16:23647326 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) |
single nucleotide variant |
Breast neoplasm [RCV000504617]|Familial cancer of breast [RCV000635907]|Hereditary cancer-predisposing syndrome [RCV000219424]|not provided [RCV000657700] |
Chr16:23622997 [GRCh38]
Chr16:23634318 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.474G>A (p.Gln158=) |
single nucleotide variant |
Familial cancer of breast [RCV001470966]|Hereditary cancer-predisposing syndrome [RCV002338758] |
Chr16:23636072 [GRCh38]
Chr16:23647393 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-3C>T |
single nucleotide variant |
Familial cancer of breast [RCV000228404]|Hereditary cancer-predisposing syndrome [RCV000569563] |
Chr16:23636337 [GRCh38]
Chr16:23647658 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1422T>G (p.Ser474Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000228498] |
Chr16:23635124 [GRCh38]
Chr16:23646445 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000230496]|Hereditary cancer-predisposing syndrome [RCV002436040] |
Chr16:23641156 [GRCh38]
Chr16:23652477 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val) |
single nucleotide variant |
Familial cancer of breast [RCV000228942]|Hereditary cancer-predisposing syndrome [RCV001019995]|not specified [RCV003323472] |
Chr16:23607886 [GRCh38]
Chr16:23619207 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000229185]|Familial cancer of breast [RCV002494663]|Hereditary cancer-predisposing syndrome [RCV000564890]|not provided [RCV000587839] |
Chr16:23623125 [GRCh38]
Chr16:23634446 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.907C>G (p.Leu303Val) |
single nucleotide variant |
Familial cancer of breast [RCV000231531] |
Chr16:23635639 [GRCh38]
Chr16:23646960 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3351-?_*297del |
deletion |
Familial cancer of breast [RCV000231706] |
Chr16:23603162..23603669 [GRCh38]
Chr16:23614483..23614990 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2964A>G (p.Gln988=) |
single nucleotide variant |
Familial cancer of breast [RCV000229549]|Hereditary cancer-predisposing syndrome [RCV000563128]|PALB2-related disorder [RCV004725117]|not provided [RCV000759903]|not specified [RCV001192741] |
Chr16:23623001 [GRCh38]
Chr16:23634322 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000230011]|Hereditary cancer-predisposing syndrome [RCV000580968]|not provided [RCV003151762]|not specified [RCV000781690] |
Chr16:23635078 [GRCh38]
Chr16:23646399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2508C>T (p.Val836=) |
single nucleotide variant |
Familial cancer of breast [RCV000230223]|Hereditary cancer-predisposing syndrome [RCV000567967]|PALB2-related disorder [RCV004541456]|not specified [RCV001030313] |
Chr16:23629646 [GRCh38]
Chr16:23640967 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2881C>A (p.Leu961Met) |
single nucleotide variant |
Familial cancer of breast [RCV000232469]|Hereditary cancer-predisposing syndrome [RCV000563083]|not provided [RCV003480566] |
Chr16:23623084 [GRCh38]
Chr16:23634405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2067G>T (p.Ser689=) |
single nucleotide variant |
Familial cancer of breast [RCV000230721]|Hereditary cancer-predisposing syndrome [RCV000564587]|not provided [RCV001711642] |
Chr16:23630087 [GRCh38]
Chr16:23641408 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.48+7G>C |
single nucleotide variant |
Familial cancer of breast [RCV000230746]|Hereditary cancer-predisposing syndrome [RCV000580140]|PALB2-related disorder [RCV004541457]|not provided [RCV000586925]|not specified [RCV000433452] |
Chr16:23641103 [GRCh38]
Chr16:23652424 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3553T>C (p.Tyr1185His) |
single nucleotide variant |
Familial cancer of breast [RCV000230845]|Hereditary cancer-predisposing syndrome [RCV001178373] |
Chr16:23603467 [GRCh38]
Chr16:23614788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.-200_*297dup4058 |
duplication |
Familial cancer of breast [RCV000232927] |
Chr16:23603162..23641357 [GRCh38]
Chr16:23614483..23652678 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000230943]|Hereditary cancer [RCV003492015]|Hereditary cancer-predisposing syndrome [RCV000709387]|not provided [RCV000985884] |
Chr16:23635320 [GRCh38]
Chr16:23646641 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2624T>C (p.Met875Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000231157]|Hereditary cancer-predisposing syndrome [RCV004649110]|not specified [RCV000780566] |
Chr16:23626360 [GRCh38]
Chr16:23637681 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000226177]|Familial cancer of breast [RCV002487087]|Hereditary cancer-predisposing syndrome [RCV000564692]|not provided [RCV000589383] |
Chr16:23635083 [GRCh38]
Chr16:23646404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.288A>C (p.Thr96=) |
single nucleotide variant |
Familial cancer of breast [RCV000226308]|Hereditary cancer-predisposing syndrome [RCV000567712]|not specified [RCV000439616] |
Chr16:23636258 [GRCh38]
Chr16:23647579 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2928G>A (p.Arg976=) |
single nucleotide variant |
Familial cancer of breast [RCV001464805]|not specified [RCV000607008] |
Chr16:23623037 [GRCh38]
Chr16:23634358 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2801_2803dup (p.Val934dup) |
duplication |
Familial cancer of breast [RCV000231506] |
Chr16:23624039..23624040 [GRCh38]
Chr16:23635360..23635361 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000231797]|Hereditary cancer-predisposing syndrome [RCV000582525]|not provided [RCV000657770] |
Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000231944] |
Chr16:23635177 [GRCh38]
Chr16:23646498 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000226341]|Hereditary cancer-predisposing syndrome [RCV000574799]|not provided [RCV001800599] |
Chr16:23623129 [GRCh38]
Chr16:23634450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000226507]|Hereditary cancer-predisposing syndrome [RCV004020882] |
Chr16:23603600 [GRCh38]
Chr16:23614921 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.991G>C (p.Glu331Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000226576]|Hereditary cancer-predisposing syndrome [RCV000568702] |
Chr16:23635555 [GRCh38]
Chr16:23646876 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1374T>C (p.Thr458=) |
single nucleotide variant |
Familial cancer of breast [RCV001416070]|Hereditary cancer-predisposing syndrome [RCV001011251] |
Chr16:23635172 [GRCh38]
Chr16:23646493 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1455T>G (p.Thr485=) |
single nucleotide variant |
Familial cancer of breast [RCV000232336]|Familial cancer of breast [RCV002500814]|Hereditary cancer-predisposing syndrome [RCV000574541]|not provided [RCV001697592]|not specified [RCV000438747] |
Chr16:23635091 [GRCh38]
Chr16:23646412 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2427A>C (p.Thr809=) |
single nucleotide variant |
Familial cancer of breast [RCV001079062]|Hereditary cancer-predisposing syndrome [RCV000569833]|not provided [RCV000840886] |
Chr16:23629727 [GRCh38]
Chr16:23641048 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3154G>A (p.Asp1052Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000233764]|Hereditary cancer-predisposing syndrome [RCV001188179] |
Chr16:23614051 [GRCh38]
Chr16:23625372 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000233965]|Familial cancer of breast [RCV002487088]|Fanconi anemia complementation group N [RCV001119746]|Hereditary cancer-predisposing syndrome [RCV000569446]|PALB2-related disorder [RCV004739637]|not provided [RCV001566044]|not specified [RCV001820767] |
Chr16:23629953 [GRCh38]
Chr16:23641274 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2058G>T (p.Arg686Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000234183]|Hereditary cancer-predisposing syndrome [RCV000776230]|not provided [RCV000481768] |
Chr16:23630096 [GRCh38]
Chr16:23641417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.365A>G (p.Asp122Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000232654]|Hereditary cancer-predisposing syndrome [RCV001189069]|not provided [RCV004721317] |
Chr16:23636181 [GRCh38]
Chr16:23647502 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.170G>A (p.Cys57Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000232697]|Hereditary cancer-predisposing syndrome [RCV001184078] |
Chr16:23637891 [GRCh38]
Chr16:23649212 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000234617]|Hereditary cancer-predisposing syndrome [RCV003352808] |
Chr16:23626390 [GRCh38]
Chr16:23637711 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1910C>T (p.Pro637Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000233232]|Hereditary cancer-predisposing syndrome [RCV001013662]|not provided [RCV003324737] |
Chr16:23630244 [GRCh38]
Chr16:23641565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000227668]|Hereditary cancer-predisposing syndrome [RCV000773064]|not provided [RCV002277593] |
Chr16:23630401 [GRCh38]
Chr16:23641722 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1057A>G (p.Lys353Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000227723] |
Chr16:23635489 [GRCh38]
Chr16:23646810 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000227927]|Hereditary breast ovarian cancer syndrome [RCV001193462]|Hereditary cancer-predisposing syndrome [RCV000454198]|Pancreatic cancer, susceptibility to, 3 [RCV001030314]|not provided [RCV000235331] |
Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.517G>A (p.Gly173Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000234668]|Hereditary cancer-predisposing syndrome [RCV000573091] |
Chr16:23636029 [GRCh38]
Chr16:23647350 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000233853]|Hereditary cancer-predisposing syndrome [RCV000579478]|not provided [RCV003325474]|not specified [RCV001174956] |
Chr16:23624051 [GRCh38]
Chr16:23635372 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000228021]|Hereditary cancer-predisposing syndrome [RCV000774634]|PALB2-related disorder [RCV004541455]|not provided [RCV001030274] |
Chr16:23630088 [GRCh38]
Chr16:23641409 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1160C>G (p.Ser387Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000228108]|Hereditary cancer-predisposing syndrome [RCV000572350] |
Chr16:23635386 [GRCh38]
Chr16:23646707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2282C>T (p.Ala761Val) |
single nucleotide variant |
Familial cancer of breast [RCV000226043] |
Chr16:23629872 [GRCh38]
Chr16:23641193 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000234440]|Familial cancer of breast [RCV002494662]|Hereditary cancer-predisposing syndrome [RCV000573285]|not provided [RCV004772882]|not specified [RCV000781692] |
Chr16:23626331 [GRCh38]
Chr16:23637652 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3179G>C (p.Cys1060Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000228718] |
Chr16:23614026 [GRCh38]
Chr16:23625347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.871G>A (p.Ala291Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000228762]|Hereditary cancer-predisposing syndrome [RCV000772149]|not specified [RCV003387816] |
Chr16:23635675 [GRCh38]
Chr16:23646996 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000228882]|Familial cancer of breast [RCV002500815]|Fanconi anemia complementation group N [RCV003485568]|Hereditary cancer-predisposing syndrome [RCV000454231]|Lung cancer [RCV002282082]|Malignant tumor of breast [RCV001175093]|PALB2-related disorder [RCV004532964]|not provided [RCV000255635] |
Chr16:23638099 [GRCh38]
Chr16:23649420 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3355C>T (p.Leu1119=) |
single nucleotide variant |
Familial cancer of breast [RCV001438030] |
Chr16:23603665 [GRCh38]
Chr16:23614986 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2079del (p.His693fs) |
deletion |
Familial cancer of breast [RCV000234710] |
Chr16:23630075 [GRCh38]
Chr16:23641396 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1809A>G (p.Leu603=) |
single nucleotide variant |
Familial cancer of breast [RCV000229237]|Hereditary cancer-predisposing syndrome [RCV001013257] |
Chr16:23630345 [GRCh38]
Chr16:23641666 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000229269]|Hereditary cancer-predisposing syndrome [RCV000570086]|not specified [RCV002247680] |
Chr16:23629777 [GRCh38]
Chr16:23641098 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000989565]|Hereditary cancer-predisposing syndrome [RCV000454184]|not provided [RCV000235273]|not specified [RCV001192764] |
Chr16:23630293 [GRCh38]
Chr16:23641614 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.12dup (p.Pro5fs) |
duplication |
Familial cancer of breast [RCV000686286]|Hereditary breast ovarian cancer syndrome [RCV004525908]|Hereditary cancer-predisposing syndrome [RCV001010853]|not provided [RCV000235308] |
Chr16:23641145..23641146 [GRCh38]
Chr16:23652466..23652467 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635929]|Familial cancer of breast [RCV002494681]|Hereditary cancer-predisposing syndrome [RCV000575251]|Malignant tumor of breast [RCV001357974]|not provided [RCV000235316]|not specified [RCV003330604] |
Chr16:23629719 [GRCh38]
Chr16:23641040 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3201+5_3201+8del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001019200]|not provided [RCV000235324] |
Chr16:23613996..23613999 [GRCh38]
Chr16:23625317..23625320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1714del (p.Ser572fs) |
deletion |
Familial cancer of breast [RCV003454718]|not provided [RCV000235421] |
Chr16:23630440 [GRCh38]
Chr16:23641761 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001854851]|Hereditary cancer-predisposing syndrome [RCV000566295]|not provided [RCV000235440] |
Chr16:23630101 [GRCh38]
Chr16:23641422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs) |
microsatellite |
Familial cancer of breast [RCV001854854]|not provided [RCV000235468] |
Chr16:23635078..23635079 [GRCh38]
Chr16:23646399..23646400 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3014T>C (p.Phe1005Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635611]|Hereditary cancer-predisposing syndrome [RCV000565406]|not provided [RCV000235539] |
Chr16:23621461 [GRCh38]
Chr16:23632782 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) |
deletion |
Familial cancer of breast [RCV000464814]|Hereditary cancer-predisposing syndrome [RCV000575894]|not provided [RCV000235489] |
Chr16:23607974..23607975 [GRCh38]
Chr16:23619295..23619296 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2444C>T (p.Ser815Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000695288]|Hereditary cancer-predisposing syndrome [RCV000572013]|not provided [RCV000235600] |
Chr16:23629710 [GRCh38]
Chr16:23641031 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1570_1571del (p.Ser524fs) |
deletion |
not specified [RCV000235607] |
Chr16:23634975..23634976 [GRCh38]
Chr16:23646296..23646297 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3047T>G (p.Phe1016Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000635899]|Hereditary cancer-predisposing syndrome [RCV000563250]|not provided [RCV000235618] |
Chr16:23621428 [GRCh38]
Chr16:23632749 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001854860]|not provided [RCV000235480] |
Chr16:23623105 [GRCh38]
Chr16:23634426 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.616C>T (p.Leu206Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001854875]|not provided [RCV000235659] |
Chr16:23635930 [GRCh38]
Chr16:23647251 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.155T>C (p.Val52Ala) |
single nucleotide variant |
Breast neoplasm [RCV000417330]|Familial cancer of breast [RCV000462987]|Hereditary cancer-predisposing syndrome [RCV000568339]|not provided [RCV000235666] |
Chr16:23637906 [GRCh38]
Chr16:23649227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2342G>A (p.Ser781Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000695049]|Hereditary cancer-predisposing syndrome [RCV001180224]|Malignant tumor of breast [RCV001355456]|not provided [RCV000235686] |
Chr16:23629812 [GRCh38]
Chr16:23641133 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) |
duplication |
Familial cancer of breast [RCV000461617]|Fanconi anemia complementation group N [RCV003485569]|Hereditary cancer-predisposing syndrome [RCV000454296]|not provided [RCV000235770] |
Chr16:23629870..23629871 [GRCh38]
Chr16:23641191..23641192 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000553351]|Hereditary cancer-predisposing syndrome [RCV001020303]|not provided [RCV000235777]|not specified [RCV000780559] |
Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.398G>A (p.Ser133Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000691656]|Hereditary cancer-predisposing syndrome [RCV000570939]|not provided [RCV000235826]|not specified [RCV000780568] |
Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635934]|not provided [RCV000235843]|not specified [RCV003987476] |
Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1538del (p.Thr513fs) |
deletion |
Familial cancer of breast [RCV000465796]|Hereditary cancer-predisposing syndrome [RCV004649111]|not provided [RCV000235884] |
Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000477362]|Hereditary cancer-predisposing syndrome [RCV000454361]|not provided [RCV000235914] |
Chr16:23603529 [GRCh38]
Chr16:23614850 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1256G>T (p.Cys419Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000686671]|Hereditary cancer-predisposing syndrome [RCV002258864]|not provided [RCV000759893] |
Chr16:23635290 [GRCh38]
Chr16:23646611 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000464776]|Familial cancer of breast [RCV002479940]|Hereditary cancer-predisposing syndrome [RCV000574979]|not provided [RCV000236038] |
Chr16:23630006 [GRCh38]
Chr16:23641327 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000662671]|Hereditary cancer-predisposing syndrome [RCV001020433]|not provided [RCV000235984] |
Chr16:23603528 [GRCh38]
Chr16:23614849 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1655A>G (p.Gln552Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000535862]|Hereditary cancer-predisposing syndrome [RCV000565356]|not provided [RCV000235973] |
Chr16:23634891 [GRCh38]
Chr16:23646212 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000470751]|Familial cancer of breast [RCV002487097]|Hereditary cancer-predisposing syndrome [RCV000571493]|not provided [RCV000236085] |
Chr16:23629957 [GRCh38]
Chr16:23641278 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2961dup (p.Gln988fs) |
duplication |
not provided [RCV000236132] |
Chr16:23623003..23623004 [GRCh38]
Chr16:23634324..23634325 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001854872]|Hereditary cancer-predisposing syndrome [RCV001183519]|not provided [RCV000236192] |
Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1727G>A (p.Ser576Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001317387]|Hereditary cancer-predisposing syndrome [RCV000772053]|not provided [RCV000236534] |
Chr16:23630427 [GRCh38]
Chr16:23641748 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003454716]|Hereditary cancer-predisposing syndrome [RCV002418041]|not provided [RCV000236381] |
Chr16:23630088 [GRCh38]
Chr16:23641409 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2996+5G>T |
single nucleotide variant |
Familial cancer of breast [RCV000468560]|Hereditary cancer-predisposing syndrome [RCV000562437]|PALB2-related disorder [RCV004541468]|not provided [RCV000587970] |
Chr16:23622964 [GRCh38]
Chr16:23634285 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000537105]|Hereditary cancer-predisposing syndrome [RCV000566819]|not provided [RCV000236741]|not specified [RCV001171430] |
Chr16:23629950 [GRCh38]
Chr16:23641271 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1294C>T (p.His432Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003607277]|not provided [RCV000236572] |
Chr16:23635252 [GRCh38]
Chr16:23646573 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.668T>C (p.Ile223Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000635688]|Hereditary cancer-predisposing syndrome [RCV000572381]|not provided [RCV000236902]|not specified [RCV001193466] |
Chr16:23635878 [GRCh38]
Chr16:23647199 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.205C>T (p.His69Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000823428]|Familial cancer of breast [RCV002494677]|Hereditary cancer-predisposing syndrome [RCV000575557]|not provided [RCV000236918]|not specified [RCV000781688] |
Chr16:23637856 [GRCh38]
Chr16:23649177 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1A>G (p.Met1Val) |
single nucleotide variant |
Familial cancer of breast [RCV000696235]|Hereditary cancer-predisposing syndrome [RCV002418043]|not provided [RCV000237093] |
Chr16:23641157 [GRCh38]
Chr16:23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001382726]|not provided [RCV000237059] |
Chr16:23636074 [GRCh38]
Chr16:23647395 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.931A>G (p.Lys311Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000528073]|Hereditary cancer-predisposing syndrome [RCV000564202]|not provided [RCV001584261] |
Chr16:23635615 [GRCh38]
Chr16:23646936 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1046del (p.Asn349fs) |
deletion |
Familial cancer of breast [RCV000555459]|Hereditary cancer-predisposing syndrome [RCV000563951]|not provided [RCV001268549] |
Chr16:23635500 [GRCh38]
Chr16:23646821 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.-36G>A |
single nucleotide variant |
not specified [RCV000605099] |
Chr16:23641193 [GRCh38]
Chr16:23652514 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-39G>T |
single nucleotide variant |
not specified [RCV000599848] |
Chr16:23641196 [GRCh38]
Chr16:23652517 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.195G>T (p.Pro65=) |
single nucleotide variant |
not specified [RCV000606724] |
Chr16:23637866 [GRCh38]
Chr16:23649187 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.640A>C (p.Thr214Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562571] |
Chr16:23635906 [GRCh38]
Chr16:23647227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.814G>T (p.Glu272Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562700] |
Chr16:23635732 [GRCh38]
Chr16:23647053 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2802A>G (p.Val934=) |
single nucleotide variant |
Familial cancer of breast [RCV001495851]|Hereditary cancer-predisposing syndrome [RCV000562803]|not provided [RCV000759901] |
Chr16:23624041 [GRCh38]
Chr16:23635362 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2635A>G (p.Arg879Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001853732]|Hereditary cancer-predisposing syndrome [RCV000563383] |
Chr16:23626349 [GRCh38]
Chr16:23637670 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.447G>T (p.Lys149Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563281] |
Chr16:23636099 [GRCh38]
Chr16:23647420 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1285A>C (p.Ile429Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563315] |
Chr16:23635261 [GRCh38]
Chr16:23646582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.948C>T (p.Pro316=) |
single nucleotide variant |
Familial cancer of breast [RCV000524878]|Hereditary cancer-predisposing syndrome [RCV003159787] |
Chr16:23635598 [GRCh38]
Chr16:23646919 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001234382]|Hereditary cancer-predisposing syndrome [RCV000563623]|not provided [RCV000985891] |
Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3506C>G (p.Ser1169Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000543689]|Hereditary cancer-predisposing syndrome [RCV000563642] |
Chr16:23603514 [GRCh38]
Chr16:23614835 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.560C>A (p.Pro187His) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003448324]|Familial cancer of breast [RCV000635903]|Hereditary cancer [RCV003492103]|Hereditary cancer-predisposing syndrome [RCV000563795]|not provided [RCV002476221] |
Chr16:23635986 [GRCh38]
Chr16:23647307 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2719G>A (p.Glu907Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001853728]|Hereditary cancer-predisposing syndrome [RCV000563796]|not specified [RCV003994023] |
Chr16:23626265 [GRCh38]
Chr16:23637586 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1334A>C (p.Lys445Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002295302]|Hereditary cancer-predisposing syndrome [RCV000564662] |
Chr16:23635212 [GRCh38]
Chr16:23646533 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3211T>C (p.Phe1071Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000541418]|Hereditary cancer-predisposing syndrome [RCV000566217] |
Chr16:23608003 [GRCh38]
Chr16:23619324 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.675A>G (p.Pro225=) |
single nucleotide variant |
Familial cancer of breast [RCV001473695]|Hereditary cancer-predisposing syndrome [RCV000573904] |
Chr16:23635871 [GRCh38]
Chr16:23647192 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2297C>T (p.Ser766Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564510] |
Chr16:23629857 [GRCh38]
Chr16:23641178 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.153A>T (p.Thr51=) |
single nucleotide variant |
not specified [RCV000603815] |
Chr16:23637908 [GRCh38]
Chr16:23649229 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-18A>C |
single nucleotide variant |
Familial cancer of breast [RCV002529472]|Hereditary cancer-predisposing syndrome [RCV001175783]|not specified [RCV000604879] |
Chr16:23621496 [GRCh38]
Chr16:23632817 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3517G>A (p.Ala1173Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000635665]|Hereditary cancer-predisposing syndrome [RCV000566111] |
Chr16:23603503 [GRCh38]
Chr16:23614824 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1266A>G (p.Lys422=) |
single nucleotide variant |
Familial cancer of breast [RCV001475264]|Hereditary cancer-predisposing syndrome [RCV000566243] |
Chr16:23635280 [GRCh38]
Chr16:23646601 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.544del (p.Ile182fs) |
deletion |
Familial cancer of breast [RCV001218112]|Hereditary cancer-predisposing syndrome [RCV002347972]|not provided [RCV000255783] |
Chr16:23636002 [GRCh38]
Chr16:23647323 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs) |
deletion |
not provided [RCV000255792] |
Chr16:23621433..23621434 [GRCh38]
Chr16:23632754..23632755 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3114-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000551424]|Hereditary cancer-predisposing syndrome [RCV000569707]|not provided [RCV000255848] |
Chr16:23614092 [GRCh38]
Chr16:23625413 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002518769]|Hereditary cancer-predisposing syndrome [RCV001013160]|not provided [RCV000255924] |
Chr16:23637883 [GRCh38]
Chr16:23649204 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2937T>C (p.Ser979=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566489] |
Chr16:23623028 [GRCh38]
Chr16:23634349 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003454783]|not provided [RCV000256010] |
Chr16:23636125 [GRCh38]
Chr16:23647446 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1048del (p.Gln350fs) |
deletion |
not provided [RCV000256061] |
Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) |
deletion |
Familial cancer of breast [RCV000576650]|Hereditary cancer-predisposing syndrome [RCV001018066]|Malignant tumor of breast [RCV003492021]|not provided [RCV000256067] |
Chr16:23621458 [GRCh38]
Chr16:23632779 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2835-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV003454780]|not provided [RCV000256178] |
Chr16:23623132 [GRCh38]
Chr16:23634453 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2370A>G (p.Gln790=) |
single nucleotide variant |
Familial cancer of breast [RCV000528789] |
Chr16:23629784 [GRCh38]
Chr16:23641105 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2764A>G (p.Ile922Val) |
single nucleotide variant |
Familial cancer of breast [RCV000799150]|Hereditary cancer-predisposing syndrome [RCV000567694] |
Chr16:23624079 [GRCh38]
Chr16:23635400 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1953A>G (p.Gly651=) |
single nucleotide variant |
Familial cancer of breast [RCV003767128]|Hereditary cancer-predisposing syndrome [RCV000566643] |
Chr16:23630201 [GRCh38]
Chr16:23641522 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.6C>T (p.Asp2=) |
single nucleotide variant |
Familial cancer of breast [RCV001399255]|Hereditary cancer-predisposing syndrome [RCV002367812] |
Chr16:23641152 [GRCh38]
Chr16:23652473 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1429del (p.Thr477fs) |
deletion |
Familial cancer of breast [RCV001853733]|Hereditary cancer-predisposing syndrome [RCV000567168] |
Chr16:23635117 [GRCh38]
Chr16:23646438 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1937_1938dup (p.His647fs) |
microsatellite |
Familial cancer of breast [RCV001380465]|not provided [RCV000515715] |
Chr16:23630215..23630216 [GRCh38]
Chr16:23641536..23641537 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1169C>A (p.Ser390Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000529031] |
Chr16:23635377 [GRCh38]
Chr16:23646698 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.3202-?_3350+?del |
deletion |
Familial cancer of breast [RCV000239995] |
|
pathogenic |
| NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001218569]|Hereditary cancer-predisposing syndrome [RCV000564673] |
Chr16:23635169 [GRCh38]
Chr16:23646490 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001239808]|Hereditary cancer-predisposing syndrome [RCV000566800] |
Chr16:23635405 [GRCh38]
Chr16:23646726 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.1685-?_2748+?dup |
duplication |
Familial cancer of breast [RCV000240558] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000547522]|Fanconi anemia complementation group N [RCV000328650]|Hereditary cancer-predisposing syndrome [RCV000271163] |
Chr16:23637948 [GRCh38]
Chr16:23649269 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.601dup (p.Ser201fs) |
duplication |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003992255]|Familial cancer of breast [RCV000576582]|Hereditary cancer-predisposing syndrome [RCV000454239]|not provided [RCV000275856] |
Chr16:23635944..23635945 [GRCh38]
Chr16:23647265..23647266 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2029del (p.Val677fs) |
deletion |
not provided [RCV000391283] |
Chr16:23630125 [GRCh38]
Chr16:23641446 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.-149G>A |
single nucleotide variant |
Fanconi anemia complementation group N [RCV000278764]|Hereditary cancer-predisposing syndrome [RCV000336126] |
Chr16:23641306 [GRCh38]
Chr16:23652627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2428C>T (p.Pro810Ser) |
single nucleotide variant |
not provided [RCV000586718] |
Chr16:23629726 [GRCh38]
Chr16:23641047 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.413A>C (p.Glu138Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000814273]|not provided [RCV000586801] |
Chr16:23636133 [GRCh38]
Chr16:23647454 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2222G>T (p.Gly741Val) |
single nucleotide variant |
Familial cancer of breast [RCV000705027]|Hereditary cancer-predisposing syndrome [RCV000568439] |
Chr16:23629932 [GRCh38]
Chr16:23641253 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.74A>G (p.Lys25Arg) |
single nucleotide variant |
not specified [RCV001269179] |
Chr16:23638104 [GRCh38]
Chr16:23649425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1193_1194del (p.Val398fs) |
deletion |
Breast and/or ovarian cancer [RCV001270992] |
Chr16:23635352..23635353 [GRCh38]
Chr16:23646673..23646674 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.375A>G (p.Gln125=) |
single nucleotide variant |
Familial cancer of breast [RCV001482322]|Hereditary cancer-predisposing syndrome [RCV000574083] |
Chr16:23636171 [GRCh38]
Chr16:23647492 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.585A>T (p.Ile195=) |
single nucleotide variant |
Familial cancer of breast [RCV000547695]|Hereditary cancer-predisposing syndrome [RCV000570015]|not provided [RCV001722467] |
Chr16:23635961 [GRCh38]
Chr16:23647282 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.810_828del (p.Ser270fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000564818] |
Chr16:23635718..23635736 [GRCh38]
Chr16:23647039..23647057 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1803G>C (p.Lys601Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001213794]|Hereditary cancer-predisposing syndrome [RCV000567899] |
Chr16:23630351 [GRCh38]
Chr16:23641672 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1042_1044del (p.Gln348del) |
deletion |
not provided [RCV000722832] |
Chr16:23635502..23635504 [GRCh38]
Chr16:23646823..23646825 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1434T>C (p.Ser478=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311308] |
Chr16:23635112 [GRCh38]
Chr16:23646433 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2959C>A (p.Gln987Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311312] |
Chr16:23623006 [GRCh38]
Chr16:23634327 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1539A>G (p.Thr513=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311313] |
Chr16:23635007 [GRCh38]
Chr16:23646328 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2425A>T (p.Thr809Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567979] |
Chr16:23629729 [GRCh38]
Chr16:23641050 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1458A>G (p.Lys486=) |
single nucleotide variant |
Familial cancer of breast [RCV000526724]|not provided [RCV000985885] |
Chr16:23635088 [GRCh38]
Chr16:23646409 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) |
duplication |
Familial cancer of breast [RCV003449257]|Hereditary cancer-predisposing syndrome [RCV002404276]|not provided [RCV000487876] |
Chr16:23630428..23630429 [GRCh38]
Chr16:23641749..23641750 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000559528]|Hereditary cancer-predisposing syndrome [RCV000565362]|not provided [RCV001571859]|not specified [RCV001174763] |
Chr16:23624055 [GRCh38]
Chr16:23635376 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3279T>C (p.Ile1093=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565346] |
Chr16:23607935 [GRCh38]
Chr16:23619256 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001242094]|Hereditary cancer-predisposing syndrome [RCV000568921]|Pancreatic cancer, susceptibility to, 3 [RCV003338667] |
Chr16:23629909 [GRCh38]
Chr16:23641230 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000532399] |
Chr16:23635485 [GRCh38]
Chr16:23646806 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup) |
duplication |
Familial cancer of breast [RCV001343804]|not provided [RCV000722439] |
Chr16:23635280..23635281 [GRCh38]
Chr16:23646601..23646602 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.793A>G (p.Ile265Val) |
single nucleotide variant |
Familial cancer of breast [RCV000531817]|Hereditary cancer-predisposing syndrome [RCV000773072] |
Chr16:23635753 [GRCh38]
Chr16:23647074 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2982T>A (p.Phe994Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000532634] |
Chr16:23622983 [GRCh38]
Chr16:23634304 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2818del (p.Glu940fs) |
deletion |
Familial cancer of breast [RCV000532811] |
Chr16:23624025 [GRCh38]
Chr16:23635346 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23614482)_(23614991_23619184)del |
deletion |
Malignant tumor of breast [RCV002281805] |
Chr16:23614482..23614991 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2949C>G (p.Thr983=) |
single nucleotide variant |
Familial cancer of breast [RCV000921181]|Hereditary cancer-predisposing syndrome [RCV000568585]|PALB2-related disorder [RCV004740333] |
Chr16:23623016 [GRCh38]
Chr16:23634337 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1828A>C (p.Thr610Pro) |
single nucleotide variant |
Familial cancer of breast [RCV004569129]|Hereditary cancer-predisposing syndrome [RCV000568145] |
Chr16:23630326 [GRCh38]
Chr16:23641647 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.228_229del (p.Ile76fs) |
microsatellite |
Familial cancer of breast [RCV000709750]|Hereditary breast ovarian cancer syndrome [RCV000585929]|Hereditary cancer-predisposing syndrome [RCV003584668]|not provided [RCV003493679] |
Chr16:23636317..23636318 [GRCh38]
Chr16:23647638..23647639 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1192G>A (p.Val398Met) |
single nucleotide variant |
Familial cancer of breast [RCV000553689]|Hereditary cancer-predisposing syndrome [RCV000771520]|not provided [RCV001030202] |
Chr16:23635354 [GRCh38]
Chr16:23646675 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.893T>C (p.Val298Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568197] |
Chr16:23635653 [GRCh38]
Chr16:23646974 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2235A>G (p.Lys745=) |
single nucleotide variant |
Familial cancer of breast [RCV000636022]|Hereditary cancer-predisposing syndrome [RCV000774632]|not specified [RCV000603362] |
Chr16:23629919 [GRCh38]
Chr16:23641240 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+4A>C |
single nucleotide variant |
Familial cancer of breast [RCV000701534]|Hereditary cancer-predisposing syndrome [RCV000565846] |
Chr16:23607860 [GRCh38]
Chr16:23619181 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.28A>G (p.Ser10Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311296] |
Chr16:23641130 [GRCh38]
Chr16:23652451 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3240del (p.Glu1081fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003311298] |
Chr16:23607974 [GRCh38]
Chr16:23619295 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3445G>T (p.Ala1149Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311300] |
Chr16:23603575 [GRCh38]
Chr16:23614896 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1568C>T (p.Ala523Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311310]|not provided [RCV004765796] |
Chr16:23634978 [GRCh38]
Chr16:23646299 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2001A>T (p.Glu667Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000528052]|Hereditary cancer-predisposing syndrome [RCV001014050] |
Chr16:23630153 [GRCh38]
Chr16:23641474 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1601C>T (p.Ser534Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566158]|not provided [RCV001030238] |
Chr16:23634945 [GRCh38]
Chr16:23646266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1429A>G (p.Thr477Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000550600] |
Chr16:23635117 [GRCh38]
Chr16:23646438 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1155A>G (p.Ala385=) |
single nucleotide variant |
Familial cancer of breast [RCV002060420]|Hereditary cancer-predisposing syndrome [RCV000566394] |
Chr16:23635391 [GRCh38]
Chr16:23646712 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1974A>C (p.Glu658Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000551035]|Hereditary cancer-predisposing syndrome [RCV003362833] |
Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.621A>G (p.Pro207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566509] |
Chr16:23635925 [GRCh38]
Chr16:23647246 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1470C>G (p.Pro490=) |
single nucleotide variant |
Familial cancer of breast [RCV000636033]|Hereditary cancer-predisposing syndrome [RCV000567276] |
Chr16:23635076 [GRCh38]
Chr16:23646397 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+4A>G |
single nucleotide variant |
Familial cancer of breast [RCV001247245]|Hereditary cancer-predisposing syndrome [RCV000567444]|not provided [RCV000586750] |
Chr16:23638066 [GRCh38]
Chr16:23649387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.514_517del (p.Ser172fs) |
deletion |
Familial cancer of breast [RCV000552754]|Hereditary cancer-predisposing syndrome [RCV001189642]|Malignant tumor of breast [RCV001293572] |
Chr16:23636029..23636032 [GRCh38]
Chr16:23647350..23647353 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.901_907del (p.Asp301fs) |
deletion |
Familial cancer of breast [RCV001030187]|Hereditary cancer-predisposing syndrome [RCV000568077]|not provided [RCV000657183] |
Chr16:23635639..23635645 [GRCh38]
Chr16:23646960..23646966 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.733G>C (p.Ala245Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001065218]|Fanconi anemia complementation group N [RCV000369199]|Hereditary cancer-predisposing syndrome [RCV000312211] |
Chr16:23635813 [GRCh38]
Chr16:23647134 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635851]|Familial cancer of breast [RCV002476263]|Hereditary cancer-predisposing syndrome [RCV000579536]|not specified [RCV001821698] |
Chr16:23635416 [GRCh38]
Chr16:23646737 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000549911]|Hereditary cancer-predisposing syndrome [RCV000572967]|Pancreatic cancer, susceptibility to, 3 [RCV001030336]|not provided [RCV004592565] |
Chr16:23626343 [GRCh38]
Chr16:23637664 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109C>G (p.Arg37Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000550350]|Hereditary cancer-predisposing syndrome [RCV000567015] |
Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.851C>T (p.Thr284Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000550650]|Hereditary cancer-predisposing syndrome [RCV000575766] |
Chr16:23635695 [GRCh38]
Chr16:23647016 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000814534]|Hereditary cancer-predisposing syndrome [RCV000564938]|not provided [RCV003478226] |
Chr16:23623107 [GRCh38]
Chr16:23634428 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) |
deletion |
Familial cancer of breast [RCV003451241]|Hereditary cancer-predisposing syndrome [RCV000564999] |
Chr16:23635482 [GRCh38]
Chr16:23646803 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2602T>G (p.Cys868Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000549136] |
Chr16:23626382 [GRCh38]
Chr16:23637703 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2906T>C (p.Val969Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565275] |
Chr16:23623059 [GRCh38]
Chr16:23634380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.432A>G (p.Pro144=) |
single nucleotide variant |
Familial cancer of breast [RCV000920342]|Hereditary cancer-predisposing syndrome [RCV000565285] |
Chr16:23636114 [GRCh38]
Chr16:23647435 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000526864]|Hereditary cancer-predisposing syndrome [RCV002448657]|not provided [RCV002293450] |
Chr16:23635413 [GRCh38]
Chr16:23646734 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.-49C>A |
single nucleotide variant |
not specified [RCV000606303] |
Chr16:23641206 [GRCh38]
Chr16:23652527 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2249T>C (p.Val750Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001337540]|Hereditary cancer-predisposing syndrome [RCV000582136]|not provided [RCV003237955] |
Chr16:23629905 [GRCh38]
Chr16:23641226 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-7T>G |
single nucleotide variant |
Familial cancer of breast [RCV002530804]|Hereditary cancer-predisposing syndrome [RCV000582208] |
Chr16:23629282 [GRCh38]
Chr16:23640603 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1371A>C (p.Glu457Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583925] |
Chr16:23635175 [GRCh38]
Chr16:23646496 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2607dup (p.Val870fs) |
duplication |
Familial cancer of breast [RCV000699553]|Hereditary cancer-predisposing syndrome [RCV000583934] |
Chr16:23626376..23626377 [GRCh38]
Chr16:23637697..23637698 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1704A>G (p.Gln568=) |
single nucleotide variant |
Familial cancer of breast [RCV003607332]|Hereditary cancer-predisposing syndrome [RCV000583986] |
Chr16:23630450 [GRCh38]
Chr16:23641771 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+14T>G |
single nucleotide variant |
Familial cancer of breast [RCV002061896]|Fanconi anemia complementation group N [RCV001116751]|Hereditary cancer-predisposing syndrome [RCV000583916] |
Chr16:23622955 [GRCh38]
Chr16:23634276 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1800A>C (p.Leu600Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000579773] |
Chr16:23630354 [GRCh38]
Chr16:23641675 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635679]|Hereditary cancer-predisposing syndrome [RCV000579885] |
Chr16:23608011 [GRCh38]
Chr16:23619332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1595C>T (p.Pro532Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001853886]|Hereditary cancer-predisposing syndrome [RCV000580022]|not provided [RCV001755967] |
Chr16:23634951 [GRCh38]
Chr16:23646272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.110G>T (p.Arg37Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002529107]|Hereditary cancer-predisposing syndrome [RCV000580072] |
Chr16:23637951 [GRCh38]
Chr16:23649272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000550043]|Hereditary cancer-predisposing syndrome [RCV001013028]|not provided [RCV003478137] |
Chr16:23630389 [GRCh38]
Chr16:23641710 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1175A>G (p.Glu392Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000807416]|Hereditary cancer-predisposing syndrome [RCV000582248] |
Chr16:23635371 [GRCh38]
Chr16:23646692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2877A>G (p.Val959=) |
single nucleotide variant |
Familial cancer of breast [RCV001396964]|Hereditary cancer-predisposing syndrome [RCV000582271] |
Chr16:23623088 [GRCh38]
Chr16:23634409 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1619dup (p.Asn540fs) |
duplication |
Familial cancer of breast [RCV001235208]|Hereditary cancer-predisposing syndrome [RCV000582329] |
Chr16:23634926..23634927 [GRCh38]
Chr16:23646247..23646248 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1914del (p.Phe638fs) |
deletion |
Familial cancer of breast [RCV001236410]|Hereditary cancer-predisposing syndrome [RCV000582393] |
Chr16:23630240 [GRCh38]
Chr16:23641561 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3297G>C (p.Thr1099=) |
single nucleotide variant |
Familial cancer of breast [RCV001410494]|Hereditary cancer-predisposing syndrome [RCV000584055]|not provided [RCV000975645] |
Chr16:23607917 [GRCh38]
Chr16:23619238 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.211+19C>T |
single nucleotide variant |
Familial cancer of breast [RCV002061893]|Hereditary cancer-predisposing syndrome [RCV000584004]|not specified [RCV000607662] |
Chr16:23637831 [GRCh38]
Chr16:23649152 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-18T>C |
single nucleotide variant |
Familial cancer of breast [RCV002530803]|Hereditary cancer-predisposing syndrome [RCV000584110] |
Chr16:23637970 [GRCh38]
Chr16:23649291 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000699252]|Hereditary cancer-predisposing syndrome [RCV000584188]|not provided [RCV001567582] |
Chr16:23629717 [GRCh38]
Chr16:23641038 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.109-12T>A |
single nucleotide variant |
Familial cancer of breast [RCV000794723]|Fanconi anemia complementation group N [RCV003133384]|Hereditary cancer-predisposing syndrome [RCV000579887]|not provided [RCV001030120] |
Chr16:23637964 [GRCh38]
Chr16:23649285 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000701458]|Hereditary cancer-predisposing syndrome [RCV000579960]|Ovarian cancer [RCV003153752]|not provided [RCV001030414] |
Chr16:23603641 [GRCh38]
Chr16:23614962 [GRCh37]
Chr16:16p12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.676A>G (p.Thr226Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001853888]|Hereditary cancer-predisposing syndrome [RCV000580295]|not specified [RCV002248794] |
Chr16:23635870 [GRCh38]
Chr16:23647191 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1546dup (p.Arg516fs) |
duplication |
Familial cancer of breast [RCV001225187]|Hereditary cancer-predisposing syndrome [RCV000582395] |
Chr16:23634999..23635000 [GRCh38]
Chr16:23646320..23646321 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2961A>G (p.Gln987=) |
single nucleotide variant |
Familial cancer of breast [RCV000989553]|Hereditary cancer-predisposing syndrome [RCV000582550] |
Chr16:23623004 [GRCh38]
Chr16:23634325 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1276dup (p.Glu426fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000582558] |
Chr16:23635269..23635270 [GRCh38]
Chr16:23646590..23646591 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2563C>G (p.Leu855Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000582572] |
Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1206T>C (p.Leu402=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000584330] |
Chr16:23635340 [GRCh38]
Chr16:23646661 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635783]|Hereditary cancer-predisposing syndrome [RCV000580586]|not provided [RCV001030236] |
Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2905G>A (p.Val969Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000580616] |
Chr16:23623060 [GRCh38]
Chr16:23634381 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2236G>A (p.Ala746Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001373028]|Hereditary cancer-predisposing syndrome [RCV000580654] |
Chr16:23629918 [GRCh38]
Chr16:23641239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.97G>A (p.Ala33Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002530755]|Hereditary cancer-predisposing syndrome [RCV000580732] |
Chr16:23638081 [GRCh38]
Chr16:23649402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3273G>C (p.Gln1091His) |
single nucleotide variant |
Familial cancer of breast [RCV001853934]|Hereditary cancer-predisposing syndrome [RCV000582608] |
Chr16:23607941 [GRCh38]
Chr16:23619262 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-10A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000582482] |
Chr16:23626407 [GRCh38]
Chr16:23637728 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2047C>T (p.His683Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000805561]|Hereditary cancer-predisposing syndrome [RCV000582645] |
Chr16:23630107 [GRCh38]
Chr16:23641428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2415C>T (p.Val805=) |
single nucleotide variant |
Familial cancer of breast [RCV002529273]|Hereditary cancer-predisposing syndrome [RCV000582689] |
Chr16:23629739 [GRCh38]
Chr16:23641060 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-7T>G |
single nucleotide variant |
Familial cancer of breast [RCV000663169]|Hereditary cancer-predisposing syndrome [RCV000582581]|not specified [RCV004767419] |
Chr16:23630476 [GRCh38]
Chr16:23641797 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1041A>G (p.Glu347=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000582730] |
Chr16:23635505 [GRCh38]
Chr16:23646826 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+15C>T |
single nucleotide variant |
Familial cancer of breast [RCV002061894]|Hereditary cancer-predisposing syndrome [RCV000584236]|Malignant tumor of breast [RCV001355879]|not provided [RCV001597179] |
Chr16:23626221 [GRCh38]
Chr16:23637542 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001860094]|Hereditary cancer-predisposing syndrome [RCV000584241]|not provided [RCV000586520] |
Chr16:23607988 [GRCh38]
Chr16:23619309 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000584423] |
Chr16:23635398 [GRCh38]
Chr16:23646719 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.546del (p.Ser183fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000584485] |
Chr16:23636000 [GRCh38]
Chr16:23647321 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000554257]|Hereditary cancer-predisposing syndrome [RCV000777235]|not provided [RCV004719858] |
Chr16:23635542 [GRCh38]
Chr16:23646863 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1620C>T (p.Asn540=) |
single nucleotide variant |
Familial cancer of breast [RCV002526792]|Hereditary cancer-predisposing syndrome [RCV000568574] |
Chr16:23634926 [GRCh38]
Chr16:23646247 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1965T>C (p.Phe655=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566541] |
Chr16:23630189 [GRCh38]
Chr16:23641510 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3500C>G (p.Thr1167Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001860052]|Hereditary cancer-predisposing syndrome [RCV000580938] |
Chr16:23603520 [GRCh38]
Chr16:23614841 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684+11A>G |
single nucleotide variant |
Familial cancer of breast [RCV001860051]|Fanconi anemia complementation group N [RCV001121720]|Hereditary cancer-predisposing syndrome [RCV000580824] |
Chr16:23634851 [GRCh38]
Chr16:23646172 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2817G>C (p.Leu939Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003607325]|Hereditary cancer-predisposing syndrome [RCV000580854] |
Chr16:23624026 [GRCh38]
Chr16:23635347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1940A>T (p.His647Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000695699]|Hereditary cancer-predisposing syndrome [RCV000582747]|not provided [RCV001755976]|not specified [RCV002282244] |
Chr16:23630214 [GRCh38]
Chr16:23641535 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.108+12G>A |
single nucleotide variant |
Familial cancer of breast [RCV002065103]|Hereditary cancer-predisposing syndrome [RCV000582676]|not specified [RCV000616557] |
Chr16:23638058 [GRCh38]
Chr16:23649379 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3231C>T (p.Pro1077=) |
single nucleotide variant |
Familial cancer of breast [RCV001418183]|Hereditary cancer-predisposing syndrome [RCV000582683] |
Chr16:23607983 [GRCh38]
Chr16:23619304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1413A>G (p.Gly471=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000582788] |
Chr16:23635133 [GRCh38]
Chr16:23646454 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1004A>T (p.Asn335Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000808097]|Hereditary cancer-predisposing syndrome [RCV000582813]|not provided [RCV001755975] |
Chr16:23635542 [GRCh38]
Chr16:23646863 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002529275]|Hereditary cancer-predisposing syndrome [RCV000582849] |
Chr16:23626311 [GRCh38]
Chr16:23637632 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1368G>A (p.Glu456=) |
single nucleotide variant |
Familial cancer of breast [RCV001058296]|Hereditary cancer-predisposing syndrome [RCV000582872] |
Chr16:23635178 [GRCh38]
Chr16:23646499 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.212-18C>T |
single nucleotide variant |
Familial cancer of breast [RCV002529272]|Hereditary cancer-predisposing syndrome [RCV000584371] |
Chr16:23636352 [GRCh38]
Chr16:23647673 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1112A>T (p.Glu371Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000584501] |
Chr16:23635434 [GRCh38]
Chr16:23646755 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000803999]|Hereditary breast ovarian cancer syndrome [RCV001269180]|Hereditary cancer-predisposing syndrome [RCV000584638] |
Chr16:23621408 [GRCh38]
Chr16:23632729 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1857T>C (p.Phe619=) |
single nucleotide variant |
Familial cancer of breast [RCV003607333]|Hereditary cancer-predisposing syndrome [RCV001525793]|not specified [RCV000588740] |
Chr16:23630297 [GRCh38]
Chr16:23641618 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000817606]|Familial cancer of breast [RCV002491131]|Hereditary cancer-predisposing syndrome [RCV000568691]|not provided [RCV003128630] |
Chr16:23623045 [GRCh38]
Chr16:23634366 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.48+6G>A |
single nucleotide variant |
Familial cancer of breast [RCV000532373] |
Chr16:23641104 [GRCh38]
Chr16:23652425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.133A>C (p.Lys45Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568945] |
Chr16:23637928 [GRCh38]
Chr16:23649249 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000809631]|Hereditary cancer-predisposing syndrome [RCV000581038] |
Chr16:23630382 [GRCh38]
Chr16:23641703 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635728]|Hereditary cancer-predisposing syndrome [RCV000581074]|not specified [RCV001824836] |
Chr16:23621368 [GRCh38]
Chr16:23632689 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.29_30delinsTT |
indel |
Hereditary cancer-predisposing syndrome [RCV000581179] |
Chr16:23641128..23641129 [GRCh38]
Chr16:23652449..23652450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) |
deletion |
Familial cancer of breast [RCV000635928]|Familial cancer of breast [RCV002476266]|Hereditary cancer-predisposing syndrome [RCV000582948]|not provided [RCV001030201]|not specified [RCV001800805] |
Chr16:23635403..23635406 [GRCh38]
Chr16:23646724..23646727 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2796G>A (p.Val932=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583029] |
Chr16:23624047 [GRCh38]
Chr16:23635368 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+2C>G |
single nucleotide variant |
Familial cancer of breast [RCV001361268]|Hereditary cancer-predisposing syndrome [RCV000582943] |
Chr16:23607862 [GRCh38]
Chr16:23619183 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2466G>T (p.Gln822His) |
single nucleotide variant |
Familial cancer of breast [RCV000805353]|Hereditary cancer-predisposing syndrome [RCV000583057]|not specified [RCV002248800] |
Chr16:23629688 [GRCh38]
Chr16:23641009 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.338C>T (p.Pro113Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003159984]|Hereditary cancer-predisposing syndrome [RCV000584695] |
Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001407299.1(PALB2):c.3113+7271del |
deletion |
Familial cancer of breast [RCV000816456] |
Chr16:23614091 [GRCh38]
Chr16:23625412 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3228del (p.Cys1078fs) |
deletion |
Familial cancer of breast [RCV003451308]|Hereditary cancer-predisposing syndrome [RCV000581225] |
Chr16:23607986 [GRCh38]
Chr16:23619307 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2847T>C (p.Cys949=) |
single nucleotide variant |
Familial cancer of breast [RCV000869694]|Hereditary cancer-predisposing syndrome [RCV000581254] |
Chr16:23623118 [GRCh38]
Chr16:23634439 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1940A>G (p.His647Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001853932]|Hereditary cancer-predisposing syndrome [RCV000581258] |
Chr16:23630214 [GRCh38]
Chr16:23641535 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001038568]|Gastric cancer [RCV003159983]|Hereditary cancer-predisposing syndrome [RCV000581301] |
Chr16:23614039 [GRCh38]
Chr16:23625360 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.48+5C>T |
single nucleotide variant |
Familial cancer of breast [RCV001246045]|Hereditary cancer-predisposing syndrome [RCV000583006]|PALB2-related disorder [RCV004543293] |
Chr16:23641105 [GRCh38]
Chr16:23652426 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.476A>G (p.Glu159Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001034983]|Hereditary cancer-predisposing syndrome [RCV000583113]|not specified [RCV000781697] |
Chr16:23636070 [GRCh38]
Chr16:23647391 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) |
deletion |
Familial cancer of breast [RCV002529271]|Hereditary cancer-predisposing syndrome [RCV000583187] |
Chr16:23635108..23635109 [GRCh38]
Chr16:23646429..23646430 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1811T>C (p.Leu604Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000555346] |
Chr16:23630343 [GRCh38]
Chr16:23641664 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.759A>G (p.Leu253=) |
single nucleotide variant |
Familial cancer of breast [RCV000555349]|Hereditary cancer-predisposing syndrome [RCV000774641] |
Chr16:23635787 [GRCh38]
Chr16:23647108 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000635895]|Hereditary cancer-predisposing syndrome [RCV002456292]|not specified [RCV000590060] |
Chr16:23603467 [GRCh38]
Chr16:23614788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2606C>A (p.Ser869Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001216427]|Hereditary cancer-predisposing syndrome [RCV000567216] |
Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1518A>G (p.Gln506=) |
single nucleotide variant |
Familial cancer of breast [RCV000552151]|Hereditary cancer-predisposing syndrome [RCV002395343] |
Chr16:23635028 [GRCh38]
Chr16:23646349 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) |
duplication |
Familial cancer of breast [RCV000709749]|Hereditary cancer-predisposing syndrome [RCV000581296]|not provided [RCV003328606] |
Chr16:23635512..23635513 [GRCh38]
Chr16:23646833..23646834 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2298A>G (p.Ser766=) |
single nucleotide variant |
Familial cancer of breast [RCV001464845]|Hereditary cancer-predisposing syndrome [RCV000581427] |
Chr16:23629856 [GRCh38]
Chr16:23641177 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1800A>G (p.Leu600=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583241] |
Chr16:23630354 [GRCh38]
Chr16:23641675 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) |
single nucleotide variant |
Fanconi anemia complementation group N [RCV003133386]|Hereditary cancer-predisposing syndrome [RCV000583166]|not specified [RCV001800806] |
Chr16:23636243 [GRCh38]
Chr16:23647564 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1500T>G (p.Ser500=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583094] |
Chr16:23635046 [GRCh38]
Chr16:23646367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1059A>G (p.Lys353=) |
single nucleotide variant |
not specified [RCV000604323] |
Chr16:23635487 [GRCh38]
Chr16:23646808 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-1G>T |
single nucleotide variant |
not provided [RCV000590615] |
Chr16:23641158 [GRCh38]
Chr16:23652479 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1227T>C (p.Tyr409=) |
single nucleotide variant |
Familial cancer of breast [RCV001451262]|Hereditary cancer-predisposing syndrome [RCV000581501]|not provided [RCV000759892]|not specified [RCV000600139] |
Chr16:23635319 [GRCh38]
Chr16:23646640 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2949C>T (p.Thr983=) |
single nucleotide variant |
Familial cancer of breast [RCV002061895]|Hereditary cancer-predisposing syndrome [RCV000581503] |
Chr16:23623016 [GRCh38]
Chr16:23634337 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+17G>T |
single nucleotide variant |
Familial cancer of breast [RCV001853933]|Hereditary cancer-predisposing syndrome [RCV000581411]|not specified [RCV000609993] |
Chr16:23621345 [GRCh38]
Chr16:23632666 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001345251]|Hereditary cancer-predisposing syndrome [RCV000581417] |
Chr16:23635245 [GRCh38]
Chr16:23646566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-15T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583396] |
Chr16:23623145 [GRCh38]
Chr16:23634466 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003451307]|Hereditary cancer-predisposing syndrome [RCV000581596]|not provided [RCV002268211] |
Chr16:23629690 [GRCh38]
Chr16:23641011 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1685-20G>A |
single nucleotide variant |
Familial cancer of breast [RCV002061892]|Hereditary cancer-predisposing syndrome [RCV000581547] |
Chr16:23630489 [GRCh38]
Chr16:23641810 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2556A>G (p.Pro852=) |
single nucleotide variant |
Familial cancer of breast [RCV001429565]|Hereditary cancer-predisposing syndrome [RCV000581550] |
Chr16:23629234 [GRCh38]
Chr16:23640555 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1468C>T (p.Pro490Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001030232]|Hereditary cancer-predisposing syndrome [RCV000581576] |
Chr16:23635078 [GRCh38]
Chr16:23646399 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1435C>A (p.Gln479Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000581702] |
Chr16:23635111 [GRCh38]
Chr16:23646432 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.36G>C (p.Glu12Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001308779]|Hereditary cancer-predisposing syndrome [RCV000581707] |
Chr16:23641122 [GRCh38]
Chr16:23652443 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583508]|not provided [RCV001712601] |
Chr16:23641167 [GRCh38]
Chr16:23652488 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1012C>G (p.Pro338Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000805488]|Hereditary cancer-predisposing syndrome [RCV000583434] |
Chr16:23635534 [GRCh38]
Chr16:23646855 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3155A>T (p.Asp1052Val) |
single nucleotide variant |
Familial cancer of breast [RCV000821809]|Hereditary cancer-predisposing syndrome [RCV000583445] |
Chr16:23614050 [GRCh38]
Chr16:23625371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003362812]|not provided [RCV000523756] |
Chr16:23607890 [GRCh38]
Chr16:23619211 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3116A>C (p.Asn1039Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003766947]|not provided [RCV000523781] |
Chr16:23614089 [GRCh38]
Chr16:23625410 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2715G>A (p.Gln905=) |
single nucleotide variant |
Familial cancer of breast [RCV000635990]|Hereditary cancer-predisposing syndrome [RCV000581737]|not specified [RCV003117354] |
Chr16:23626269 [GRCh38]
Chr16:23637590 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-1G>T |
single nucleotide variant |
Familial cancer of breast [RCV000824261]|Hereditary cancer-predisposing syndrome [RCV000581632] |
Chr16:23624095 [GRCh38]
Chr16:23635416 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.987A>G (p.Leu329=) |
single nucleotide variant |
Familial cancer of breast [RCV002065104]|Hereditary cancer-predisposing syndrome [RCV000581755] |
Chr16:23635559 [GRCh38]
Chr16:23646880 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1401C>T (p.Gly467=) |
single nucleotide variant |
Familial cancer of breast [RCV000698902]|Hereditary cancer-predisposing syndrome [RCV000581781] |
Chr16:23635145 [GRCh38]
Chr16:23646466 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.262C>T (p.Leu88Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001215064]|Hereditary cancer-predisposing syndrome [RCV000581810] |
Chr16:23636284 [GRCh38]
Chr16:23647605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.667del (p.Ile223fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000583625] |
Chr16:23635879 [GRCh38]
Chr16:23647200 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2257_2259del (p.Arg753del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000583634] |
Chr16:23629895..23629897 [GRCh38]
Chr16:23641216..23641218 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.337C>G (p.Pro113Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635912]|Hereditary cancer-predisposing syndrome [RCV000583654]|not provided [RCV001779019]|not specified [RCV000781694] |
Chr16:23636209 [GRCh38]
Chr16:23647530 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2517T>G (p.Thr839=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583662] |
Chr16:23629273 [GRCh38]
Chr16:23640594 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+11T>C |
single nucleotide variant |
Familial cancer of breast [RCV002529274]|Hereditary cancer-predisposing syndrome [RCV000583590] |
Chr16:23629193 [GRCh38]
Chr16:23640514 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.594C>T (p.His198=) |
single nucleotide variant |
Familial cancer of breast [RCV002061897]|Hereditary cancer-predisposing syndrome [RCV000583703] |
Chr16:23635952 [GRCh38]
Chr16:23647273 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1190_1191del (p.Thr397fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000583714] |
Chr16:23635355..23635356 [GRCh38]
Chr16:23646676..23646677 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3439T>C (p.Cys1147Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569188] |
Chr16:23603581 [GRCh38]
Chr16:23614902 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1843C>G (p.Pro615Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001339383]|Hereditary cancer-predisposing syndrome [RCV000569198]|not provided [RCV001284028] |
Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+10A>G |
single nucleotide variant |
Familial cancer of breast [RCV001399807]|Hereditary cancer-predisposing syndrome [RCV000583772]|not specified [RCV002248801] |
Chr16:23629630 [GRCh38]
Chr16:23640951 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2898A>T (p.Ile966=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000583719] |
Chr16:23623067 [GRCh38]
Chr16:23634388 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.363A>G (p.Thr121=) |
single nucleotide variant |
Familial cancer of breast [RCV001088396]|Hereditary cancer-predisposing syndrome [RCV000583847]|not provided [RCV000967620] |
Chr16:23636183 [GRCh38]
Chr16:23647504 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.211+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000989582]|Hereditary cancer-predisposing syndrome [RCV000581906]|not provided [RCV002466544] |
Chr16:23637849 [GRCh38]
Chr16:23649170 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.109-7C>T |
single nucleotide variant |
Familial cancer of breast [RCV001438248]|Hereditary cancer-predisposing syndrome [RCV000581970] |
Chr16:23637959 [GRCh38]
Chr16:23649280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+20G>A |
single nucleotide variant |
Familial cancer of breast [RCV001860095]|Hereditary cancer-predisposing syndrome [RCV000581991] |
Chr16:23641090 [GRCh38]
Chr16:23652411 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1843C>A (p.Pro615Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000800019]|Hereditary cancer-predisposing syndrome [RCV000582084] |
Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3427C>G (p.Leu1143Val) |
single nucleotide variant |
Familial cancer of breast [RCV000806205]|Hereditary cancer-predisposing syndrome [RCV002332648] |
Chr16:23603593 [GRCh38]
Chr16:23614914 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000706639]|Hereditary cancer-predisposing syndrome [RCV000570203]|not provided [RCV001584379] |
Chr16:23630271 [GRCh38]
Chr16:23641592 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.615A>G (p.Glu205=) |
single nucleotide variant |
Familial cancer of breast [RCV000559401]|Hereditary cancer-predisposing syndrome [RCV000581161] |
Chr16:23635931 [GRCh38]
Chr16:23647252 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs) |
deletion |
Familial cancer of breast [RCV003451271]|Hereditary cancer-predisposing syndrome [RCV000571878] |
Chr16:23629954..23629960 [GRCh38]
Chr16:23641275..23641281 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1494C>T (p.Asp498=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571892] |
Chr16:23635052 [GRCh38]
Chr16:23646373 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1972del (p.Glu658fs) |
deletion |
Familial cancer of breast [RCV001858207]|Gastric cancer [RCV003159963]|Hereditary cancer-predisposing syndrome [RCV000571927] |
Chr16:23630182 [GRCh38]
Chr16:23641503 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3201+20G>T |
single nucleotide variant |
Familial cancer of breast [RCV000410732]|not specified [RCV000434620] |
Chr16:23613984 [GRCh38]
Chr16:23625305 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000410429]|Hereditary cancer-predisposing syndrome [RCV000454290] |
Chr16:23629214 [GRCh38]
Chr16:23640535 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2748+13C>G |
single nucleotide variant |
Familial cancer of breast [RCV000411264]|Hereditary cancer-predisposing syndrome [RCV000580542]|not specified [RCV000417961] |
Chr16:23626223 [GRCh38]
Chr16:23637544 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3256del (p.Arg1086fs) |
deletion |
Familial cancer of breast [RCV000410678]|Hereditary cancer-predisposing syndrome [RCV000565546]|not provided [RCV004760484] |
Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004698787]|Familial cancer of breast [RCV000410696]|Hereditary cancer-predisposing syndrome [RCV000567207]|not provided [RCV000505935] |
Chr16:23641155 [GRCh38]
Chr16:23652476 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3351-5A>G |
single nucleotide variant |
Familial cancer of breast [RCV000930568]|Hereditary cancer-predisposing syndrome [RCV000570221]|not provided [RCV001696960] |
Chr16:23603674 [GRCh38]
Chr16:23614995 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs) |
insertion |
Familial cancer of breast [RCV003451273]|Hereditary cancer-predisposing syndrome [RCV000570259] |
Chr16:23629993..23629994 [GRCh38]
Chr16:23641314..23641315 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3432_3433delinsAT (p.Gly1145Cys) |
indel |
Familial cancer of breast [RCV000635629]|Hereditary cancer-predisposing syndrome [RCV000570300] |
Chr16:23603587..23603588 [GRCh38]
Chr16:23614908..23614909 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.623A>T (p.Asp208Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635613]|Hereditary cancer-predisposing syndrome [RCV000571974]|not provided [RCV001726249] |
Chr16:23635923 [GRCh38]
Chr16:23647244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) |
microsatellite |
Familial cancer of breast [RCV000410910]|Hereditary cancer-predisposing syndrome [RCV000569782]|not provided [RCV000482861] |
Chr16:23636104..23636106 [GRCh38]
Chr16:23647425..23647427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1139G>A (p.Ser380Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000534767]|Hereditary cancer-predisposing syndrome [RCV001189378] |
Chr16:23635407 [GRCh38]
Chr16:23646728 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1214C>G (p.Pro405Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572154]|not provided [RCV001030204] |
Chr16:23635332 [GRCh38]
Chr16:23646653 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2357A>G (p.His786Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000539995]|Hereditary cancer-predisposing syndrome [RCV000774631] |
Chr16:23629797 [GRCh38]
Chr16:23641118 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000540105]|Hereditary cancer-predisposing syndrome [RCV000579884]|not provided [RCV001755821] |
Chr16:23635039 [GRCh38]
Chr16:23646360 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1684+10G>T |
single nucleotide variant |
Familial cancer of breast [RCV000411082] |
Chr16:23634852 [GRCh38]
Chr16:23646173 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1838del (p.Gln613fs) |
deletion |
Familial cancer of breast [RCV000411169]|Hereditary cancer-predisposing syndrome [RCV002411276] |
Chr16:23630316 [GRCh38]
Chr16:23641637 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1653del (p.Gln552fs) |
deletion |
Familial cancer of breast [RCV003451260]|Hereditary cancer-predisposing syndrome [RCV000570673] |
Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.844_847del (p.Arg282fs) |
deletion |
Familial cancer of breast [RCV001221268]|Hereditary cancer-predisposing syndrome [RCV000573235]|Malignant tumor of breast [RCV004701661]|not provided [RCV000657358] |
Chr16:23635699..23635702 [GRCh38]
Chr16:23647020..23647023 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1869G>A (p.Lys623=) |
single nucleotide variant |
Familial cancer of breast [RCV000539532]|Hereditary cancer-predisposing syndrome [RCV000583471] |
Chr16:23630285 [GRCh38]
Chr16:23641606 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.485G>A (p.Cys162Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000540257] |
Chr16:23636061 [GRCh38]
Chr16:23647382 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3404G>C (p.Gly1135Ala) |
single nucleotide variant |
Familial cancer of breast [RCV004569236]|Hereditary cancer-predisposing syndrome [RCV000574784]|not provided [RCV004696950] |
Chr16:23603616 [GRCh38]
Chr16:23614937 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-10A>G |
single nucleotide variant |
Familial cancer of breast [RCV000411335]|not provided [RCV001796024] |
Chr16:23603679 [GRCh38]
Chr16:23615000 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2628T>C (p.Phe876=) |
single nucleotide variant |
Familial cancer of breast [RCV000537832]|Hereditary cancer-predisposing syndrome [RCV001186967] |
Chr16:23626356 [GRCh38]
Chr16:23637677 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.132T>G (p.Ile44Met) |
single nucleotide variant |
Familial cancer of breast [RCV000560340]|Hereditary cancer-predisposing syndrome [RCV000580130]|not specified [RCV000590410] |
Chr16:23637929 [GRCh38]
Chr16:23649250 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001215642]|Familial cancer of breast [RCV002476240]|Hereditary cancer-predisposing syndrome [RCV000572434] |
Chr16:23635016 [GRCh38]
Chr16:23646337 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1661A>G (p.Glu554Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000560464] |
Chr16:23634885 [GRCh38]
Chr16:23646206 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2915del (p.Leu972fs) |
deletion |
Familial cancer of breast [RCV000539206]|Hereditary cancer-predisposing syndrome [RCV002438336] |
Chr16:23623050 [GRCh38]
Chr16:23634371 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.938G>T (p.Gly313Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607313]|Hereditary cancer-predisposing syndrome [RCV000573571] |
Chr16:23635608 [GRCh38]
Chr16:23646929 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.111T>C (p.Arg37=) |
single nucleotide variant |
Familial cancer of breast [RCV000635973]|Hereditary cancer-predisposing syndrome [RCV000574002] |
Chr16:23637950 [GRCh38]
Chr16:23649271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000814465]|Hereditary cancer-predisposing syndrome [RCV000574863] |
Chr16:23635219 [GRCh38]
Chr16:23646540 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2995G>A (p.Gly999Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002528151]|Hereditary cancer-predisposing syndrome [RCV000569420] |
Chr16:23622970 [GRCh38]
Chr16:23634291 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs) |
deletion |
Familial cancer of breast [RCV001388884]|Hereditary cancer-predisposing syndrome [RCV000570851] |
Chr16:23629934..23629935 [GRCh38]
Chr16:23641255..23641256 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2513A>G (p.Gln838Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000703973]|Hereditary cancer-predisposing syndrome [RCV000572503]|not provided [RCV004592702] |
Chr16:23629641 [GRCh38]
Chr16:23640962 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3302T>G (p.Leu1101Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000560521] |
Chr16:23607912 [GRCh38]
Chr16:23619233 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3317T>C (p.Met1106Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000538048]|Hereditary cancer-predisposing syndrome [RCV001190818]|not provided [RCV001541422] |
Chr16:23607897 [GRCh38]
Chr16:23619218 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003219178]|not specified [RCV003321982] |
Chr16:23626250 [GRCh38]
Chr16:23637571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3375T>C (p.Asp1125=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574150] |
Chr16:23603645 [GRCh38]
Chr16:23614966 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.724T>G (p.Phe242Val) |
single nucleotide variant |
Familial cancer of breast [RCV000538178]|Hereditary cancer-predisposing syndrome [RCV001026201] |
Chr16:23635822 [GRCh38]
Chr16:23647143 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) |
single nucleotide variant |
Familial cancer of breast [RCV000534984]|Familial cancer of breast [RCV002490998]|Hereditary cancer-predisposing syndrome [RCV000572648]|not provided [RCV000759902] |
Chr16:23624022 [GRCh38]
Chr16:23635343 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3425del (p.Leu1142fs) |
deletion |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315424]|Familial cancer of breast [RCV000412323]|Hereditary cancer-predisposing syndrome [RCV002450948] |
Chr16:23603595 [GRCh38]
Chr16:23614916 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.43G>A (p.Glu15Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635761]|Hereditary cancer-predisposing syndrome [RCV000571125] |
Chr16:23641115 [GRCh38]
Chr16:23652436 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000016.10:g.(?_23603453)_(23614097_?)del |
deletion |
Familial cancer of breast [RCV000541898] |
Chr16:23603453..23614097 [GRCh38]
Chr16:23614774..23625418 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.233T>C (p.Val78Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001044744]|Hereditary cancer-predisposing syndrome [RCV000575076] |
Chr16:23636313 [GRCh38]
Chr16:23647634 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1708G>C (p.Glu570Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000542001]|PALB2-related disorder [RCV004722886] |
Chr16:23630446 [GRCh38]
Chr16:23641767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1698T>C (p.Arg566=) |
single nucleotide variant |
Familial cancer of breast [RCV000636002]|Hereditary cancer-predisposing syndrome [RCV000571358]|PALB2-related disorder [RCV004530619]|not provided [RCV001755959] |
Chr16:23630456 [GRCh38]
Chr16:23641777 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2660T>G (p.Ile887Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001221245]|Hereditary cancer-predisposing syndrome [RCV000571382]|PALB2-related disorder [RCV004722939]|Pancreatic cancer, susceptibility to, 3 [RCV001030338] |
Chr16:23626324 [GRCh38]
Chr16:23637645 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000812280]|Hereditary cancer-predisposing syndrome [RCV000571419] |
Chr16:23630370 [GRCh38]
Chr16:23641691 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.102C>T (p.Arg34=) |
single nucleotide variant |
Familial cancer of breast [RCV000538446]|Hereditary cancer-predisposing syndrome [RCV001009749] |
Chr16:23638076 [GRCh38]
Chr16:23649397 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.850A>G (p.Thr284Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607310]|Hereditary cancer-predisposing syndrome [RCV000575140]|not provided [RCV001030183] |
Chr16:23635696 [GRCh38]
Chr16:23647017 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.212-24TA[4] |
microsatellite |
Familial cancer of breast [RCV000410697]|Familial cancer of breast [RCV002502438]|Hereditary cancer-predisposing syndrome [RCV000583383]|not provided [RCV000679763] |
Chr16:23636352..23636353 [GRCh38]
Chr16:23647673..23647674 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2467C>T (p.Leu823Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571473] |
Chr16:23629687 [GRCh38]
Chr16:23641008 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000536489]|Hereditary cancer-predisposing syndrome [RCV001187392]|not provided [RCV000759899]|not specified [RCV004596242] |
Chr16:23626388 [GRCh38]
Chr16:23637709 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.430C>G (p.Pro144Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000696043]|Hereditary cancer-predisposing syndrome [RCV000574433] |
Chr16:23636116 [GRCh38]
Chr16:23647437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV001858134]|Hereditary cancer-predisposing syndrome [RCV000574502] |
Chr16:23624096 [GRCh38]
Chr16:23635417 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2910T>G (p.Leu970=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560926] |
Chr16:23623055 [GRCh38]
Chr16:23634376 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1633G>A (p.Glu545Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560954] |
Chr16:23634913 [GRCh38]
Chr16:23646234 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001053672]|Hereditary breast ovarian cancer syndrome [RCV001553686]|Hereditary cancer-predisposing syndrome [RCV000561038] |
Chr16:23629642 [GRCh38]
Chr16:23640963 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2928G>T (p.Arg976Ser) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003444569]|Familial cancer of breast [RCV000556190]|Hereditary cancer-predisposing syndrome [RCV000777238]|not provided [RCV002298647] |
Chr16:23623037 [GRCh38]
Chr16:23634358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000635916]|Hereditary cancer-predisposing syndrome [RCV000569766] |
Chr16:23614011 [GRCh38]
Chr16:23625332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000764048]|Familial cancer of breast [RCV001861653]|Hereditary cancer-predisposing syndrome [RCV000454362] |
Chr16:23629681 [GRCh38]
Chr16:23641002 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 |
copy number gain |
See cases [RCV000449403] |
Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.1557C>T (p.Ala519=) |
single nucleotide variant |
Familial cancer of breast [RCV000553079]|Hereditary cancer-predisposing syndrome [RCV000454128] |
Chr16:23634989 [GRCh38]
Chr16:23646310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1186dup (p.Cys396fs) |
duplication |
Familial cancer of breast [RCV000685167]|Hereditary cancer-predisposing syndrome [RCV000454134]|not provided [RCV000985883] |
Chr16:23635359..23635360 [GRCh38]
Chr16:23646680..23646681 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.956C>T (p.Ser319Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000792997]|Hereditary cancer-predisposing syndrome [RCV000454136] |
Chr16:23635590 [GRCh38]
Chr16:23646911 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) |
duplication |
Familial cancer of breast [RCV000635661]|Hereditary cancer-predisposing syndrome [RCV000454143] |
Chr16:23622989..23622990 [GRCh38]
Chr16:23634310..23634311 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.976dup (p.Ser326fs) |
duplication |
Familial cancer of breast [RCV000635689]|Hereditary cancer-predisposing syndrome [RCV000454170] |
Chr16:23635569..23635570 [GRCh38]
Chr16:23646890..23646891 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1350_1355del (p.450NL[1]) |
deletion |
Familial cancer of breast [RCV000706688]|Hereditary cancer-predisposing syndrome [RCV000454172] |
Chr16:23635191..23635196 [GRCh38]
Chr16:23646512..23646517 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003476020]|Hereditary cancer-predisposing syndrome [RCV000454180] |
Chr16:23635615 [GRCh38]
Chr16:23646936 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2850del (p.Ser951fs) |
deletion |
Familial cancer of breast [RCV001383427]|Hereditary cancer-predisposing syndrome [RCV000454187]|not provided [RCV001284198] |
Chr16:23623115 [GRCh38]
Chr16:23634436 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3202-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV000576715]|Hereditary cancer-predisposing syndrome [RCV000454196] |
Chr16:23608014 [GRCh38]
Chr16:23619335 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2748+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV003449105]|Hereditary cancer-predisposing syndrome [RCV000454214] |
Chr16:23626234 [GRCh38]
Chr16:23637555 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1114dup (p.Ser372fs) |
duplication |
Familial cancer of breast [RCV000534137]|Hereditary cancer-predisposing syndrome [RCV000454221]|not provided [RCV000657345] |
Chr16:23635431..23635432 [GRCh38]
Chr16:23646752..23646753 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs) |
deletion |
Familial cancer of breast [RCV003449103]|Hereditary cancer-predisposing syndrome [RCV000454229] |
Chr16:23635496..23635499 [GRCh38]
Chr16:23646817..23646820 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2832del (p.Arg945fs) |
deletion |
Familial cancer of breast [RCV001861654]|Fanconi anemia complementation group N [RCV001782911]|Hereditary cancer-predisposing syndrome [RCV000454241]|not provided [RCV001030346] |
Chr16:23624011 [GRCh38]
Chr16:23635332 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs) |
deletion |
Familial cancer of breast [RCV003449104]|Hereditary cancer-predisposing syndrome [RCV000454252] |
Chr16:23634954..23634955 [GRCh38]
Chr16:23646275..23646276 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2930T>C (p.Leu977Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635859]|Hereditary cancer-predisposing syndrome [RCV000454273] |
Chr16:23623035 [GRCh38]
Chr16:23634356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2092del (p.Leu698fs) |
deletion |
Familial cancer of breast [RCV000687337]|Hereditary cancer-predisposing syndrome [RCV000454277]|not provided [RCV001008879] |
Chr16:23630062 [GRCh38]
Chr16:23641383 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000529716]|Hereditary cancer-predisposing syndrome [RCV000454280]|not provided [RCV000480681] |
Chr16:23603556 [GRCh38]
Chr16:23614877 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.48+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000454282] |
Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000763378]|Familial cancer of breast [RCV001380280]|Hereditary cancer-predisposing syndrome [RCV000454301]|not provided [RCV000657579] |
Chr16:23638072 [GRCh38]
Chr16:23649393 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3311del (p.Gly1104fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000454312]|not provided [RCV000484224] |
Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2343C>A (p.Ser781Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000454316] |
Chr16:23629811 [GRCh38]
Chr16:23641132 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2103C>T (p.Ser701=) |
single nucleotide variant |
Familial cancer of breast [RCV000554777]|Hereditary cancer-predisposing syndrome [RCV000454317]|not provided [RCV001721487] |
Chr16:23630051 [GRCh38]
Chr16:23641372 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs) |
deletion |
Familial cancer of breast [RCV002526374]|Hereditary cancer-predisposing syndrome [RCV000454322] |
Chr16:23630336..23630337 [GRCh38]
Chr16:23641657..23641658 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.759del (p.Ser254fs) |
deletion |
Familial cancer of breast [RCV000458746]|Hereditary cancer-predisposing syndrome [RCV000454341] |
Chr16:23635787 [GRCh38]
Chr16:23647108 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2765T>A (p.Ile922Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001327843]|Hereditary cancer-predisposing syndrome [RCV000454350]|not provided [RCV001800671] |
Chr16:23624078 [GRCh38]
Chr16:23635399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000466548]|Hereditary cancer-predisposing syndrome [RCV000454354]|Pancreatic cancer, susceptibility to, 3 [RCV001258109]|not provided [RCV000484652] |
Chr16:23638069 [GRCh38]
Chr16:23649390 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315427]|Familial cancer of breast [RCV003239290]|Hereditary cancer-predisposing syndrome [RCV000454356] |
Chr16:23635507 [GRCh38]
Chr16:23646828 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:23567993-23666408)x1 |
copy number loss |
See cases [RCV000447156] |
Chr16:23567993..23666408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.78G>A (p.Arg26=) |
single nucleotide variant |
Familial cancer of breast [RCV000456431]|Hereditary cancer-predisposing syndrome [RCV000563892]|not provided [RCV001720025]|not specified [RCV004596178] |
Chr16:23638100 [GRCh38]
Chr16:23649421 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1989C>T (p.Arg663=) |
single nucleotide variant |
Familial cancer of breast [RCV001215378]|Hereditary cancer-predisposing syndrome [RCV002418294]|not specified [RCV000427597] |
Chr16:23630165 [GRCh38]
Chr16:23641486 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.109-4C>G |
single nucleotide variant |
Familial cancer of breast [RCV001396725]|Hereditary cancer-predisposing syndrome [RCV003168693]|not specified [RCV000431241] |
Chr16:23637956 [GRCh38]
Chr16:23649277 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2043A>G (p.Lys681=) |
single nucleotide variant |
Familial cancer of breast [RCV002522695]|Hereditary cancer-predisposing syndrome [RCV004022520]|not specified [RCV000431270] |
Chr16:23630111 [GRCh38]
Chr16:23641432 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1110G>A (p.Gln370=) |
single nucleotide variant |
Familial cancer of breast [RCV001431166]|Hereditary cancer-predisposing syndrome [RCV001017332]|not provided [RCV001357517] |
Chr16:23635436 [GRCh38]
Chr16:23646757 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3351-9T>C |
single nucleotide variant |
Familial cancer of breast [RCV002522659]|not specified [RCV000437964] |
Chr16:23603678 [GRCh38]
Chr16:23614999 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+19G>A |
single nucleotide variant |
Familial cancer of breast [RCV002063502]|Hereditary cancer-predisposing syndrome [RCV000579460]|not specified [RCV000441483] |
Chr16:23641091 [GRCh38]
Chr16:23652412 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1166T>C (p.Leu389Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000697985]|Hereditary cancer-predisposing syndrome [RCV001017499] |
Chr16:23635380 [GRCh38]
Chr16:23646701 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-5G>A |
single nucleotide variant |
Familial cancer of breast [RCV000474454]|Hereditary cancer-predisposing syndrome [RCV003168660]|not specified [RCV000427652] |
Chr16:23626402 [GRCh38]
Chr16:23637723 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-7T>C |
single nucleotide variant |
Familial cancer of breast [RCV000560076]|Hereditary cancer-predisposing syndrome [RCV001178270]|not specified [RCV000427697] |
Chr16:23636341 [GRCh38]
Chr16:23647662 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+19G>C |
single nucleotide variant |
Familial cancer of breast [RCV002063655]|not specified [RCV000431523] |
Chr16:23641091 [GRCh38]
Chr16:23652412 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3220C>T (p.Leu1074=) |
single nucleotide variant |
Familial cancer of breast [RCV001466865]|Hereditary cancer-predisposing syndrome [RCV000562360]|not specified [RCV000431540] |
Chr16:23607994 [GRCh38]
Chr16:23619315 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+11C>T |
single nucleotide variant |
Familial cancer of breast [RCV002058921]|Hereditary cancer-predisposing syndrome [RCV000775909]|not specified [RCV000434599] |
Chr16:23621351 [GRCh38]
Chr16:23632672 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+10G>A |
single nucleotide variant |
Familial cancer of breast [RCV000474901]|Hereditary cancer-predisposing syndrome [RCV000582777]|not specified [RCV000431630] |
Chr16:23613994 [GRCh38]
Chr16:23625315 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3054G>A (p.Glu1018=) |
single nucleotide variant |
Familial cancer of breast [RCV001409459]|Hereditary cancer-predisposing syndrome [RCV002446687]|not specified [RCV000434836] |
Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2655A>G (p.Pro885=) |
single nucleotide variant |
Familial cancer of breast [RCV001423949]|Hereditary cancer-predisposing syndrome [RCV000775917]|not provided [RCV001698367] |
Chr16:23626329 [GRCh38]
Chr16:23637650 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-16G>A |
single nucleotide variant |
not specified [RCV000438335] |
Chr16:23626413 [GRCh38]
Chr16:23637734 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.903T>C (p.Asp301=) |
single nucleotide variant |
Familial cancer of breast [RCV001451954]|Hereditary cancer-predisposing syndrome [RCV003298435]|not specified [RCV000438352] |
Chr16:23635643 [GRCh38]
Chr16:23646964 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.832C>T (p.Leu278=) |
single nucleotide variant |
Familial cancer of breast [RCV001430081]|Hereditary cancer-predisposing syndrome [RCV002436308]|not specified [RCV000424718] |
Chr16:23635714 [GRCh38]
Chr16:23647035 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+12C>A |
single nucleotide variant |
not specified [RCV000442520] |
Chr16:23621350 [GRCh38]
Chr16:23632671 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+15A>G |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316526]|Familial cancer of breast [RCV002061456]|Hereditary breast ovarian cancer syndrome [RCV002225612]|Hereditary cancer-predisposing syndrome [RCV000580268]|not provided [RCV001810892]|not specified [RCV000418834] |
Chr16:23623994 [GRCh38]
Chr16:23635315 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3099C>T (p.Asn1033=) |
single nucleotide variant |
Familial cancer of breast [RCV000460475]|Hereditary cancer-predisposing syndrome [RCV000568402]|not specified [RCV000442675] |
Chr16:23621376 [GRCh38]
Chr16:23632697 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001046244]|Hereditary cancer-predisposing syndrome [RCV000775926]|not specified [RCV000442850] |
Chr16:23622973 [GRCh38]
Chr16:23634294 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001525971]|not provided [RCV000421638] |
Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2220A>G (p.Gln740=) |
single nucleotide variant |
not specified [RCV000425244] |
Chr16:23629934 [GRCh38]
Chr16:23641255 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1812G>A (p.Leu604=) |
single nucleotide variant |
Familial cancer of breast [RCV001396100]|Hereditary cancer-predisposing syndrome [RCV001013278]|not specified [RCV000432191] |
Chr16:23630342 [GRCh38]
Chr16:23641663 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.249C>T (p.His83=) |
single nucleotide variant |
Familial cancer of breast [RCV001438952]|Hereditary cancer-predisposing syndrome [RCV001015757]|PALB2-related disorder [RCV004539881]|not provided [RCV001726173]|not specified [RCV000435762] |
Chr16:23636297 [GRCh38]
Chr16:23647618 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2319T>G (p.Thr773=) |
single nucleotide variant |
Familial cancer of breast [RCV003500537]|Hereditary cancer-predisposing syndrome [RCV001015170]|not specified [RCV000439306] |
Chr16:23629835 [GRCh38]
Chr16:23641156 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+4A>C |
single nucleotide variant |
not specified [RCV000443024] |
Chr16:23634858 [GRCh38]
Chr16:23646179 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-14T>A |
single nucleotide variant |
Familial cancer of breast [RCV000663142]|Hereditary cancer-predisposing syndrome [RCV003584602]|not specified [RCV000443095] |
Chr16:23630483 [GRCh38]
Chr16:23641804 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001390153]|not provided [RCV000424678] |
Chr16:23635108 [GRCh38]
Chr16:23646429 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2880A>G (p.Leu960=) |
single nucleotide variant |
Familial cancer of breast [RCV001475906]|not specified [RCV000429088] |
Chr16:23623085 [GRCh38]
Chr16:23634406 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3432C>G (p.Leu1144=) |
single nucleotide variant |
Familial cancer of breast [RCV001470539]|Hereditary cancer-predisposing syndrome [RCV000564530]|not provided [RCV000872091] |
Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.297A>G (p.Thr99=) |
single nucleotide variant |
Familial cancer of breast [RCV000943674]|Hereditary cancer-predisposing syndrome [RCV001017753]|not specified [RCV000436028] |
Chr16:23636249 [GRCh38]
Chr16:23647570 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2835-11A>G |
single nucleotide variant |
Familial cancer of breast [RCV002062437]|Hereditary cancer-predisposing syndrome [RCV000582354]|not provided [RCV001712372] |
Chr16:23623141 [GRCh38]
Chr16:23634462 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001038066]|Hereditary cancer-predisposing syndrome [RCV000775893]|not specified [RCV000425596] |
Chr16:23622972 [GRCh38]
Chr16:23634293 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1497G>A (p.Leu499=) |
single nucleotide variant |
Familial cancer of breast [RCV000868026]|Hereditary cancer-predisposing syndrome [RCV000563978]|not provided [RCV001712401] |
Chr16:23635049 [GRCh38]
Chr16:23646370 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+14A>G |
single nucleotide variant |
Familial cancer of breast [RCV002061455]|not specified [RCV000429399] |
Chr16:23637836 [GRCh38]
Chr16:23649157 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2514+18T>G |
single nucleotide variant |
Familial cancer of breast [RCV002062411]|Hereditary cancer-predisposing syndrome [RCV001180017]|not specified [RCV000439754] |
Chr16:23629622 [GRCh38]
Chr16:23640943 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2391A>G (p.Gln797=) |
single nucleotide variant |
Familial cancer of breast [RCV002063480]|Hereditary cancer-predisposing syndrome [RCV002451033]|not specified [RCV000422395] |
Chr16:23629763 [GRCh38]
Chr16:23641084 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.66A>G (p.Ala22=) |
single nucleotide variant |
Familial cancer of breast [RCV001456862]|Fanconi anemia complementation group N [RCV001119846]|Hereditary cancer-predisposing syndrome [RCV000569467]|not provided [RCV000923663] |
Chr16:23638112 [GRCh38]
Chr16:23649433 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.201A>G (p.Leu67=) |
single nucleotide variant |
Familial cancer of breast [RCV002061454]|Hereditary cancer-predisposing syndrome [RCV000580577]|not specified [RCV000422637] |
Chr16:23637860 [GRCh38]
Chr16:23649181 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1611G>A (p.Ser537=) |
single nucleotide variant |
Familial cancer of breast [RCV000989569]|Fanconi anemia complementation group N [RCV001121721]|Hereditary cancer-predisposing syndrome [RCV000572139]|not provided [RCV001703482] |
Chr16:23634935 [GRCh38]
Chr16:23646256 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1685-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV001055212]|Hereditary cancer-predisposing syndrome [RCV002411312]|not provided [RCV000431972] |
Chr16:23630470 [GRCh38]
Chr16:23641791 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.48+16G>A |
single nucleotide variant |
Familial cancer of breast [RCV001861582]|not specified [RCV000436803] |
Chr16:23641094 [GRCh38]
Chr16:23652415 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1123C>T (p.Leu375=) |
single nucleotide variant |
Familial cancer of breast [RCV000937924]|Hereditary cancer-predisposing syndrome [RCV001009925]|not specified [RCV000444135] |
Chr16:23635423 [GRCh38]
Chr16:23646744 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1659C>T (p.His553=) |
single nucleotide variant |
Familial cancer of breast [RCV000636042]|Hereditary cancer-predisposing syndrome [RCV000568745]|not specified [RCV000444145] |
Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+10G>A |
single nucleotide variant |
Familial cancer of breast [RCV001426448]|Hereditary cancer-predisposing syndrome [RCV000580107]|not specified [RCV000423010] |
Chr16:23634852 [GRCh38]
Chr16:23646173 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1974A>G (p.Glu658=) |
single nucleotide variant |
Familial cancer of breast [RCV003607284]|Hereditary cancer-predisposing syndrome [RCV004022396]|not specified [RCV000433512] |
Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.462A>G (p.Thr154=) |
single nucleotide variant |
Familial cancer of breast [RCV000874635]|Hereditary cancer-predisposing syndrome [RCV000569273]|not specified [RCV000436997] |
Chr16:23636084 [GRCh38]
Chr16:23647405 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2034A>G (p.Leu678=) |
single nucleotide variant |
Familial cancer of breast [RCV000472557]|Hereditary cancer-predisposing syndrome [RCV000572092]|PALB2-related disorder [RCV004739720]|not provided [RCV001703483] |
Chr16:23630120 [GRCh38]
Chr16:23641441 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1971G>A (p.Glu657=) |
single nucleotide variant |
Familial cancer of breast [RCV002059668]|not specified [RCV000444352] |
Chr16:23630183 [GRCh38]
Chr16:23641504 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003449055]|not provided [RCV000436797] |
Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3474T>C (p.His1158=) |
single nucleotide variant |
Familial cancer of breast [RCV000461054]|Hereditary cancer-predisposing syndrome [RCV000567371]|not specified [RCV000423165] |
Chr16:23603546 [GRCh38]
Chr16:23614867 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.429G>T (p.Leu143=) |
single nucleotide variant |
Familial cancer of breast [RCV000636040]|Hereditary cancer-predisposing syndrome [RCV002328982]|not specified [RCV000423198] |
Chr16:23636117 [GRCh38]
Chr16:23647438 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2652G>A (p.Glu884=) |
single nucleotide variant |
Familial cancer of breast [RCV003607285]|not specified [RCV000433849] |
Chr16:23626332 [GRCh38]
Chr16:23637653 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2901A>G (p.Lys967=) |
single nucleotide variant |
Familial cancer of breast [RCV000939681]|Hereditary cancer-predisposing syndrome [RCV002436339]|not provided [RCV001704506] |
Chr16:23623064 [GRCh38]
Chr16:23634385 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-4C>T |
single nucleotide variant |
Familial cancer of breast [RCV001409521]|Hereditary cancer-predisposing syndrome [RCV002339057]|not specified [RCV000427040] |
Chr16:23638133 [GRCh38]
Chr16:23649454 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1746C>T (p.Ser582=) |
single nucleotide variant |
Familial cancer of breast [RCV001490679]|Hereditary cancer-predisposing syndrome [RCV000775902]|not provided [RCV003477918]|not specified [RCV000430741] |
Chr16:23630408 [GRCh38]
Chr16:23641729 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.309G>A (p.Gly103=) |
single nucleotide variant |
Familial cancer of breast [RCV001421853]|Hereditary cancer-predisposing syndrome [RCV002323618]|not specified [RCV000430777] |
Chr16:23636237 [GRCh38]
Chr16:23647558 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3419G>C (p.Trp1140Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000459022]|Hereditary cancer-predisposing syndrome [RCV001020256] |
Chr16:23603601 [GRCh38]
Chr16:23614922 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.695del (p.Gly232fs) |
deletion |
Familial cancer of breast [RCV000462844]|Hereditary cancer-predisposing syndrome [RCV001177042]|Inherited prostate cancer [RCV004584215]|Malignant tumor of breast [RCV001355700] |
Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000466463]|Familial cancer of breast [RCV002496776]|Hereditary cancer-predisposing syndrome [RCV000572623] |
Chr16:23635054 [GRCh38]
Chr16:23646375 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000470251]|Familial cancer of breast [RCV002481444]|Hereditary cancer-predisposing syndrome [RCV000568070]|not provided [RCV000679760]|not specified [RCV000781681] |
Chr16:23635163 [GRCh38]
Chr16:23646484 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.-200_3113+?del |
deletion |
Familial cancer of breast [RCV000240082] |
Chr16:23621362..23641357 [GRCh38]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.20A>G (p.Lys7Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000702590]|Hereditary cancer-predisposing syndrome [RCV000571040]|PALB2-related disorder [RCV004527591]|not provided [RCV000483460]|not specified [RCV003226305] |
Chr16:23641138 [GRCh38]
Chr16:23652459 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.45A>G (p.Glu15=) |
single nucleotide variant |
Familial cancer of breast [RCV001085519]|Hereditary cancer-predisposing syndrome [RCV003168912]|not provided [RCV000828254] |
Chr16:23641113 [GRCh38]
Chr16:23652434 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000463150]|Hereditary cancer-predisposing syndrome [RCV001011563] |
Chr16:23635111 [GRCh38]
Chr16:23646432 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3262C>G (p.Pro1088Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000466711] |
Chr16:23607952 [GRCh38]
Chr16:23619273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.177T>C (p.Ser59=) |
single nucleotide variant |
Familial cancer of breast [RCV001413033] |
Chr16:23637884 [GRCh38]
Chr16:23649205 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.294C>G (p.Ile98Met) |
single nucleotide variant |
Familial cancer of breast [RCV000470493]|Hereditary cancer-predisposing syndrome [RCV003362793] |
Chr16:23636252 [GRCh38]
Chr16:23647573 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+8C>T |
single nucleotide variant |
Familial cancer of breast [RCV000470502]|Hereditary cancer-predisposing syndrome [RCV004017633]|PALB2-related disorder [RCV004740248] |
Chr16:23629632 [GRCh38]
Chr16:23640953 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.619C>A (p.Pro207Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000474143] |
Chr16:23635927 [GRCh38]
Chr16:23647248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2877A>T (p.Val959=) |
single nucleotide variant |
Familial cancer of breast [RCV001409446]|Hereditary cancer-predisposing syndrome [RCV002436504]|not specified [RCV000605173] |
Chr16:23623088 [GRCh38]
Chr16:23634409 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.892G>C (p.Val298Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000474350] |
Chr16:23635654 [GRCh38]
Chr16:23646975 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) |
single nucleotide variant |
Carcinoma of colon [RCV001030235]|Familial cancer of breast [RCV000474363]|Familial cancer of breast [RCV002480416]|Hereditary cancer-predisposing syndrome [RCV000575626]|not provided [RCV000587874] |
Chr16:23635009 [GRCh38]
Chr16:23646330 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000459119]|Familial cancer of breast [RCV002489062]|Hereditary cancer-predisposing syndrome [RCV000568217]|not provided [RCV000657580] |
Chr16:23626254 [GRCh38]
Chr16:23637575 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1225T>C (p.Tyr409His) |
single nucleotide variant |
Familial cancer of breast [RCV001306440]|Hereditary cancer-predisposing syndrome [RCV001010425]|not provided [RCV000479502] |
Chr16:23635321 [GRCh38]
Chr16:23646642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3286A>G (p.Asn1096Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001070851]|Hereditary cancer-predisposing syndrome [RCV002446939]|not provided [RCV000483673] |
Chr16:23607928 [GRCh38]
Chr16:23619249 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) |
single nucleotide variant |
Familial cancer of breast [RCV001084275]|Familial cancer of breast [RCV002496833]|Hereditary cancer-predisposing syndrome [RCV000569983]|PALB2-related disorder [RCV004541491]|not provided [RCV000459418]|not specified [RCV001805092] |
Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NC_000016.10:g.(?_23603162)_(23641357_?)del |
deletion |
Familial cancer of breast [RCV000459483] |
Chr16:23603162..23641357 [GRCh38]
Chr16:23614483..23652678 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) |
single nucleotide variant |
Familial cancer of breast [RCV000463216]|Familial cancer of breast [RCV002481447]|Hereditary cancer-predisposing syndrome [RCV000569051]|not provided [RCV001561387] |
Chr16:23635329 [GRCh38]
Chr16:23646650 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1503G>A (p.Arg501=) |
single nucleotide variant |
Familial cancer of breast [RCV000463328]|Hereditary cancer-predisposing syndrome [RCV000562135] |
Chr16:23635043 [GRCh38]
Chr16:23646364 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.635C>G (p.Pro212Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000466962]|Hereditary cancer-predisposing syndrome [RCV003278818] |
Chr16:23635911 [GRCh38]
Chr16:23647232 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23621362)_(23623130_?)del |
deletion |
Familial cancer of breast [RCV000467057] |
Chr16:23621362..23623130 [GRCh38]
Chr16:23632683..23634451 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2586+8G>A |
single nucleotide variant |
Familial cancer of breast [RCV001412130]|Hereditary cancer-predisposing syndrome [RCV001188077] |
Chr16:23629196 [GRCh38]
Chr16:23640517 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3151A>G (p.Ile1051Val) |
single nucleotide variant |
Familial cancer of breast [RCV000470811] |
Chr16:23614054 [GRCh38]
Chr16:23625375 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.858T>C (p.Pro286=) |
single nucleotide variant |
Familial cancer of breast [RCV001465296]|Hereditary cancer-predisposing syndrome [RCV001192342] |
Chr16:23635688 [GRCh38]
Chr16:23647009 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+3A>G |
single nucleotide variant |
Familial cancer of breast [RCV000474406]|Hereditary cancer-predisposing syndrome [RCV001016728] |
Chr16:23624006 [GRCh38]
Chr16:23635327 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1929T>C (p.Phe643=) |
single nucleotide variant |
Familial cancer of breast [RCV001087451]|Hereditary cancer-predisposing syndrome [RCV000563422]|not provided [RCV000833205] |
Chr16:23630225 [GRCh38]
Chr16:23641546 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.*146A>G |
single nucleotide variant |
Familial cancer of breast [RCV000466324] |
Chr16:23603313 [GRCh38]
Chr16:23614634 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2793C>T (p.Leu931=) |
single nucleotide variant |
Familial cancer of breast [RCV000466413]|Hereditary cancer-predisposing syndrome [RCV000570321] |
Chr16:23624050 [GRCh38]
Chr16:23635371 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.548del (p.Ser183fs) |
deletion |
Familial cancer of breast [RCV000546704]|not provided [RCV000482031] |
Chr16:23635998 [GRCh38]
Chr16:23647319 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1184C>T (p.Ser395Phe) |
single nucleotide variant |
not provided [RCV000479732] |
Chr16:23635362 [GRCh38]
Chr16:23646683 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2014G>A (p.Glu672Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001068443]|not provided [RCV000479952] |
Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1694G>T (p.Ser565Ile) |
single nucleotide variant |
not provided [RCV000479988] |
Chr16:23630460 [GRCh38]
Chr16:23641781 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001305631]|not provided [RCV000484044] |
Chr16:23623129 [GRCh38]
Chr16:23634450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1399G>C (p.Gly467Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000459652]|Hereditary cancer-predisposing syndrome [RCV002393137] |
Chr16:23635147 [GRCh38]
Chr16:23646468 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) |
single nucleotide variant |
Familial cancer of breast [RCV000459728]|Familial cancer of breast [RCV002481449]|Hereditary cancer-predisposing syndrome [RCV000573568]|PALB2-related disorder [RCV004740237]|not provided [RCV001030280]|not specified [RCV000780575] |
Chr16:23630025 [GRCh38]
Chr16:23641346 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3508C>A (p.His1170Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000459786]|Hereditary cancer-predisposing syndrome [RCV001192088] |
Chr16:23603512 [GRCh38]
Chr16:23614833 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2725C>G (p.Leu909Val) |
single nucleotide variant |
Familial cancer of breast [RCV000463483]|Hereditary cancer-predisposing syndrome [RCV000572861] |
Chr16:23626259 [GRCh38]
Chr16:23637580 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000467308]|Hereditary cancer-predisposing syndrome [RCV000565804]|not specified [RCV002509391] |
Chr16:23635141 [GRCh38]
Chr16:23646462 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.355del (p.Gln119fs) |
deletion |
Familial cancer of breast [RCV000470952]|Hereditary cancer-predisposing syndrome [RCV000777931] |
Chr16:23636191 [GRCh38]
Chr16:23647512 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2936del (p.Ser979fs) |
deletion |
Familial cancer of breast [RCV000471018]|Hereditary cancer-predisposing syndrome [RCV001017569] |
Chr16:23623029 [GRCh38]
Chr16:23634350 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000474642]|Fanconi anemia complementation group N [RCV001294231]|Hereditary cancer-predisposing syndrome [RCV000571001]|not provided [RCV003477982] |
Chr16:23636036 [GRCh38]
Chr16:23647357 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1742T>C (p.Leu581Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000474723]|Hereditary cancer-predisposing syndrome [RCV000561355]|not provided [RCV001584161] |
Chr16:23630412 [GRCh38]
Chr16:23641733 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1910C>G (p.Pro637Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000474810] |
Chr16:23630244 [GRCh38]
Chr16:23641565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000470766]|Familial cancer of breast [RCV002496778]|Hereditary cancer-predisposing syndrome [RCV000568208] |
Chr16:23607889 [GRCh38]
Chr16:23619210 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000474289]|Hereditary cancer-predisposing syndrome [RCV001188083]|Malignant tumor of breast [RCV001358009] |
Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168945]|not provided [RCV000482275] |
Chr16:23637898 [GRCh38]
Chr16:23649219 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1179A>G (p.Lys393=) |
single nucleotide variant |
Familial cancer of breast [RCV001396731]|Hereditary cancer-predisposing syndrome [RCV000567685]|not provided [RCV000480231] |
Chr16:23635367 [GRCh38]
Chr16:23646688 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val) |
single nucleotide variant |
Familial cancer of breast [RCV000541767]|Familial cancer of breast [RCV002475937]|Hereditary cancer-predisposing syndrome [RCV000571325]|not provided [RCV000679770] |
Chr16:23607994 [GRCh38]
Chr16:23619315 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+20_2514+21del |
microsatellite |
Familial cancer of breast [RCV000663326]|Hereditary cancer-predisposing syndrome [RCV001179077]|not specified [RCV000484369] |
Chr16:23629619..23629620 [GRCh38]
Chr16:23640940..23640941 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1593_1594delinsAA (p.Pro532Thr) |
indel |
Familial cancer of breast [RCV000456200] |
Chr16:23634952..23634953 [GRCh38]
Chr16:23646273..23646274 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2434C>T (p.Pro812Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000459994]|Hereditary cancer-predisposing syndrome [RCV001015523] |
Chr16:23629720 [GRCh38]
Chr16:23641041 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1614T>C (p.Ile538=) |
single nucleotide variant |
Familial cancer of breast [RCV001451567]|not specified [RCV004596220] |
Chr16:23634932 [GRCh38]
Chr16:23646253 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1742del (p.Leu581fs) |
deletion |
Familial cancer of breast [RCV000474845]|Hereditary cancer-predisposing syndrome [RCV004649163] |
Chr16:23630412 [GRCh38]
Chr16:23641733 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2272C>A (p.Pro758Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001030294]|Hereditary cancer-predisposing syndrome [RCV000582044]|not provided [RCV000480440] |
Chr16:23629882 [GRCh38]
Chr16:23641203 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3106_3108del (p.Val1036del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002323836]|not provided [RCV000480444] |
Chr16:23621367..23621369 [GRCh38]
Chr16:23632688..23632690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1357C>T (p.Leu453Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001061052]|Hereditary cancer-predisposing syndrome [RCV002383912]|not provided [RCV000484400] |
Chr16:23635189 [GRCh38]
Chr16:23646510 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2875G>T (p.Val959Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001865437]|Hereditary cancer-predisposing syndrome [RCV000562675]|not provided [RCV000484497] |
Chr16:23623090 [GRCh38]
Chr16:23634411 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2804C>T (p.Ala935Val) |
single nucleotide variant |
Familial cancer of breast [RCV000456370]|not provided [RCV001797089] |
Chr16:23624039 [GRCh38]
Chr16:23635360 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) |
microsatellite |
Colonic neoplasm [RCV001653830]|Familial cancer of breast [RCV000456465]|Gastric cancer [RCV003168820]|Hereditary cancer-predisposing syndrome [RCV000709384]|not provided [RCV001800680] |
Chr16:23634872..23634875 [GRCh38]
Chr16:23646193..23646196 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val) |
single nucleotide variant |
Familial cancer of breast [RCV000456527]|Hereditary cancer-predisposing syndrome [RCV000771464]|not provided [RCV000589068]|not specified [RCV004596198] |
Chr16:23603629 [GRCh38]
Chr16:23614950 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2799T>C (p.Cys933=) |
single nucleotide variant |
Familial cancer of breast [RCV000456575]|Hereditary cancer-predisposing syndrome [RCV000774625]|not specified [RCV000607558] |
Chr16:23624044 [GRCh38]
Chr16:23635365 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.764A>G (p.Asp255Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000460160]|Hereditary cancer-predisposing syndrome [RCV000771521]|not provided [RCV003477983]|not specified [RCV001824789] |
Chr16:23635782 [GRCh38]
Chr16:23647103 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1623G>T (p.Arg541Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000463842]|Hereditary cancer-predisposing syndrome [RCV000573051] |
Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1137G>A (p.Lys379=) |
single nucleotide variant |
Familial cancer of breast [RCV001486591]|not specified [RCV000588160] |
Chr16:23635409 [GRCh38]
Chr16:23646730 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2835-7G>A |
single nucleotide variant |
Familial cancer of breast [RCV000471397] |
Chr16:23623137 [GRCh38]
Chr16:23634458 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3099C>A (p.Asn1033Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000476692]|Hereditary cancer-predisposing syndrome [RCV001018602] |
Chr16:23621376 [GRCh38]
Chr16:23632697 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs) |
insertion |
Familial cancer of breast [RCV001851211]|not provided [RCV000483358] |
Chr16:23635478..23635479 [GRCh38]
Chr16:23646799..23646800 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002525917]|not provided [RCV000480747] |
Chr16:23603599 [GRCh38]
Chr16:23614920 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3246T>A (p.Ser1082Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001851221]|not provided [RCV000480789] |
Chr16:23607968 [GRCh38]
Chr16:23619289 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2614G>A (p.Val872Met) |
single nucleotide variant |
Familial cancer of breast [RCV000696384]|Hereditary cancer-predisposing syndrome [RCV004659056]|not provided [RCV000484695] |
Chr16:23626370 [GRCh38]
Chr16:23637691 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1303G>A (p.Val435Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635753]|Hereditary cancer-predisposing syndrome [RCV001010868]|not provided [RCV000484772] |
Chr16:23635243 [GRCh38]
Chr16:23646564 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) |
single nucleotide variant |
Chordoma [RCV002266967]|Familial cancer of breast [RCV000689372]|Hereditary cancer-predisposing syndrome [RCV001012375]|not provided [RCV000484915] |
Chr16:23634946 [GRCh38]
Chr16:23646267 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1399G>A (p.Gly467Ser) |
single nucleotide variant |
Carcinoma of colon [RCV001030223]|Familial cancer of breast [RCV001220144]|Hereditary cancer-predisposing syndrome [RCV001011366]|not provided [RCV000484965] |
Chr16:23635147 [GRCh38]
Chr16:23646468 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2946G>T (p.Gly982=) |
single nucleotide variant |
Familial cancer of breast [RCV000456647]|Hereditary cancer-predisposing syndrome [RCV001525952] |
Chr16:23623019 [GRCh38]
Chr16:23634340 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NC_000016.10:g.(?_23624009)_(23624094_?)del |
deletion |
Familial cancer of breast [RCV000460399] |
Chr16:23624009..23624094 [GRCh38]
Chr16:23635330..23635415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2623A>T (p.Met875Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000460422] |
Chr16:23626361 [GRCh38]
Chr16:23637682 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2912G>T (p.Gly971Val) |
single nucleotide variant |
Familial cancer of breast [RCV000460458]|Hereditary cancer-predisposing syndrome [RCV000572113] |
Chr16:23623053 [GRCh38]
Chr16:23634374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV000460478]|Hereditary cancer-predisposing syndrome [RCV002429521] |
Chr16:23626399 [GRCh38]
Chr16:23637720 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000464168]|Hereditary breast ovarian cancer syndrome [RCV001030718]|Hereditary cancer-predisposing syndrome [RCV000566603]|not provided [RCV001030103]|not specified [RCV002282156] |
Chr16:23641133 [GRCh38]
Chr16:23652454 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-10A>G |
single nucleotide variant |
Familial cancer of breast [RCV000467868] |
Chr16:23626407 [GRCh38]
Chr16:23637728 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000471672]|Hereditary cancer-predisposing syndrome [RCV001015017] |
Chr16:23629851 [GRCh38]
Chr16:23641172 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1006A>G (p.Asn336Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000471766]|Hereditary cancer-predisposing syndrome [RCV003168822] |
Chr16:23635540 [GRCh38]
Chr16:23646861 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000460671]|Hereditary cancer-predisposing syndrome [RCV000565070]|Pancreatic cancer, susceptibility to, 3 [RCV001357370]|not provided [RCV000485757] |
Chr16:23626264 [GRCh38]
Chr16:23637585 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.470C>T (p.Ser157Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000460958]|Hereditary cancer-predisposing syndrome [RCV000581614]|not provided [RCV000481171] |
Chr16:23636076 [GRCh38]
Chr16:23647397 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000461240]|Familial cancer of breast [RCV002481446]|Hereditary cancer-predisposing syndrome [RCV000563652]|not provided [RCV000586825] |
Chr16:23630458 [GRCh38]
Chr16:23641779 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.709C>A (p.Leu237Ile) |
single nucleotide variant |
not provided [RCV000480879] |
Chr16:23635837 [GRCh38]
Chr16:23647158 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-21_2515-19del |
microsatellite |
Familial cancer of breast [RCV001865450]|Hereditary cancer-predisposing syndrome [RCV000584337]|not specified [RCV000484998] |
Chr16:23629294..23629296 [GRCh38]
Chr16:23640615..23640617 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2514G>A (p.Gln838=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352885]|not provided [RCV000485000] |
Chr16:23629640 [GRCh38]
Chr16:23640961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.295A>C (p.Thr99Pro) |
single nucleotide variant |
not provided [RCV000485016] |
Chr16:23636251 [GRCh38]
Chr16:23647572 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.47A>G (p.Lys16Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003766700]|Hereditary cancer-predisposing syndrome [RCV000584562]|not provided [RCV000485171] |
Chr16:23641111 [GRCh38]
Chr16:23652432 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.119_120delinsTT (p.Arg40Ile) |
indel |
Familial cancer of breast [RCV003607292]|not specified [RCV000485222] |
Chr16:23637941..23637942 [GRCh38]
Chr16:23649262..23649263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1212T>G (p.Phe404Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000456832]|Hereditary cancer-predisposing syndrome [RCV000572809]|PALB2-related disorder [RCV004529597]|not provided [RCV001584162] |
Chr16:23635334 [GRCh38]
Chr16:23646655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492059]|Familial cancer of breast [RCV000456874]|Hereditary cancer-predisposing syndrome [RCV000561159]|Ovarian cancer [RCV003153632]|PALB2-related disorder [RCV004529596] |
Chr16:23635333 [GRCh38]
Chr16:23646654 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.34G>A (p.Glu12Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000456981]|Hereditary cancer-predisposing syndrome [RCV001020463] |
Chr16:23641124 [GRCh38]
Chr16:23652445 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000457054]|Fanconi anemia complementation group N [RCV001813781]|Hereditary cancer-predisposing syndrome [RCV004649161] |
Chr16:23629779 [GRCh38]
Chr16:23641100 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000464317]|Familial cancer of breast [RCV002489063]|Hereditary cancer-predisposing syndrome [RCV000562621]|not provided [RCV004591325] |
Chr16:23629891 [GRCh38]
Chr16:23641212 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1084C>G (p.Leu362Val) |
single nucleotide variant |
Familial cancer of breast [RCV000475695]|Hereditary cancer-predisposing syndrome [RCV000572723] |
Chr16:23635462 [GRCh38]
Chr16:23646783 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1923A>G (p.Lys641=) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316618]|Familial cancer of breast [RCV000989563]|Hereditary cancer-predisposing syndrome [RCV000570008]|PALB2-related disorder [RCV004740249]|not provided [RCV001721538]|not specified [RCV003987551] |
Chr16:23630231 [GRCh38]
Chr16:23641552 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.3546A>G (p.Val1182=) |
single nucleotide variant |
Familial cancer of breast [RCV000475777]|Hereditary cancer-predisposing syndrome [RCV000579709] |
Chr16:23603474 [GRCh38]
Chr16:23614795 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000464002]|Hereditary cancer-predisposing syndrome [RCV000564122]|not provided [RCV000486431] |
Chr16:23635203 [GRCh38]
Chr16:23646524 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2188A>G (p.Ile730Val) |
single nucleotide variant |
Familial cancer of breast [RCV000468216]|Hereditary cancer-predisposing syndrome [RCV000563382]|Malignant tumor of breast [RCV001354437]|not provided [RCV000479293]|not specified [RCV001199879] |
Chr16:23629966 [GRCh38]
Chr16:23641287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000694700]|Hereditary cancer-predisposing syndrome [RCV000561822]|Pancreatic cancer, susceptibility to, 3 [RCV001030372]|not provided [RCV000481068]|not specified [RCV002268123] |
Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.769G>C (p.Gly257Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607293]|Hereditary cancer-predisposing syndrome [RCV002402401]|not provided [RCV000485497] |
Chr16:23635777 [GRCh38]
Chr16:23647098 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.235T>C (p.Tyr79His) |
single nucleotide variant |
Familial cancer of breast [RCV000457264]|Hereditary cancer-predisposing syndrome [RCV000774959] |
Chr16:23636311 [GRCh38]
Chr16:23647632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2056del (p.Arg686fs) |
deletion |
Familial cancer of breast [RCV000460802] |
Chr16:23630098 [GRCh38]
Chr16:23641419 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1761T>C (p.Ala587=) |
single nucleotide variant |
Familial cancer of breast [RCV000460868] |
Chr16:23630393 [GRCh38]
Chr16:23641714 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.673C>T (p.Pro225Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000464707]|Hereditary cancer-predisposing syndrome [RCV000775813] |
Chr16:23635873 [GRCh38]
Chr16:23647194 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2842T>A (p.Phe948Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000468342] |
Chr16:23623123 [GRCh38]
Chr16:23634444 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1752T>C (p.Asp584=) |
single nucleotide variant |
Familial cancer of breast [RCV000468528]|Hereditary cancer-predisposing syndrome [RCV000562132] |
Chr16:23630402 [GRCh38]
Chr16:23641723 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3484G>A (p.Val1162Met) |
single nucleotide variant |
Familial cancer of breast [RCV000476087]|Hereditary cancer-predisposing syndrome [RCV000565094]|not provided [RCV003441880] |
Chr16:23603536 [GRCh38]
Chr16:23614857 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met) |
single nucleotide variant |
Familial cancer of breast [RCV000472486]|Familial cancer of breast [RCV002481448]|Hereditary cancer-predisposing syndrome [RCV000567781]|PALB2-related disorder [RCV004533195]|not provided [RCV000487381]|not specified [RCV003493583] |
Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000474623]|Familial cancer of breast [RCV002481445]|Hereditary cancer-predisposing syndrome [RCV000580520]|not provided [RCV000485071] |
Chr16:23637934 [GRCh38]
Chr16:23649255 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup) |
microsatellite |
Familial cancer of breast [RCV001245580]|Hereditary cancer-predisposing syndrome [RCV000564754]|Ovarian neoplasm [RCV000474774]|not provided [RCV000486630] |
Chr16:23630394..23630395 [GRCh38]
Chr16:23641715..23641716 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000475841]|Hereditary cancer-predisposing syndrome [RCV000575045]|not provided [RCV000479556] |
Chr16:23621440 [GRCh38]
Chr16:23632761 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.206A>T (p.His69Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000476673]|Hereditary cancer-predisposing syndrome [RCV000569594]|not provided [RCV000485056] |
Chr16:23637855 [GRCh38]
Chr16:23649176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1490A>C (p.Asn497Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001183874] |
Chr16:23635056 [GRCh38]
Chr16:23646377 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2915T>C (p.Leu972Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001856853]|Hereditary cancer-predisposing syndrome [RCV002436545]|not provided [RCV000481355] |
Chr16:23623050 [GRCh38]
Chr16:23634371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000534054]|Familial cancer of breast [RCV002489151]|Hereditary cancer-predisposing syndrome [RCV000571996]|PALB2-related disorder [RCV004527587]|Pancreatic cancer, susceptibility to, 3 [RCV001030367]|not provided [RCV000481367] |
Chr16:23621450 [GRCh38]
Chr16:23632771 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000635655]|Familial cancer of breast [RCV002475930]|Hereditary cancer-predisposing syndrome [RCV000581656]|not provided [RCV000481392] |
Chr16:23629743 [GRCh38]
Chr16:23641064 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2606C>T (p.Ser869Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000688490]|Hereditary cancer-predisposing syndrome [RCV000580078]|not provided [RCV000481486] |
Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.752A>G (p.Gln251Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001371804]|Hereditary cancer-predisposing syndrome [RCV001026527]|not provided [RCV000481499] |
Chr16:23635794 [GRCh38]
Chr16:23647115 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2340C>T (p.Gly780=) |
single nucleotide variant |
Familial cancer of breast [RCV000814645]|not provided [RCV000485867] |
Chr16:23629814 [GRCh38]
Chr16:23641135 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2940C>T (p.Ser980=) |
single nucleotide variant |
Familial cancer of breast [RCV000461224]|Hereditary cancer-predisposing syndrome [RCV000580627]|not provided [RCV001712437] |
Chr16:23623025 [GRCh38]
Chr16:23634346 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000461242]|not provided [RCV002509392] |
Chr16:23624095 [GRCh38]
Chr16:23635416 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2424A>C (p.Gly808=) |
single nucleotide variant |
Familial cancer of breast [RCV001405471]|Familial cancer of breast [RCV002489126]|Hereditary cancer-predisposing syndrome [RCV000568058] |
Chr16:23629730 [GRCh38]
Chr16:23641051 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.727A>C (p.Thr243Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000464943]|Hereditary cancer-predisposing syndrome [RCV000567643]|not provided [RCV001848813] |
Chr16:23635819 [GRCh38]
Chr16:23647140 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3152T>C (p.Ile1051Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000468630]|Hereditary cancer-predisposing syndrome [RCV002323732] |
Chr16:23614053 [GRCh38]
Chr16:23625374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23646183)_(23652678_?)dup |
duplication |
Familial cancer of breast [RCV000468677] |
Chr16:23634862..23641357 [GRCh38]
Chr16:23646183..23652678 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000472293] |
Chr16:23635180 [GRCh38]
Chr16:23646501 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.757C>G (p.Leu253Val) |
single nucleotide variant |
Familial cancer of breast [RCV000472302]|Hereditary cancer-predisposing syndrome [RCV002393138] |
Chr16:23635789 [GRCh38]
Chr16:23647110 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.552del (p.Ser184fs) |
deletion |
Familial cancer of breast [RCV000476239]|Hereditary cancer-predisposing syndrome [RCV003362794] |
Chr16:23635994 [GRCh38]
Chr16:23647315 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23626236)_(23630469_?)del |
deletion |
Familial cancer of breast [RCV000476325] |
Chr16:23626236..23630469 [GRCh38]
Chr16:23637557..23641790 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1052C>G (p.Thr351Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000706974]|Hereditary cancer-predisposing syndrome [RCV002402385]|not provided [RCV000481668] |
Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635954]|Hereditary cancer-predisposing syndrome [RCV001011852]|not provided [RCV000486048] |
Chr16:23635055 [GRCh38]
Chr16:23646376 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NC_000016.10:g.(?_23621362)_(23626397_?)del |
deletion |
Familial cancer of breast [RCV000457552] |
Chr16:23621362..23626397 [GRCh38]
Chr16:23632683..23637718 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.243G>C (p.Lys81Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000457618] |
Chr16:23636303 [GRCh38]
Chr16:23647624 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000461441]|Hereditary cancer-predisposing syndrome [RCV000773077]|not provided [RCV003319358]|not specified [RCV003321613] |
Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.284dup (p.Thr96fs) |
duplication |
Familial cancer of breast [RCV000461492] |
Chr16:23636261..23636262 [GRCh38]
Chr16:23647582..23647583 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3264_3266dup (p.Val1089dup) |
duplication |
Familial cancer of breast [RCV000465048]|Hereditary cancer-predisposing syndrome [RCV000580782] |
Chr16:23607947..23607948 [GRCh38]
Chr16:23619268..23619269 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000465081]|Hereditary cancer-predisposing syndrome [RCV000566729]|not provided [RCV000522916] |
Chr16:23626273 [GRCh38]
Chr16:23637594 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3114-3A>G |
single nucleotide variant |
Familial cancer of breast [RCV000465211]|Hereditary cancer-predisposing syndrome [RCV000775815]|not provided [RCV002480417] |
Chr16:23614094 [GRCh38]
Chr16:23625415 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3064A>G (p.Met1022Val) |
single nucleotide variant |
Familial cancer of breast [RCV000465224] |
Chr16:23621411 [GRCh38]
Chr16:23632732 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-3T>C |
single nucleotide variant |
Familial cancer of breast [RCV000468775]|Hereditary cancer-predisposing syndrome [RCV001016565]|not specified [RCV004596199] |
Chr16:23623133 [GRCh38]
Chr16:23634454 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.880A>G (p.Lys294Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000468876]|Hereditary cancer-predisposing syndrome [RCV000574047]|not provided [RCV002223850] |
Chr16:23635666 [GRCh38]
Chr16:23646987 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2502T>C (p.His834=) |
single nucleotide variant |
Familial cancer of breast [RCV001394414] |
Chr16:23629652 [GRCh38]
Chr16:23640973 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3023C>T (p.Pro1008Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000468963]|Hereditary cancer-predisposing syndrome [RCV000561044] |
Chr16:23621452 [GRCh38]
Chr16:23632773 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2507T>A (p.Val836Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000472505] |
Chr16:23629647 [GRCh38]
Chr16:23640968 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.853T>C (p.Ser285Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000472686]|not provided [RCV001030184] |
Chr16:23635693 [GRCh38]
Chr16:23647014 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1734T>C (p.Ser578=) |
single nucleotide variant |
Familial cancer of breast [RCV000476348]|Hereditary cancer-predisposing syndrome [RCV000569080] |
Chr16:23630420 [GRCh38]
Chr16:23641741 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.444G>C (p.Lys148Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000476400]|Hereditary cancer-predisposing syndrome [RCV000775931] |
Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000476491]|Hereditary cancer-predisposing syndrome [RCV002402280]|not provided [RCV000520926] |
Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000476517]|Hereditary cancer-predisposing syndrome [RCV000567346]|not provided [RCV003318580] |
Chr16:23629765 [GRCh38]
Chr16:23641086 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.886dup (p.Met296fs) |
duplication |
Familial cancer of breast [RCV000476540]|Gastric cancer [RCV003168821]|Hereditary cancer-predisposing syndrome [RCV000570661]|not provided [RCV001591095] |
Chr16:23635659..23635660 [GRCh38]
Chr16:23646980..23646981 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1465del (p.Ser489fs) |
deletion |
Familial cancer of breast [RCV003449168]|not provided [RCV000485530] |
Chr16:23635081 [GRCh38]
Chr16:23646402 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2335T>G (p.Ser779Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001295395]|not provided [RCV000482102] |
Chr16:23629819 [GRCh38]
Chr16:23641140 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000662841]|Hereditary cancer-predisposing syndrome [RCV001015195]|not provided [RCV000486202] |
Chr16:23629828 [GRCh38]
Chr16:23641149 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3047T>C (p.Phe1016Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001316103]|Hereditary cancer-predisposing syndrome [RCV000572600]|not provided [RCV000486222] |
Chr16:23621428 [GRCh38]
Chr16:23632749 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1462A>G (p.Ser488Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000685721]|Hereditary cancer-predisposing syndrome [RCV000571809]|not provided [RCV000486346] |
Chr16:23635084 [GRCh38]
Chr16:23646405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1119G>A (p.Glu373=) |
single nucleotide variant |
Familial cancer of breast [RCV000635978]|Hereditary cancer-predisposing syndrome [RCV000568342]|not specified [RCV001805193] |
Chr16:23635427 [GRCh38]
Chr16:23646748 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1424dup (p.Arg476fs) |
duplication |
Familial cancer of breast [RCV000461710]|Hereditary breast ovarian cancer syndrome [RCV003155944]|Hereditary cancer-predisposing syndrome [RCV000709386]|not provided [RCV000657445] |
Chr16:23635121..23635122 [GRCh38]
Chr16:23646442..23646443 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.789A>T (p.Glu263Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000461747]|Hereditary cancer-predisposing syndrome [RCV002418405] |
Chr16:23635757 [GRCh38]
Chr16:23647078 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2791C>T (p.Leu931Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000465386] |
Chr16:23624052 [GRCh38]
Chr16:23635373 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.304G>A (p.Val102Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000465446]|Hereditary cancer-predisposing syndrome [RCV000562562]|not provided [RCV003332178] |
Chr16:23636242 [GRCh38]
Chr16:23647563 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.269A>G (p.Glu90Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000465489] |
Chr16:23636277 [GRCh38]
Chr16:23647598 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000469209]|Familial cancer of breast [RCV002496777]|Hereditary cancer-predisposing syndrome [RCV003298495] |
Chr16:23629923 [GRCh38]
Chr16:23641244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.953_954del (p.Ser318fs) |
deletion |
Familial cancer of breast [RCV000472709]|Hereditary cancer-predisposing syndrome [RCV000775927] |
Chr16:23635592..23635593 [GRCh38]
Chr16:23646913..23646914 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2581T>G (p.Leu861Val) |
single nucleotide variant |
Familial cancer of breast [RCV000472859]|Hereditary cancer-predisposing syndrome [RCV004649162] |
Chr16:23629209 [GRCh38]
Chr16:23640530 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.602G>A (p.Ser201Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000476599] |
Chr16:23635944 [GRCh38]
Chr16:23647265 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2878del (p.Leu960fs) |
deletion |
Familial cancer of breast [RCV000524943]|Familial cancer of breast [RCV002496872]|Hereditary cancer-predisposing syndrome [RCV000568432]|not provided [RCV000485849] |
Chr16:23623087 [GRCh38]
Chr16:23634408 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2021A>T (p.Asp674Val) |
single nucleotide variant |
Familial cancer of breast [RCV001851157]|not provided [RCV000482211] |
Chr16:23630133 [GRCh38]
Chr16:23641454 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+9A>G |
single nucleotide variant |
Familial cancer of breast [RCV001495481]|not provided [RCV000482406] |
Chr16:23638061 [GRCh38]
Chr16:23649382 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315431]|Familial cancer of breast [RCV000538747]|Hereditary cancer-predisposing syndrome [RCV002395159]|not provided [RCV000486572] |
Chr16:23635083 [GRCh38]
Chr16:23646404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1210T>C (p.Phe404Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000795526]|Hereditary cancer-predisposing syndrome [RCV000572900]|not provided [RCV000486674] |
Chr16:23635336 [GRCh38]
Chr16:23646657 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3239A>G (p.Lys1080Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000531690] |
Chr16:23607975 [GRCh38]
Chr16:23619296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.119G>A (p.Arg40Lys) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003446134]|Familial cancer of breast [RCV001063588]|Hereditary cancer-predisposing syndrome [RCV000774647]|not provided [RCV000523351] |
Chr16:23637942 [GRCh38]
Chr16:23649263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003991027]|Familial cancer of breast [RCV000457988]|Hereditary cancer-predisposing syndrome [RCV001016287] |
Chr16:23626307 [GRCh38]
Chr16:23637628 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000458094]|Familial cancer of breast [RCV000764050]|Hereditary cancer-predisposing syndrome [RCV000563170]|not provided [RCV004767272] |
Chr16:23630395 [GRCh38]
Chr16:23641716 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+9C>T |
single nucleotide variant |
Familial cancer of breast [RCV000461761] |
Chr16:23629631 [GRCh38]
Chr16:23640952 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) |
insertion |
Breast carcinoma [RCV001554294]|Familial cancer of breast [RCV000469258]|Hereditary cancer-predisposing syndrome [RCV001005051]|not provided [RCV002281094] |
Chr16:23635613..23635614 [GRCh38]
Chr16:23646934..23646935 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1650A>G (p.Lys550=) |
single nucleotide variant |
Familial cancer of breast [RCV001482731]|Hereditary cancer-predisposing syndrome [RCV000572338] |
Chr16:23634896 [GRCh38]
Chr16:23646217 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3311G>T (p.Gly1104Val) |
single nucleotide variant |
Familial cancer of breast [RCV000476813]|Hereditary cancer-predisposing syndrome [RCV004659048] |
Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000476970]|Hereditary cancer-predisposing syndrome [RCV000775933] |
Chr16:23635402 [GRCh38]
Chr16:23646723 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000476976]|Hereditary cancer-predisposing syndrome [RCV000564912]|PALB2-related disorder [RCV004533194]|not provided [RCV000588415] |
Chr16:23629716 [GRCh38]
Chr16:23641037 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2275del (p.Gln759fs) |
deletion |
not provided [RCV000478873] |
Chr16:23629879 [GRCh38]
Chr16:23641200 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1163dup (p.Leu389fs) |
duplication |
Familial cancer of breast [RCV000635719]|Hereditary cancer-predisposing syndrome [RCV000568264]|Malignant tumor of breast [RCV001731713]|not provided [RCV000479016] |
Chr16:23635382..23635383 [GRCh38]
Chr16:23646703..23646704 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3213T>C (p.Phe1071=) |
single nucleotide variant |
Familial cancer of breast [RCV000553869]|Hereditary cancer-predisposing syndrome [RCV002448659] |
Chr16:23608001 [GRCh38]
Chr16:23619322 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.742G>C (p.Val248Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635771]|Hereditary cancer-predisposing syndrome [RCV002383910]|not provided [RCV000478004] |
Chr16:23635804 [GRCh38]
Chr16:23647125 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2780A>G (p.Asp927Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000530094]|Hereditary cancer-predisposing syndrome [RCV002438179]|not provided [RCV000482542] |
Chr16:23624063 [GRCh38]
Chr16:23635384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1619A>G (p.Asn540Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003607289]|Hereditary cancer-predisposing syndrome [RCV002402384]|not provided [RCV000486906] |
Chr16:23634927 [GRCh38]
Chr16:23646248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000698122]|Hereditary cancer-predisposing syndrome [RCV000775954]|not provided [RCV000486954] |
Chr16:23629732 [GRCh38]
Chr16:23641053 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.721A>C (p.Asn241His) |
single nucleotide variant |
Familial cancer of breast [RCV000458196]|Hereditary cancer-predisposing syndrome [RCV001192087] |
Chr16:23635825 [GRCh38]
Chr16:23647146 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-5A>G |
single nucleotide variant |
Familial cancer of breast [RCV000458326]|Hereditary cancer-predisposing syndrome [RCV004649160] |
Chr16:23608017 [GRCh38]
Chr16:23619338 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) |
deletion |
Familial cancer of breast [RCV000462145]|Hereditary cancer-predisposing syndrome [RCV000561742] |
Chr16:23630447..23630448 [GRCh38]
Chr16:23641768..23641769 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3124dup (p.Thr1042fs) |
duplication |
Familial cancer of breast [RCV000465905]|Hereditary cancer-predisposing syndrome [RCV000775816] |
Chr16:23614080..23614081 [GRCh38]
Chr16:23625401..23625402 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.785T>G (p.Leu262Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000465982] |
Chr16:23635761 [GRCh38]
Chr16:23647082 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000469475] |
Chr16:23629826 [GRCh38]
Chr16:23641147 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.557dup (p.Asn186fs) |
duplication |
Breast carcinoma [RCV001554319]|Familial cancer of breast [RCV000469484]|Hereditary cancer-predisposing syndrome [RCV001183458] |
Chr16:23635988..23635989 [GRCh38]
Chr16:23647309..23647310 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1469C>T (p.Pro490Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000469529]|Hereditary cancer-predisposing syndrome [RCV004659047] |
Chr16:23635077 [GRCh38]
Chr16:23646398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.7G>C (p.Glu3Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000469584] |
Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000469612]|Hereditary cancer-predisposing syndrome [RCV001012094]|PALB2-related disorder [RCV004529598] |
Chr16:23634993 [GRCh38]
Chr16:23646314 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000469658]|Hereditary cancer-predisposing syndrome [RCV000563832]|not provided [RCV003153633] |
Chr16:23635443 [GRCh38]
Chr16:23646764 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000635632]|Hereditary cancer-predisposing syndrome [RCV000708730]|not provided [RCV000478421] |
Chr16:23614083 [GRCh38]
Chr16:23625404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2780A>T (p.Asp927Val) |
single nucleotide variant |
Familial cancer of breast [RCV000821959]|Hereditary cancer-predisposing syndrome [RCV000774626]|not provided [RCV000478472] |
Chr16:23624063 [GRCh38]
Chr16:23635384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-6T>C |
single nucleotide variant |
Familial cancer of breast [RCV001078733]|not provided [RCV000482960] |
Chr16:23614097 [GRCh38]
Chr16:23625418 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2972T>G (p.Val991Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438180]|not provided [RCV000482961] |
Chr16:23622993 [GRCh38]
Chr16:23634314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.661G>A (p.Val221Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000462286]|Hereditary cancer-predisposing syndrome [RCV000569599]|not provided [RCV003324751] |
Chr16:23635885 [GRCh38]
Chr16:23647206 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1871T>C (p.Leu624Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000462381] |
Chr16:23630283 [GRCh38]
Chr16:23641604 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.224_228del (p.Lys75fs) |
microsatellite |
Familial cancer of breast [RCV001238319]|Hereditary cancer-predisposing syndrome [RCV001178087]|not provided [RCV000487278] |
Chr16:23636318..23636322 [GRCh38]
Chr16:23647639..23647643 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000798423]|Hereditary cancer-predisposing syndrome [RCV001010834]|not provided [RCV000478568] |
Chr16:23635209 [GRCh38]
Chr16:23646530 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2835-22dup |
duplication |
Familial cancer of breast [RCV002063722]|Hereditary cancer-predisposing syndrome [RCV001178850]|not specified [RCV000478678] |
Chr16:23623147..23623148 [GRCh38]
Chr16:23634468..23634469 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|uncertain significance |
| NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000458643]|Hereditary cancer-predisposing syndrome [RCV000564398] |
Chr16:23638096 [GRCh38]
Chr16:23649417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2028T>G (p.Ile676Met) |
single nucleotide variant |
Familial cancer of breast [RCV000462496]|Hereditary cancer-predisposing syndrome [RCV001014131] |
Chr16:23630126 [GRCh38]
Chr16:23641447 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV000466376]|Hereditary cancer-predisposing syndrome [RCV001020064]|not provided [RCV004721374] |
Chr16:23603671 [GRCh38]
Chr16:23614992 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2678A>C (p.Asp893Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000470081] |
Chr16:23626306 [GRCh38]
Chr16:23637627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.813T>G (p.Ser271Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000477612] |
Chr16:23635733 [GRCh38]
Chr16:23647054 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) |
deletion |
Familial cancer of breast [RCV002525797]|Hereditary cancer-predisposing syndrome [RCV002455916]|not provided [RCV000480125] |
Chr16:23626349..23626350 [GRCh38]
Chr16:23637670..23637671 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2749-16_2749-14del |
microsatellite |
Familial cancer of breast [RCV000662767]|Hereditary cancer-predisposing syndrome [RCV000580010]|not specified [RCV000478938] |
Chr16:23624108..23624110 [GRCh38]
Chr16:23635429..23635431 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2266T>C (p.Cys756Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001222102]|not provided [RCV000478990] |
Chr16:23629888 [GRCh38]
Chr16:23641209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-19dup |
duplication |
not specified [RCV000479020] |
Chr16:23641175..23641176 [GRCh38]
Chr16:23652496..23652497 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3490T>C (p.Trp1164Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001853731]|Hereditary cancer-predisposing syndrome [RCV000568566]|not specified [RCV003994024] |
Chr16:23603530 [GRCh38]
Chr16:23614851 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2494C>T (p.His832Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635698]|Hereditary cancer-predisposing syndrome [RCV000568602]|not specified [RCV001174939] |
Chr16:23629660 [GRCh38]
Chr16:23640981 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000016.10:g.(?_23603459)_(23626397_?)del |
deletion |
Familial cancer of breast [RCV000168323] |
Chr16:23603459..23626397 [GRCh38]
Chr16:23614780..23637718 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23603459)_(23608012_?)del |
deletion |
Familial cancer of breast [RCV000205329] |
Chr16:23603459..23608012 [GRCh38]
Chr16:23614780..23619333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.2325dup (p.Phe776Ilefs) |
duplication |
not provided [RCV000508431] |
Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1753del (p.Asp585fs) |
deletion |
Familial cancer of breast [RCV000823680]|Hereditary cancer-predisposing syndrome [RCV003362804]|not provided [RCV000506134] |
Chr16:23630401 [GRCh38]
Chr16:23641722 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.3(PALB2):c.2642_2645dup (p.Cys882Trpfs) |
duplication |
not provided [RCV000506147] |
Chr16:23626339..23626342 [GRCh38]
Chr16:23637660..23637663 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.571C>A (p.Pro191Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001225933]|Hereditary cancer-predisposing syndrome [RCV000561187]|not provided [RCV001558217]|not specified [RCV000506516] |
Chr16:23635975 [GRCh38]
Chr16:23647296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1778A>G (p.His593Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000698252]|Hereditary cancer-predisposing syndrome [RCV001013144]|not provided [RCV000759180] |
Chr16:23630376 [GRCh38]
Chr16:23641697 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000560068]|Hereditary cancer-predisposing syndrome [RCV004649179]|not provided [RCV004719846]|not specified [RCV000507124] |
Chr16:23603503 [GRCh38]
Chr16:23614824 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000535566]|Hereditary cancer-predisposing syndrome [RCV000575810]|not provided [RCV000507280] |
Chr16:23638116 [GRCh38]
Chr16:23649437 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2298dup (p.Val767fs) |
duplication |
Familial cancer of breast [RCV001241216]|not provided [RCV000507324] |
Chr16:23629855..23629856 [GRCh38]
Chr16:23641176..23641177 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 |
copy number gain |
See cases [RCV000511587] |
Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.1631A>G (p.Glu544Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000698109]|Hereditary cancer-predisposing syndrome [RCV003303163] |
Chr16:23634915 [GRCh38]
Chr16:23646236 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2179G>C (p.Ala727Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570354] |
Chr16:23629975 [GRCh38]
Chr16:23641296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.797C>T (p.Pro266Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001858208]|Hereditary cancer-predisposing syndrome [RCV000561813] |
Chr16:23635749 [GRCh38]
Chr16:23647070 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2857G>A (p.Asp953Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001858133]|Hereditary cancer-predisposing syndrome [RCV000561887] |
Chr16:23623108 [GRCh38]
Chr16:23634429 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.2913C>T (p.Gly971=) |
single nucleotide variant |
Familial cancer of breast [RCV000531355]|Hereditary cancer-predisposing syndrome [RCV001016945] |
Chr16:23623052 [GRCh38]
Chr16:23634373 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3(PALB2):c.3350+1090_*1278dup |
duplication |
Familial cancer of breast [RCV000495500] |
Chr16:23602181..23606774 [GRCh38]
Chr16:23613502..23618095 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1232G>A (p.Arg411Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000699441]|Hereditary cancer-predisposing syndrome [RCV003302758]|not provided [RCV000524039] |
Chr16:23635314 [GRCh38]
Chr16:23646635 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000533343]|Hereditary cancer-predisposing syndrome [RCV002456088] |
Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1051A>G (p.Thr351Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572475] |
Chr16:23635495 [GRCh38]
Chr16:23646816 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer) |
deletion |
Familial cancer of breast [RCV000537968]|Hereditary cancer-predisposing syndrome [RCV002395342] |
Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1726A>T (p.Ser576Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001858165]|Hereditary cancer-predisposing syndrome [RCV000574954] |
Chr16:23630428 [GRCh38]
Chr16:23641749 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.187C>G (p.Leu63Val) |
single nucleotide variant |
Familial cancer of breast [RCV001858327]|Hereditary cancer-predisposing syndrome [RCV000575025] |
Chr16:23637874 [GRCh38]
Chr16:23649195 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2892A>C (p.Gly964=) |
single nucleotide variant |
Familial cancer of breast [RCV000541934] |
Chr16:23623073 [GRCh38]
Chr16:23634394 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1648A>G (p.Lys550Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001051273]|Hereditary cancer-predisposing syndrome [RCV000569675] |
Chr16:23634898 [GRCh38]
Chr16:23646219 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1875A>G (p.Glu625=) |
single nucleotide variant |
Familial cancer of breast [RCV000556101]|Hereditary cancer-predisposing syndrome [RCV002413487] |
Chr16:23630279 [GRCh38]
Chr16:23641600 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.531G>A (p.Lys177=) |
single nucleotide variant |
Familial cancer of breast [RCV000873953]|Hereditary cancer-predisposing syndrome [RCV000572729] |
Chr16:23636015 [GRCh38]
Chr16:23647336 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000801789]|Hereditary cancer-predisposing syndrome [RCV000575169]|not provided [RCV000586706] |
Chr16:23630321 [GRCh38]
Chr16:23641642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3138G>A (p.Leu1046=) |
single nucleotide variant |
Familial cancer of breast [RCV001456932]|Hereditary cancer-predisposing syndrome [RCV000575172]|not provided [RCV000929524] |
Chr16:23614067 [GRCh38]
Chr16:23625388 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.505C>G (p.Leu169Val) |
single nucleotide variant |
Familial cancer of breast [RCV001345557]|Hereditary cancer-predisposing syndrome [RCV000575213] |
Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs) |
duplication |
Familial cancer of breast [RCV003316741]|Hereditary cancer-predisposing syndrome [RCV000575223] |
Chr16:23629886..23629887 [GRCh38]
Chr16:23641207..23641208 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) |
microsatellite |
Familial cancer of breast [RCV000662605]|Hereditary cancer-predisposing syndrome [RCV000575293] |
Chr16:23629952..23629954 [GRCh38]
Chr16:23641273..23641275 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1073C>A (p.Pro358His) |
single nucleotide variant |
Familial cancer of breast [RCV000635616]|Hereditary cancer-predisposing syndrome [RCV000572759]|not provided [RCV000985882] |
Chr16:23635473 [GRCh38]
Chr16:23646794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1278G>A (p.Glu426=) |
single nucleotide variant |
Familial cancer of breast [RCV000554872]|Hereditary cancer-predisposing syndrome [RCV000572799]|Malignant tumor of breast [RCV001356740] |
Chr16:23635268 [GRCh38]
Chr16:23646589 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1537A>C (p.Thr513Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001202792]|Hereditary cancer-predisposing syndrome [RCV000575420] |
Chr16:23635009 [GRCh38]
Chr16:23646330 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3074C>T (p.Ala1025Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635630]|Hereditary cancer-predisposing syndrome [RCV000575426] |
Chr16:23621401 [GRCh38]
Chr16:23632722 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2864G>A (p.Ser955Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575512] |
Chr16:23623101 [GRCh38]
Chr16:23634422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+20T>C |
single nucleotide variant |
Familial cancer of breast [RCV002531546]|not specified [RCV000601708] |
Chr16:23629620 [GRCh38]
Chr16:23640941 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3066G>C (p.Met1022Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000534411]|Hereditary cancer-predisposing syndrome [RCV002448658] |
Chr16:23621409 [GRCh38]
Chr16:23632730 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.44A>T (p.Glu15Val) |
single nucleotide variant |
Familial cancer of breast [RCV001058727]|Hereditary cancer-predisposing syndrome [RCV000573021] |
Chr16:23641114 [GRCh38]
Chr16:23652435 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2214C>T (p.Gly738=) |
single nucleotide variant |
Familial cancer of breast [RCV001415606]|Hereditary cancer-predisposing syndrome [RCV000573109] |
Chr16:23629940 [GRCh38]
Chr16:23641261 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2115T>C (p.Tyr705=) |
single nucleotide variant |
Familial cancer of breast [RCV001396727]|Hereditary cancer-predisposing syndrome [RCV000575536] |
Chr16:23630039 [GRCh38]
Chr16:23641360 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2835-5C>T |
single nucleotide variant |
Familial cancer of breast [RCV002060484]|Hereditary cancer-predisposing syndrome [RCV000575583] |
Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2974A>G (p.Met992Val) |
single nucleotide variant |
Familial cancer of breast [RCV001853730]|Hereditary cancer-predisposing syndrome [RCV000575699] |
Chr16:23622991 [GRCh38]
Chr16:23634312 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.394G>C (p.Val132Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575712] |
Chr16:23636152 [GRCh38]
Chr16:23647473 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2276A>G (p.Gln759Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566619] |
Chr16:23629878 [GRCh38]
Chr16:23641199 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000557004] |
Chr16:23635464 [GRCh38]
Chr16:23646785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001035439]|Hereditary cancer-predisposing syndrome [RCV000570278] |
Chr16:23630112 [GRCh38]
Chr16:23641433 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.22C>T (p.Pro8Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001858135]|Hereditary cancer-predisposing syndrome [RCV000575831] |
Chr16:23641136 [GRCh38]
Chr16:23652457 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2656T>A (p.Cys886Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635652]|Hereditary cancer-predisposing syndrome [RCV000575941] |
Chr16:23626328 [GRCh38]
Chr16:23637649 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.620del (p.Pro207fs) |
deletion |
Familial cancer of breast [RCV000576777]|Hereditary cancer-predisposing syndrome [RCV003159970]|not provided [RCV001008192] |
Chr16:23635926 [GRCh38]
Chr16:23647247 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3421G>C (p.Asp1141His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000579489] |
Chr16:23603599 [GRCh38]
Chr16:23614920 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1031del (p.Asn344fs) |
deletion |
Familial cancer of breast [RCV000690752]|Hereditary cancer-predisposing syndrome [RCV000570666] |
Chr16:23635515 [GRCh38]
Chr16:23646836 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.21G>A (p.Lys7=) |
single nucleotide variant |
Familial cancer of breast [RCV000636032]|Hereditary cancer-predisposing syndrome [RCV000573279]|Malignant tumor of breast [RCV001357736]|not provided [RCV004569130] |
Chr16:23641137 [GRCh38]
Chr16:23652458 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.386C>G (p.Pro129Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573367] |
Chr16:23636160 [GRCh38]
Chr16:23647481 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1897A>G (p.Lys633Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000689600]|Hereditary cancer-predisposing syndrome [RCV000576039] |
Chr16:23630257 [GRCh38]
Chr16:23641578 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.945G>T (p.Leu315=) |
single nucleotide variant |
Familial cancer of breast [RCV002060405]|Hereditary cancer-predisposing syndrome [RCV000576063] |
Chr16:23635601 [GRCh38]
Chr16:23646922 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.38A>C (p.Glu13Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000579852] |
Chr16:23641120 [GRCh38]
Chr16:23652441 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000557714]|Hereditary cancer-predisposing syndrome [RCV001014881]|not provided [RCV001008028] |
Chr16:23636323 [GRCh38]
Chr16:23647644 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1176A>G (p.Glu392=) |
single nucleotide variant |
Familial cancer of breast [RCV001423280]|Hereditary cancer-predisposing syndrome [RCV000570728]|not specified [RCV003321674] |
Chr16:23635370 [GRCh38]
Chr16:23646691 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1990A>C (p.Met664Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000535309] |
Chr16:23630164 [GRCh38]
Chr16:23641485 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1204C>T (p.Leu402Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001858212]|Hereditary cancer-predisposing syndrome [RCV000573520] |
Chr16:23635342 [GRCh38]
Chr16:23646663 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer) |
deletion |
Familial cancer of breast [RCV003451337]|Hereditary breast ovarian cancer syndrome [RCV000590429] |
Chr16:23635714..23635717 [GRCh38]
Chr16:23647035..23647038 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1081A>T (p.Thr361Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000822321]|Hereditary cancer-predisposing syndrome [RCV000570839] |
Chr16:23635465 [GRCh38]
Chr16:23646786 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1125A>C (p.Leu375=) |
single nucleotide variant |
Familial cancer of breast [RCV000931888]|Hereditary cancer-predisposing syndrome [RCV000570843]|not specified [RCV000611012] |
Chr16:23635421 [GRCh38]
Chr16:23646742 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1999_2001dup (p.Glu667dup) |
duplication |
Familial cancer of breast [RCV001359579]|Hereditary cancer-predisposing syndrome [RCV000570879] |
Chr16:23630152..23630153 [GRCh38]
Chr16:23641473..23641474 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3021G>A (p.Met1007Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000558068]|Hereditary cancer-predisposing syndrome [RCV002438337]|not provided [RCV001775855] |
Chr16:23621454 [GRCh38]
Chr16:23632775 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-7C>A |
single nucleotide variant |
Familial cancer of breast [RCV002066696]|Hereditary cancer-predisposing syndrome [RCV003584674]|not specified [RCV000605132] |
Chr16:23637959 [GRCh38]
Chr16:23649280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001304806]|Hereditary cancer-predisposing syndrome [RCV000571175] |
Chr16:23634984 [GRCh38]
Chr16:23646305 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3121A>G (p.Lys1041Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001853734]|Hereditary cancer-predisposing syndrome [RCV000573740] |
Chr16:23614084 [GRCh38]
Chr16:23625405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2158A>C (p.Thr720Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573754] |
Chr16:23629996 [GRCh38]
Chr16:23641317 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.734_735dup (p.Thr246fs) |
duplication |
Familial cancer of breast [RCV003451272]|Hereditary cancer-predisposing syndrome [RCV000573756] |
Chr16:23635810..23635811 [GRCh38]
Chr16:23647131..23647132 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.839del (p.Asn280fs) |
deletion |
Familial cancer of breast [RCV001865724]|Hereditary cancer-predisposing syndrome [RCV000573816]|PALB2-related disorder [RCV004530600]|not provided [RCV001030181] |
Chr16:23635707 [GRCh38]
Chr16:23647028 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1461C>A (p.Val487=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571212] |
Chr16:23635085 [GRCh38]
Chr16:23646406 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.860T>C (p.Val287Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000558642]|Hereditary cancer-predisposing syndrome [RCV001805159] |
Chr16:23635686 [GRCh38]
Chr16:23647007 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.313G>C (p.Glu105Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001240857]|Hereditary cancer-predisposing syndrome [RCV000573997] |
Chr16:23636233 [GRCh38]
Chr16:23647554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2911G>C (p.Gly971Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000700356]|Hereditary cancer-predisposing syndrome [RCV000574054] |
Chr16:23623054 [GRCh38]
Chr16:23634375 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.472del (p.Gln158fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003278570] |
Chr16:23636074 [GRCh38]
Chr16:23647395 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.152C>A (p.Thr51Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278579] |
Chr16:23637909 [GRCh38]
Chr16:23649230 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2680G>C (p.Val894Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278580] |
Chr16:23626304 [GRCh38]
Chr16:23637625 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635666]|Hereditary cancer-predisposing syndrome [RCV001010492]|not provided [RCV000586513] |
Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2874A>G (p.Gln958=) |
single nucleotide variant |
Familial cancer of breast [RCV002060404]|Hereditary cancer-predisposing syndrome [RCV000571596] |
Chr16:23623091 [GRCh38]
Chr16:23634412 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) |
deletion |
Familial cancer of breast [RCV001067572]|Hereditary cancer-predisposing syndrome [RCV000571605]|not provided [RCV003320695] |
Chr16:23634869 [GRCh38]
Chr16:23646190 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1480A>C (p.Thr494Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003767129]|Hereditary cancer-predisposing syndrome [RCV000571709] |
Chr16:23635066 [GRCh38]
Chr16:23646387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.192A>G (p.Ser64=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574144] |
Chr16:23637869 [GRCh38]
Chr16:23649190 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000635620]|Hereditary cancer-predisposing syndrome [RCV003162841] |
Chr16:23626260 [GRCh38]
Chr16:23637581 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2120C>T (p.Pro707Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635623]|Hereditary cancer-predisposing syndrome [RCV001014519] |
Chr16:23630034 [GRCh38]
Chr16:23641355 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.899del (p.Thr300fs) |
deletion |
Familial cancer of breast [RCV000635627] |
Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635650] |
Chr16:23623096 [GRCh38]
Chr16:23634417 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2834+5G>A |
single nucleotide variant |
Familial cancer of breast [RCV000635658]|Hereditary cancer-predisposing syndrome [RCV001016729]|PALB2-related disorder [RCV004723006] |
Chr16:23624004 [GRCh38]
Chr16:23635325 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1908G>C (p.Glu636Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000635664]|Hereditary cancer-predisposing syndrome [RCV002406361] |
Chr16:23630246 [GRCh38]
Chr16:23641567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1988G>T (p.Arg663Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635668]|Hereditary cancer-predisposing syndrome [RCV001013921] |
Chr16:23630166 [GRCh38]
Chr16:23641487 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.921A>G (p.Lys307=) |
single nucleotide variant |
Familial cancer of breast [RCV000635669] |
Chr16:23635625 [GRCh38]
Chr16:23646946 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2137C>T (p.Pro713Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635680]|Hereditary cancer-predisposing syndrome [RCV002424395] |
Chr16:23630017 [GRCh38]
Chr16:23641338 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2531T>G (p.Leu844Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635685] |
Chr16:23629259 [GRCh38]
Chr16:23640580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635687]|Hereditary cancer-predisposing syndrome [RCV002334080]|not provided [RCV001702535] |
Chr16:23603497 [GRCh38]
Chr16:23614818 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2673_2674delinsGA (p.Cys891_Glu892delinsTrpLys) |
indel |
Familial cancer of breast [RCV000635713] |
Chr16:23626310..23626311 [GRCh38]
Chr16:23637631..23637632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-5C>G |
single nucleotide variant |
Familial cancer of breast [RCV000635740] |
Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2207C>T (p.Ala736Val) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003492122]|Familial cancer of breast [RCV000635751]|Hereditary cancer-predisposing syndrome [RCV002424397] |
Chr16:23629947 [GRCh38]
Chr16:23641268 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.841A>G (p.Ile281Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635759]|Hereditary cancer-predisposing syndrome [RCV001017739] |
Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3415A>T (p.Ile1139Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000635781]|Hereditary cancer-predisposing syndrome [RCV001182081] |
Chr16:23603605 [GRCh38]
Chr16:23614926 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000635784]|Familial cancer of breast [RCV002492981]|Hereditary cancer-predisposing syndrome [RCV001016626]|not provided [RCV003156270] |
Chr16:23624039 [GRCh38]
Chr16:23635360 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635787]|Hereditary cancer-predisposing syndrome [RCV001190673] |
Chr16:23630170 [GRCh38]
Chr16:23641491 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000635803]|Hereditary cancer-predisposing syndrome [RCV002424398] |
Chr16:23629809 [GRCh38]
Chr16:23641130 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2832C>G (p.Ile944Met) |
single nucleotide variant |
Familial cancer of breast [RCV000635805]|Hereditary cancer-predisposing syndrome [RCV002438683] |
Chr16:23624011 [GRCh38]
Chr16:23635332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.388C>A (p.His130Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000635806] |
Chr16:23636158 [GRCh38]
Chr16:23647479 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635807]|Fanconi anemia complementation group N [RCV003133422]|Hereditary cancer-predisposing syndrome [RCV001014983]|not provided [RCV001030292] |
Chr16:23629887 [GRCh38]
Chr16:23641208 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3110T>C (p.Ile1037Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000693855]|Hereditary cancer-predisposing syndrome [RCV000571745] |
Chr16:23621365 [GRCh38]
Chr16:23632686 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000635737]|Hereditary cancer-predisposing syndrome [RCV000571848]|not provided [RCV000756459] |
Chr16:23603520 [GRCh38]
Chr16:23614841 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1183del (p.Ser395fs) |
deletion |
Familial cancer of breast [RCV001388322]|Hereditary cancer-predisposing syndrome [RCV000574408]|not provided [RCV000657391] |
Chr16:23635363 [GRCh38]
Chr16:23646684 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.280G>C (p.Glu94Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001853787]|Hereditary cancer-predisposing syndrome [RCV000566283] |
Chr16:23636266 [GRCh38]
Chr16:23647587 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.882A>G (p.Lys294=) |
single nucleotide variant |
Familial cancer of breast [RCV001479285]|Hereditary cancer-predisposing syndrome [RCV000777324]|not specified [RCV000601015] |
Chr16:23635664 [GRCh38]
Chr16:23646985 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1874A>G (p.Glu625Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000635838] |
Chr16:23630280 [GRCh38]
Chr16:23641601 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635841]|Hereditary cancer-predisposing syndrome [RCV002388041]|not provided [RCV001591416] |
Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2612A>T (p.Asp871Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635870]|Hereditary cancer-predisposing syndrome [RCV002438684] |
Chr16:23626372 [GRCh38]
Chr16:23637693 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3104T>C (p.Ile1035Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000635879]|Hereditary cancer-predisposing syndrome [RCV001018654] |
Chr16:23621371 [GRCh38]
Chr16:23632692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2150A>T (p.Asp717Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635881]|Hereditary cancer-predisposing syndrome [RCV002424399] |
Chr16:23630004 [GRCh38]
Chr16:23641325 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.846A>T (p.Arg282Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635901]|Hereditary cancer-predisposing syndrome [RCV002448970] |
Chr16:23635700 [GRCh38]
Chr16:23647021 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) |
deletion |
Familial cancer of breast [RCV000635908]|Familial cancer of breast [RCV002507076]|not provided [RCV000657454] |
Chr16:23629723..23629724 [GRCh38]
Chr16:23641044..23641045 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1362del (p.Asn455fs) |
deletion |
Familial cancer of breast [RCV000635921] |
Chr16:23635184 [GRCh38]
Chr16:23646505 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.821C>G (p.Thr274Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000635926]|Hereditary cancer-predisposing syndrome [RCV002406364] |
Chr16:23635725 [GRCh38]
Chr16:23647046 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.932A>G (p.Lys311Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635946]|Hereditary cancer-predisposing syndrome [RCV001019174]|not provided [RCV001030189]|not specified [RCV001194138] |
Chr16:23635614 [GRCh38]
Chr16:23646935 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2733C>A (p.Thr911=) |
single nucleotide variant |
Familial cancer of breast [RCV001426534]|Hereditary cancer-predisposing syndrome [RCV000772827] |
Chr16:23626251 [GRCh38]
Chr16:23637572 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3009C>T (p.Asn1003=) |
single nucleotide variant |
Familial cancer of breast [RCV000635971] |
Chr16:23621466 [GRCh38]
Chr16:23632787 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.244T>C (p.Leu82=) |
single nucleotide variant |
Familial cancer of breast [RCV000635996] |
Chr16:23636302 [GRCh38]
Chr16:23647623 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3351-6T>C |
single nucleotide variant |
Familial cancer of breast [RCV000636000]|Hereditary cancer-predisposing syndrome [RCV001525532] |
Chr16:23603675 [GRCh38]
Chr16:23614996 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.792C>T (p.His264=) |
single nucleotide variant |
Familial cancer of breast [RCV000636001]|Hereditary cancer-predisposing syndrome [RCV002420708] |
Chr16:23635754 [GRCh38]
Chr16:23647075 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.164A>T (p.Gln55Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000559691] |
Chr16:23637897 [GRCh38]
Chr16:23649218 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2682A>G (p.Val894=) |
single nucleotide variant |
Familial cancer of breast [RCV002526793]|Hereditary cancer-predisposing syndrome [RCV000572031] |
Chr16:23626302 [GRCh38]
Chr16:23637623 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635862]|Hereditary cancer-predisposing syndrome [RCV000574476] |
Chr16:23636235 [GRCh38]
Chr16:23647556 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.109-5T>C |
single nucleotide variant |
Familial cancer of breast [RCV001030121]|Hereditary cancer-predisposing syndrome [RCV001017270]|not provided [RCV001706691] |
Chr16:23637957 [GRCh38]
Chr16:23649278 [GRCh37]
Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.109-10TC[3] |
microsatellite |
Familial cancer of breast [RCV000636014] |
Chr16:23637958..23637959 [GRCh38]
Chr16:23649279..23649280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+10G>A |
single nucleotide variant |
Familial cancer of breast [RCV000636017] |
Chr16:23637840 [GRCh38]
Chr16:23649161 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1686G>A (p.Gly562=) |
single nucleotide variant |
Familial cancer of breast [RCV000636034]|Hereditary cancer-predisposing syndrome [RCV001012708] |
Chr16:23630468 [GRCh38]
Chr16:23641789 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+8G>A |
single nucleotide variant |
Familial cancer of breast [RCV000636047]|Hereditary cancer-predisposing syndrome [RCV001182085] |
Chr16:23626228 [GRCh38]
Chr16:23637549 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635674]|Hereditary cancer-predisposing syndrome [RCV000572069] |
Chr16:23623012 [GRCh38]
Chr16:23634333 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.513G>A (p.Leu171=) |
single nucleotide variant |
Familial cancer of breast [RCV001504546]|Hereditary cancer-predisposing syndrome [RCV000574703] |
Chr16:23636033 [GRCh38]
Chr16:23647354 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3515T>C (p.Leu1172Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001853729]|Hereditary cancer-predisposing syndrome [RCV000574725] |
Chr16:23603505 [GRCh38]
Chr16:23614826 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2038G>A (p.Gly680Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000541413] |
Chr16:23630116 [GRCh38]
Chr16:23641437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+2T>G |
single nucleotide variant |
Familial cancer of breast [RCV003316941] |
Chr16:23638068 [GRCh38]
Chr16:23649389 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.945_954del (p.Pro316fs) |
deletion |
Familial cancer of breast [RCV003316967] |
Chr16:23635592..23635601 [GRCh38]
Chr16:23646913..23646922 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) |
single nucleotide variant |
Breast carcinoma [RCV000626962]|Familial cancer of breast [RCV000815815]|Hereditary cancer-predisposing syndrome [RCV001012327]|Malignant tumor of breast [RCV001356890]|not provided [RCV003478331] |
Chr16:23634949 [GRCh38]
Chr16:23646270 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2126A>G (p.Asn709Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572395] |
Chr16:23630028 [GRCh38]
Chr16:23641349 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2410T>C (p.Ser804Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572399] |
Chr16:23629744 [GRCh38]
Chr16:23641065 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000572411] |
Chr16:23629978..23629979 [GRCh38]
Chr16:23641299..23641300 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3339G>A (p.Gly1113=) |
single nucleotide variant |
Familial cancer of breast [RCV001484965]|Hereditary cancer-predisposing syndrome [RCV000574778] |
Chr16:23607875 [GRCh38]
Chr16:23619196 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1182T>C (p.His394=) |
single nucleotide variant |
Familial cancer of breast [RCV001469719]|Hereditary cancer-predisposing syndrome [RCV004023845] |
Chr16:23635364 [GRCh38]
Chr16:23646685 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3300T>A (p.Thr1100=) |
single nucleotide variant |
Familial cancer of breast [RCV002060437]|Hereditary cancer-predisposing syndrome [RCV000574833] |
Chr16:23607914 [GRCh38]
Chr16:23619235 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs) |
deletion |
Familial cancer of breast [RCV003316978] |
Chr16:23635113..23635129 [GRCh38]
Chr16:23646434..23646450 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.295dup (p.Thr99fs) |
duplication |
Familial cancer of breast [RCV003317001] |
Chr16:23636250..23636251 [GRCh38]
Chr16:23647571..23647572 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.603T>A (p.Ser201Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000686735]|Familial cancer of breast [RCV002491124]|Hereditary cancer-predisposing syndrome [RCV000569806]|not specified [RCV002271530] |
Chr16:23635943 [GRCh38]
Chr16:23647264 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2240C>G (p.Ser747Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000533900]|Hereditary cancer-predisposing syndrome [RCV001189375] |
Chr16:23629914 [GRCh38]
Chr16:23641235 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.416A>G (p.Gln139Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001352086]|Hereditary cancer-predisposing syndrome [RCV000569883]|not provided [RCV002293463] |
Chr16:23636130 [GRCh38]
Chr16:23647451 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.21G>C (p.Lys7Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000556948] |
Chr16:23641137 [GRCh38]
Chr16:23652458 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635800]|Familial cancer of breast [RCV000765275]|Hereditary cancer-predisposing syndrome [RCV000570239] |
Chr16:23635206 [GRCh38]
Chr16:23646527 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.887T>G (p.Met296Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000534516]|Hereditary cancer-predisposing syndrome [RCV002377044]|not provided [RCV004767346] |
Chr16:23635659 [GRCh38]
Chr16:23646980 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000534542]|Familial cancer of breast [RCV002490995] |
Chr16:23634918 [GRCh38]
Chr16:23646239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.228A>G (p.Ile76Met) |
single nucleotide variant |
Familial cancer of breast [RCV000534687]|not provided [RCV003237908] |
Chr16:23636318 [GRCh38]
Chr16:23647639 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.875A>G (p.Gln292Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002526837]|Hereditary cancer-predisposing syndrome [RCV000570560] |
Chr16:23635671 [GRCh38]
Chr16:23646992 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3011A>C (p.Gln1004Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003607322]|Hereditary cancer-predisposing syndrome [RCV000570568] |
Chr16:23621464 [GRCh38]
Chr16:23632785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.206A>C (p.His69Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003500551]|Hereditary cancer-predisposing syndrome [RCV000561540]|not provided [RCV004696946]|not specified [RCV004596269] |
Chr16:23637855 [GRCh38]
Chr16:23649176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2079T>C (p.His693=) |
single nucleotide variant |
Familial cancer of breast [RCV000907014]|Hereditary cancer-predisposing syndrome [RCV000567037]|not specified [RCV000611016] |
Chr16:23630075 [GRCh38]
Chr16:23641396 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+13C>A |
single nucleotide variant |
Familial cancer of breast [RCV002064368]|Familial cancer of breast [RCV002506479]|Hereditary cancer-predisposing syndrome [RCV001180326]|not specified [RCV000602761] |
Chr16:23623996 [GRCh38]
Chr16:23635317 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1485del (p.Asp496fs) |
deletion |
Familial cancer of breast [RCV000576705]|Hereditary cancer-predisposing syndrome [RCV002395497] |
Chr16:23635061 [GRCh38]
Chr16:23646382 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) |
deletion |
Familial cancer of breast [RCV000576469]|not provided [RCV000657317] |
Chr16:23629691..23629698 [GRCh38]
Chr16:23641012..23641019 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.444del (p.Lys149fs) |
deletion |
Familial cancer of breast [RCV000576472]|Hereditary cancer-predisposing syndrome [RCV002330992] |
Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000576557] |
Chr16:23635680 [GRCh38]
Chr16:23647001 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2440G>A (p.Glu814Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003301004] |
Chr16:23629714 [GRCh38]
Chr16:23641035 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3039A>G (p.Ile1013Met) |
single nucleotide variant |
Familial cancer of breast [RCV003607577]|Hereditary cancer-predisposing syndrome [RCV003301010] |
Chr16:23621436 [GRCh38]
Chr16:23632757 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1968A>T (p.Pro656=) |
single nucleotide variant |
Familial cancer of breast [RCV003607337]|not specified [RCV000607641] |
Chr16:23630186 [GRCh38]
Chr16:23641507 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1164T>C (p.Pro388=) |
single nucleotide variant |
Familial cancer of breast [RCV001395018]|Familial cancer of breast [RCV002506486]|Hereditary cancer-predisposing syndrome [RCV001186248]|not specified [RCV000602541] |
Chr16:23635382 [GRCh38]
Chr16:23646703 [GRCh37]
Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_024675.4(PALB2):c.2333G>A (p.Ser778Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278569] |
Chr16:23629821 [GRCh38]
Chr16:23641142 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3233G>A (p.Cys1078Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278574] |
Chr16:23607981 [GRCh38]
Chr16:23619302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3235G>A (p.Ala1079Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278576] |
Chr16:23607979 [GRCh38]
Chr16:23619300 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2464C>A (p.Gln822Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278577] |
Chr16:23629690 [GRCh38]
Chr16:23641011 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3074dup (p.Leu1026fs) |
duplication |
Familial cancer of breast [RCV003455791]|Hereditary cancer-predisposing syndrome [RCV003278578] |
Chr16:23621400..23621401 [GRCh38]
Chr16:23632721..23632722 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2162C>G (p.Thr721Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278582] |
Chr16:23629992 [GRCh38]
Chr16:23641313 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2420C>G (p.Pro807Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278588] |
Chr16:23629734 [GRCh38]
Chr16:23641055 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1903G>A (p.Val635Met) |
single nucleotide variant |
Familial cancer of breast [RCV000533092]|Hereditary cancer-predisposing syndrome [RCV000774636] |
Chr16:23630251 [GRCh38]
Chr16:23641572 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2938del (p.Ser980fs) |
deletion |
Familial cancer of breast [RCV000699114]|Hereditary cancer-predisposing syndrome [RCV000569592]|not provided [RCV000657531] |
Chr16:23623027 [GRCh38]
Chr16:23634348 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.336C>T (p.Gly112=) |
single nucleotide variant |
Familial cancer of breast [RCV000939160]|Hereditary cancer-predisposing syndrome [RCV000569617]|PALB2-related disorder [RCV004543265] |
Chr16:23636210 [GRCh38]
Chr16:23647531 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3444T>C (p.Thr1148=) |
single nucleotide variant |
Familial cancer of breast [RCV001472005]|Hereditary cancer-predisposing syndrome [RCV004649228]|not specified [RCV000609434] |
Chr16:23603576 [GRCh38]
Chr16:23614897 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2809G>A (p.Gly937Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000819797]|Hereditary cancer-predisposing syndrome [RCV000571752] |
Chr16:23624034 [GRCh38]
Chr16:23635355 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+10C>T |
single nucleotide variant |
not specified [RCV000605330] |
Chr16:23621352 [GRCh38]
Chr16:23632673 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1083T>C (p.Thr361=) |
single nucleotide variant |
Familial cancer of breast [RCV001441102]|not specified [RCV000609674] |
Chr16:23635463 [GRCh38]
Chr16:23646784 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+8dup |
duplication |
not specified [RCV000615659] |
Chr16:23638060..23638061 [GRCh38]
Chr16:23649381..23649382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.129G>T (p.Lys43Asn) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV003150278]|Familial cancer of breast [RCV000696505]|Hereditary cancer-predisposing syndrome [RCV000571771]|PALB2-related disorder [RCV004740332] |
Chr16:23637932 [GRCh38]
Chr16:23649253 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2411C>G (p.Ser804Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000540803]|Hereditary cancer-predisposing syndrome [RCV001015450] |
Chr16:23629743 [GRCh38]
Chr16:23641064 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002491125]|Hereditary cancer-predisposing syndrome [RCV000574357]|not specified [RCV001821670] |
Chr16:23630352 [GRCh38]
Chr16:23641673 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-12T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607334]|not specified [RCV000612638] |
Chr16:23629287 [GRCh38]
Chr16:23640608 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3493T>C (p.Ser1165Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000559715]|Hereditary cancer-predisposing syndrome [RCV001020438] |
Chr16:23603527 [GRCh38]
Chr16:23614848 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-5C>A |
single nucleotide variant |
Familial cancer of breast [RCV000559855] |
Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1664A>G (p.Lys555Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000692233]|Hereditary cancer-predisposing syndrome [RCV000574386] |
Chr16:23634882 [GRCh38]
Chr16:23646203 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.932A>C (p.Lys311Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000540940] |
Chr16:23635614 [GRCh38]
Chr16:23646935 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1962T>C (p.Ile654=) |
single nucleotide variant |
Familial cancer of breast [RCV000975717]|Hereditary cancer-predisposing syndrome [RCV000574472] |
Chr16:23630192 [GRCh38]
Chr16:23641513 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-16A>G |
single nucleotide variant |
Familial cancer of breast [RCV003500582]|not specified [RCV000601621] |
Chr16:23629291 [GRCh38]
Chr16:23640612 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs) |
duplication |
Familial cancer of breast [RCV003317000] |
Chr16:23635134..23635135 [GRCh38]
Chr16:23646455..23646456 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3076C>T (p.Leu1026=) |
single nucleotide variant |
Familial cancer of breast [RCV001435662]|Hereditary cancer-predisposing syndrome [RCV000777569]|not specified [RCV000609935] |
Chr16:23621399 [GRCh38]
Chr16:23632720 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2316T>C (p.Asp772=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572135] |
Chr16:23629838 [GRCh38]
Chr16:23641159 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568858] |
Chr16:23624056 [GRCh38]
Chr16:23635377 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2448C>A (p.Phe816Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002298671]|Hereditary cancer-predisposing syndrome [RCV000568875] |
Chr16:23629706 [GRCh38]
Chr16:23641027 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1942_1948delinsA (p.Leu648_Glu650delinsLys) |
indel |
Familial cancer of breast [RCV000816487]|Hereditary cancer-predisposing syndrome [RCV000569464]|not provided [RCV004773003] |
Chr16:23630206..23630212 [GRCh38]
Chr16:23641527..23641533 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1476G>T (p.Gly492=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572319]|not specified [RCV002268180] |
Chr16:23635070 [GRCh38]
Chr16:23646391 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.840C>T (p.Asn280=) |
single nucleotide variant |
Familial cancer of breast [RCV000537730]|Hereditary cancer-predisposing syndrome [RCV000774640] |
Chr16:23635706 [GRCh38]
Chr16:23647027 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) |
deletion |
Familial cancer of breast [RCV001030332]|Hereditary breast ovarian cancer syndrome [RCV000589273]|Hereditary cancer-predisposing syndrome [RCV001016046]|not provided [RCV003478324] |
Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3210C>T (p.Leu1070=) |
single nucleotide variant |
Familial cancer of breast [RCV001463651]|Hereditary cancer-predisposing syndrome [RCV002325182]|not specified [RCV000607440] |
Chr16:23608004 [GRCh38]
Chr16:23619325 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572493] |
Chr16:23637846 [GRCh38]
Chr16:23649167 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1479C>T (p.Pro493=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572605] |
Chr16:23635067 [GRCh38]
Chr16:23646388 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.834A>G (p.Leu278=) |
single nucleotide variant |
Familial cancer of breast [RCV002063116]|Hereditary cancer-predisposing syndrome [RCV002438565]|not specified [RCV000602378] |
Chr16:23635712 [GRCh38]
Chr16:23647033 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1393A>G (p.Met465Val) |
single nucleotide variant |
Familial cancer of breast [RCV000556420] |
Chr16:23635153 [GRCh38]
Chr16:23646474 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569907] |
Chr16:23623134 [GRCh38]
Chr16:23634455 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002289778]|Hereditary cancer-predisposing syndrome [RCV000569909] |
Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001853819]|Hereditary cancer-predisposing syndrome [RCV000569937] |
Chr16:23634898 [GRCh38]
Chr16:23646219 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1684+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV003485609]|Hereditary cancer-predisposing syndrome [RCV000572683]|not provided [RCV002221556] |
Chr16:23634861 [GRCh38]
Chr16:23646182 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2533C>T (p.Pro845Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000560857]|Hereditary cancer-predisposing syndrome [RCV000771396] |
Chr16:23629257 [GRCh38]
Chr16:23640578 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1053A>G (p.Thr351=) |
single nucleotide variant |
Familial cancer of breast [RCV000560884]|Hereditary cancer-predisposing syndrome [RCV004023844] |
Chr16:23635493 [GRCh38]
Chr16:23646814 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV002530254]|Hereditary cancer-predisposing syndrome [RCV000569963] |
Chr16:23621480 [GRCh38]
Chr16:23632801 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2834+1G>C |
single nucleotide variant |
Familial cancer of breast [RCV001858210]|Hereditary cancer-predisposing syndrome [RCV000569964]|not provided [RCV003320696] |
Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs) |
indel |
Familial cancer of breast [RCV003451259]|Hereditary cancer-predisposing syndrome [RCV000570053] |
Chr16:23635469..23635487 [GRCh38]
Chr16:23646790..23646808 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001039556]|Hereditary cancer-predisposing syndrome [RCV000570108] |
Chr16:23635303 [GRCh38]
Chr16:23646624 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2698G>A (p.Ala900Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000538630]|Hereditary cancer-predisposing syndrome [RCV001016340] |
Chr16:23626286 [GRCh38]
Chr16:23637607 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1972G>A (p.Glu658Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000534427]|Hereditary cancer-predisposing syndrome [RCV003362832] |
Chr16:23630182 [GRCh38]
Chr16:23641503 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3358G>A (p.Glu1120Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001226156]|Hereditary cancer-predisposing syndrome [RCV000573002] |
Chr16:23603662 [GRCh38]
Chr16:23614983 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635756]|Hereditary breast ovarian cancer syndrome [RCV003987611]|Hereditary cancer-predisposing syndrome [RCV000573011] |
Chr16:23635864 [GRCh38]
Chr16:23647185 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.442AAG[1] (p.Lys149del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000570602] |
Chr16:23636099..23636101 [GRCh38]
Chr16:23647420..23647422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2668G>A (p.Ala890Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001350668]|Hereditary cancer-predisposing syndrome [RCV000573129] |
Chr16:23626316 [GRCh38]
Chr16:23637637 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3343G>T (p.Ala1115Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003296464] |
Chr16:23607871 [GRCh38]
Chr16:23619192 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.566G>T (p.Arg189Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000535087]|Hereditary cancer-predisposing syndrome [RCV001189068] |
Chr16:23635980 [GRCh38]
Chr16:23647301 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1109A>G (p.Gln370Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000557818] |
Chr16:23635437 [GRCh38]
Chr16:23646758 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.554A>C (p.Lys185Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573269] |
Chr16:23635992 [GRCh38]
Chr16:23647313 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3369G>A (p.Val1123=) |
single nucleotide variant |
Familial cancer of breast [RCV000539325]|Hereditary cancer-predisposing syndrome [RCV000582196]|not provided [RCV001358500]|not specified [RCV004767345] |
Chr16:23603651 [GRCh38]
Chr16:23614972 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1238C>T (p.Thr413Ile) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315482] |
Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000573428] |
Chr16:23635537..23635538 [GRCh38]
Chr16:23646858..23646859 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2713C>A (p.Gln905Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000539422]|Hereditary cancer-predisposing syndrome [RCV003159786] |
Chr16:23626271 [GRCh38]
Chr16:23637592 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2075A>G (p.Gln692Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607311]|Hereditary cancer-predisposing syndrome [RCV000573473] |
Chr16:23630079 [GRCh38]
Chr16:23641400 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.936T>C (p.Ser312=) |
single nucleotide variant |
Familial cancer of breast [RCV001415492]|Hereditary cancer-predisposing syndrome [RCV000570984]|PALB2-related disorder [RCV004530601]|not provided [RCV001356051] |
Chr16:23635610 [GRCh38]
Chr16:23646931 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.639del (p.Thr214fs) |
deletion |
Familial cancer of breast [RCV000810538]|Hereditary cancer-predisposing syndrome [RCV000573531] |
Chr16:23635907 [GRCh38]
Chr16:23647228 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1623G>C (p.Arg541Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001858132]|Hereditary cancer-predisposing syndrome [RCV000573547]|not provided [RCV002509442] |
Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) |
duplication |
Familial cancer of breast [RCV000532289] |
Chr16:23622998..23622999 [GRCh38]
Chr16:23634319..23634320 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.874C>T (p.Gln292Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455798]|Hereditary breast ovarian cancer syndrome [RCV003317953] |
Chr16:23635672 [GRCh38]
Chr16:23646993 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs) |
microsatellite |
Familial cancer of breast [RCV002526836]|Hereditary cancer-predisposing syndrome [RCV000571165]|not provided [RCV000657320] |
Chr16:23630410..23630413 [GRCh38]
Chr16:23641731..23641734 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2774T>C (p.Val925Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000558592]|Familial cancer of breast [RCV002490996]|Hereditary cancer-predisposing syndrome [RCV001016552] |
Chr16:23624069 [GRCh38]
Chr16:23635390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2164G>A (p.Asp722Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573674] |
Chr16:23629990 [GRCh38]
Chr16:23641311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2262T>C (p.Thr754=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573712] |
Chr16:23629892 [GRCh38]
Chr16:23641213 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2081C>A (p.Thr694Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001069620]|Hereditary cancer-predisposing syndrome [RCV000573805] |
Chr16:23630073 [GRCh38]
Chr16:23641394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1396T>C (p.Ser466Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311297] |
Chr16:23635150 [GRCh38]
Chr16:23646471 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1300G>A (p.Asp434Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311305] |
Chr16:23635246 [GRCh38]
Chr16:23646567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1446C>G (p.Leu482=) |
single nucleotide variant |
Familial cancer of breast [RCV001393327]|Hereditary cancer-predisposing syndrome [RCV001011624]|Malignant tumor of breast [RCV001357437]|not specified [RCV000611780] |
Chr16:23635100 [GRCh38]
Chr16:23646421 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) |
single nucleotide variant |
Familial cancer of breast [RCV000536109]|Hereditary cancer-predisposing syndrome [RCV001190817]|not provided [RCV001580512]|not specified [RCV002465701] |
Chr16:23603502 [GRCh38]
Chr16:23614823 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1356C>T (p.Asn452=) |
single nucleotide variant |
Familial cancer of breast [RCV000536365]|Hereditary cancer-predisposing syndrome [RCV002384086] |
Chr16:23635190 [GRCh38]
Chr16:23646511 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2107T>C (p.Leu703=) |
single nucleotide variant |
Familial cancer of breast [RCV001404698]|Hereditary cancer-predisposing syndrome [RCV000573818] |
Chr16:23630047 [GRCh38]
Chr16:23641368 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3376C>T (p.His1126Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311302] |
Chr16:23603644 [GRCh38]
Chr16:23614965 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.435C>T (p.Ser145=) |
single nucleotide variant |
Familial cancer of breast [RCV003607586]|Hereditary cancer-predisposing syndrome [RCV003311303] |
Chr16:23636111 [GRCh38]
Chr16:23647432 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.250A>G (p.Ile84Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607587]|Hereditary cancer-predisposing syndrome [RCV003311307] |
Chr16:23636296 [GRCh38]
Chr16:23647617 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2466G>A (p.Gln822=) |
single nucleotide variant |
Familial cancer of breast [RCV001431344]|Hereditary cancer-predisposing syndrome [RCV002456341]|not specified [RCV000604236] |
Chr16:23629688 [GRCh38]
Chr16:23641009 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1974A>T (p.Glu658Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571480] |
Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-36G>C |
single nucleotide variant |
not specified [RCV000604077] |
Chr16:23641193 [GRCh38]
Chr16:23652514 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+6G>C |
single nucleotide variant |
Familial cancer of breast [RCV001860267]|not specified [RCV000603533] |
Chr16:23641104 [GRCh38]
Chr16:23652425 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000635602]|Hereditary cancer-predisposing syndrome [RCV002438681]|not provided [RCV001796150] |
Chr16:23622997 [GRCh38]
Chr16:23634318 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2587-7G>A |
single nucleotide variant |
Familial cancer of breast [RCV000635604]|Hereditary cancer-predisposing syndrome [RCV003584684]|not provided [RCV001558518] |
Chr16:23626404 [GRCh38]
Chr16:23637725 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.212A>G (p.Glu71Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000635608]|Hereditary cancer-predisposing syndrome [RCV003584685] |
Chr16:23636334 [GRCh38]
Chr16:23647655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2737C>T (p.His913Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635631] |
Chr16:23626247 [GRCh38]
Chr16:23637568 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2736G>C (p.Trp912Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000635639] |
Chr16:23626248 [GRCh38]
Chr16:23637569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2943T>G (p.Ser981Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635644]|Hereditary cancer-predisposing syndrome [RCV004649234] |
Chr16:23623022 [GRCh38]
Chr16:23634343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.325C>G (p.Pro109Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635678] |
Chr16:23636221 [GRCh38]
Chr16:23647542 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2650G>C (p.Glu884Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000635681] |
Chr16:23626334 [GRCh38]
Chr16:23637655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2906T>A (p.Val969Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635682] |
Chr16:23623059 [GRCh38]
Chr16:23634380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.338del (p.Pro113fs) |
deletion |
Familial cancer of breast [RCV000635690] |
Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3163T>C (p.Tyr1055His) |
single nucleotide variant |
Familial cancer of breast [RCV000635694]|Hereditary cancer-predisposing syndrome [RCV002325228] |
Chr16:23614042 [GRCh38]
Chr16:23625363 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000635705]|Familial cancer of breast [RCV002492979]|Hereditary cancer-predisposing syndrome [RCV000771431]|not provided [RCV001775933] |
Chr16:23623104 [GRCh38]
Chr16:23634425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.116A>T (p.Gln39Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635709] |
Chr16:23637945 [GRCh38]
Chr16:23649266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2603G>A (p.Cys868Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635726]|Hereditary cancer-predisposing syndrome [RCV002424396] |
Chr16:23626381 [GRCh38]
Chr16:23637702 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635736] |
Chr16:23626290 [GRCh38]
Chr16:23637611 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.137A>G (p.His46Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635748]|Hereditary cancer-predisposing syndrome [RCV001011256]|not provided [RCV001527324] |
Chr16:23637924 [GRCh38]
Chr16:23649245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635754]|Familial cancer of breast [RCV002492980]|Hereditary cancer-predisposing syndrome [RCV000776706] |
Chr16:23624066 [GRCh38]
Chr16:23635387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3463T>C (p.Ser1155Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635762] |
Chr16:23603557 [GRCh38]
Chr16:23614878 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3022C>A (p.Pro1008Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000635767] |
Chr16:23621453 [GRCh38]
Chr16:23632774 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2934TAG[1] (p.Ser981del) |
microsatellite |
Familial cancer of breast [RCV000635772] |
Chr16:23623026..23623028 [GRCh38]
Chr16:23634347..23634349 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3415A>C (p.Ile1139Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000635774] |
Chr16:23603605 [GRCh38]
Chr16:23614926 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3495G>C (p.Ser1165=) |
single nucleotide variant |
Familial cancer of breast [RCV003607335]|Hereditary cancer-predisposing syndrome [RCV001020441]|not provided [RCV001722601] |
Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635779]|Hereditary cancer-predisposing syndrome [RCV000709389] |
Chr16:23637904 [GRCh38]
Chr16:23649225 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1070C>G (p.Ser357Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000635780] |
Chr16:23635476 [GRCh38]
Chr16:23646797 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.926T>G (p.Ile309Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635796]|Hereditary cancer-predisposing syndrome [RCV001189067] |
Chr16:23635620 [GRCh38]
Chr16:23646941 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2809G>C (p.Gly937Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635798]|Hereditary cancer-predisposing syndrome [RCV001525839] |
Chr16:23624034 [GRCh38]
Chr16:23635355 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.693del (p.Gly232fs) |
deletion |
Familial cancer of breast [RCV000635811]|Hereditary cancer-predisposing syndrome [RCV004025467]|not provided [RCV004721508] |
Chr16:23635853 [GRCh38]
Chr16:23647174 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.526C>G (p.Leu176Val) |
single nucleotide variant |
Familial cancer of breast [RCV000635817]|Hereditary cancer-predisposing syndrome [RCV003162843] |
Chr16:23636020 [GRCh38]
Chr16:23647341 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000635825]|Hereditary cancer-predisposing syndrome [RCV004649235]|not provided [RCV003233767] |
Chr16:23634939 [GRCh38]
Chr16:23646260 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2068C>G (p.Gln690Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000635837]|Hereditary cancer-predisposing syndrome [RCV002420707] |
Chr16:23630086 [GRCh38]
Chr16:23641407 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000635848]|not provided [RCV000760341] |
Chr16:23626334 [GRCh38]
Chr16:23637655 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000635883]|Hereditary cancer-predisposing syndrome [RCV000776383]|not provided [RCV004721509]|not specified [RCV001192766] |
Chr16:23622976 [GRCh38]
Chr16:23634297 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.623A>C (p.Asp208Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635893] |
Chr16:23635923 [GRCh38]
Chr16:23647244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2828A>C (p.Glu943Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000635900] |
Chr16:23624015 [GRCh38]
Chr16:23635336 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.845G>A (p.Arg282Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000635923]|Hereditary cancer-predisposing syndrome [RCV002448971] |
Chr16:23635701 [GRCh38]
Chr16:23647022 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001270994]|Familial cancer of breast [RCV000635924]|Hereditary cancer-predisposing syndrome [RCV003303005] |
Chr16:23603526 [GRCh38]
Chr16:23614847 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000635930]|Hereditary cancer-predisposing syndrome [RCV001012482]|not provided [RCV003441984] |
Chr16:23634918 [GRCh38]
Chr16:23646239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+6T>A |
single nucleotide variant |
Familial cancer of breast [RCV000635949] |
Chr16:23637844 [GRCh38]
Chr16:23649165 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2966_2968del (p.Val989del) |
deletion |
Familial cancer of breast [RCV000635952]|Hereditary cancer-predisposing syndrome [RCV004659133]|not provided [RCV001030359]|not specified [RCV003987634] |
Chr16:23622997..23622999 [GRCh38]
Chr16:23634318..23634320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.781C>A (p.His261Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000635958] |
Chr16:23635765 [GRCh38]
Chr16:23647086 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+8A>G |
single nucleotide variant |
Familial cancer of breast [RCV000635968]|Hereditary cancer-predisposing syndrome [RCV000776620] |
Chr16:23624001 [GRCh38]
Chr16:23635322 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2919A>T (p.Thr973=) |
single nucleotide variant |
Familial cancer of breast [RCV000635984] |
Chr16:23623046 [GRCh38]
Chr16:23634367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2544T>C (p.Asp848=) |
single nucleotide variant |
Familial cancer of breast [RCV000635986]|Hereditary cancer-predisposing syndrome [RCV000774628]|not provided [RCV003420106] |
Chr16:23629246 [GRCh38]
Chr16:23640567 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+6del |
deletion |
Familial cancer of breast [RCV000635989]|Hereditary cancer-predisposing syndrome [RCV001182084] |
Chr16:23634856 [GRCh38]
Chr16:23646177 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-3T>C |
single nucleotide variant |
Familial cancer of breast [RCV000635992]|Hereditary cancer-predisposing syndrome [RCV002404773]|not provided [RCV003128674] |
Chr16:23630472 [GRCh38]
Chr16:23641793 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.522A>G (p.Lys174=) |
single nucleotide variant |
Familial cancer of breast [RCV000636012]|Hereditary cancer-predisposing syndrome [RCV002343239] |
Chr16:23636024 [GRCh38]
Chr16:23647345 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1422T>C (p.Ser474=) |
single nucleotide variant |
Familial cancer of breast [RCV000636023] |
Chr16:23635124 [GRCh38]
Chr16:23646445 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+10T>G |
single nucleotide variant |
Familial cancer of breast [RCV000636026] |
Chr16:23623999 [GRCh38]
Chr16:23635320 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.508A>C (p.Arg170=) |
single nucleotide variant |
Familial cancer of breast [RCV000636043]|Hereditary cancer-predisposing syndrome [RCV000771725] |
Chr16:23636038 [GRCh38]
Chr16:23647359 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1242A>G (p.Arg414=) |
single nucleotide variant |
Familial cancer of breast [RCV000636048] |
Chr16:23635304 [GRCh38]
Chr16:23646625 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+8A>G |
single nucleotide variant |
Familial cancer of breast [RCV000636050] |
Chr16:23638062 [GRCh38]
Chr16:23649383 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2829G>A (p.Glu943=) |
single nucleotide variant |
Familial cancer of breast [RCV000636051] |
Chr16:23624014 [GRCh38]
Chr16:23635335 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2181T>C (p.Ala727=) |
single nucleotide variant |
Familial cancer of breast [RCV000636052]|Hereditary cancer-predisposing syndrome [RCV000777503] |
Chr16:23629973 [GRCh38]
Chr16:23641294 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23614774)_(23614996_?)dup |
duplication |
Familial cancer of breast [RCV000636058] |
Chr16:23603453..23603675 [GRCh38]
Chr16:23614774..23614996 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_024675.4(PALB2):c.114C>T (p.Ala38=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017482]|not specified [RCV000606064] |
Chr16:23637947 [GRCh38]
Chr16:23649268 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.94C>T (p.Leu32=) |
single nucleotide variant |
Familial cancer of breast [RCV002063006]|Hereditary cancer-predisposing syndrome [RCV002377254]|not specified [RCV000600799] |
Chr16:23638084 [GRCh38]
Chr16:23649405 [GRCh37]
Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.2834+16G>A |
single nucleotide variant |
Familial cancer of breast [RCV001868078]|not specified [RCV000606612] |
Chr16:23623993 [GRCh38]
Chr16:23635314 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs) |
deletion |
Familial cancer of breast [RCV003450523] |
Chr16:23603477..23603480 [GRCh38]
Chr16:23614798..23614801 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.841del (p.Ile281fs) |
deletion |
Familial cancer of breast [RCV003451587]|not provided [RCV000657298] |
Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.502dup (p.Ser168fs) |
duplication |
Familial cancer of breast [RCV000693352]|not provided [RCV000657443] |
Chr16:23636043..23636044 [GRCh38]
Chr16:23647364..23647365 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000662965]|Hereditary cancer-predisposing syndrome [RCV002386129]|not provided [RCV000657764] |
Chr16:23635258 [GRCh38]
Chr16:23646579 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.704C>A (p.Thr235Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000686690]|Hereditary cancer-predisposing syndrome [RCV001179355]|not provided [RCV004588106]|not specified [RCV002232849] |
Chr16:23635842 [GRCh38]
Chr16:23647163 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000701093] |
Chr16:23623105 [GRCh38]
Chr16:23634426 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.204del (p.Lys68fs) |
deletion |
Familial cancer of breast [RCV003451584]|Hereditary cancer-predisposing syndrome [RCV002422438]|not provided [RCV000657270] |
Chr16:23637857 [GRCh38]
Chr16:23649178 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.770del (p.Gly257fs) |
deletion |
Familial cancer of breast [RCV003451596]|not provided [RCV000657438] |
Chr16:23635776 [GRCh38]
Chr16:23647097 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer) |
deletion |
Familial cancer of breast [RCV000662937] |
Chr16:23630429 [GRCh38]
Chr16:23641750 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.117_120dup (p.Ala41fs) |
duplication |
not provided [RCV000657271] |
Chr16:23637940..23637941 [GRCh38]
Chr16:23649261..23649262 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1789del (p.Met597fs) |
deletion |
Familial cancer of breast [RCV001230455]|Hereditary cancer-predisposing syndrome [RCV003362882]|not provided [RCV000657295] |
Chr16:23630365 [GRCh38]
Chr16:23641686 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.774_775insC (p.Ser259fs) |
insertion |
not provided [RCV000657350] |
Chr16:23635771..23635772 [GRCh38]
Chr16:23647092..23647093 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000662619] |
Chr16:23636071 [GRCh38]
Chr16:23647392 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) |
deletion |
Familial cancer of breast [RCV001855356]|Hereditary breast ovarian cancer syndrome [RCV001775143]|Hereditary cancer-predisposing syndrome [RCV004659158]|not provided [RCV000657524] |
Chr16:23630044..23630054 [GRCh38]
Chr16:23641365..23641375 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001213219]|Hereditary cancer-predisposing syndrome [RCV002458171]|Malignant tumor of breast [RCV004526734]|PALB2-related disorder [RCV004740390]|not provided [RCV000657758] |
Chr16:23603579 [GRCh38]
Chr16:23614900 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001234062]|not provided [RCV000657760] |
Chr16:23603595 [GRCh38]
Chr16:23614916 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) |
deletion |
Familial cancer of breast [RCV001030207]|Hereditary cancer-predisposing syndrome [RCV002360680]|not provided [RCV000657801] |
Chr16:23635315..23635319 [GRCh38]
Chr16:23646636..23646640 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.666_669del (p.Leu222fs) |
deletion |
Familial cancer of breast [RCV000662696] |
Chr16:23635877..23635880 [GRCh38]
Chr16:23647198..23647201 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.212-2A>T |
single nucleotide variant |
Familial cancer of breast [RCV000662995] |
Chr16:23636336 [GRCh38]
Chr16:23647657 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.994C>T (p.Leu332Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000685532]|not provided [RCV003225111] |
Chr16:23635552 [GRCh38]
Chr16:23646873 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1103del (p.Asn368fs) |
deletion |
Familial cancer of breast [RCV000662949]|Hereditary cancer-predisposing syndrome [RCV001177937] |
Chr16:23635443 [GRCh38]
Chr16:23646764 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003453394]|Hereditary cancer-predisposing syndrome [RCV002406519]|Neuroendocrine tumor of pancreas [RCV000677896] |
Chr16:23635768 [GRCh38]
Chr16:23647089 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) |
duplication |
Familial cancer of breast [RCV001386777]|Malignant tumor of pancreas [RCV000677895] |
Chr16:23634893..23634894 [GRCh38]
Chr16:23646214..23646215 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) |
single nucleotide variant |
Familial cancer of breast [RCV000698770]|Familial cancer of breast [RCV002485708]|Fanconi anemia complementation group N [RCV003133551]|Hereditary cancer-predisposing syndrome [RCV000774627] |
Chr16:23626325 [GRCh38]
Chr16:23637646 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2881_2883del (p.Leu961del) |
deletion |
Familial cancer of breast [RCV000686314]|Hereditary cancer-predisposing syndrome [RCV002440423] |
Chr16:23623082..23623084 [GRCh38]
Chr16:23634403..23634405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2096C>T (p.Ser699Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000686073] |
Chr16:23630058 [GRCh38]
Chr16:23641379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1805A>C (p.Gln602Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000700898] |
Chr16:23630349 [GRCh38]
Chr16:23641670 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.2515-11T>C |
single nucleotide variant |
Familial cancer of breast [RCV002066995]|Hereditary cancer-predisposing syndrome [RCV000771301]|not provided [RCV000679764] |
Chr16:23629286 [GRCh38]
Chr16:23640607 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val) |
single nucleotide variant |
Familial cancer of breast [RCV001039207]|not provided [RCV000679771] |
Chr16:23603634 [GRCh38]
Chr16:23614955 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3048T>G (p.Phe1016Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001861873]|Hereditary cancer-predisposing syndrome [RCV001018293]|not provided [RCV000679768] |
Chr16:23621427 [GRCh38]
Chr16:23632748 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1991T>G (p.Met664Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000801768]|Hereditary cancer-predisposing syndrome [RCV001013949]|not provided [RCV000679762] |
Chr16:23630163 [GRCh38]
Chr16:23641484 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1 |
copy number loss |
not provided [RCV000683797] |
Chr16:23610466..24743657 [GRCh37]
Chr16:16p12.2-12.1 |
uncertain significance |
| NM_024675.4(PALB2):c.902A>T (p.Asp301Val) |
single nucleotide variant |
Familial cancer of breast [RCV001869525]|Hereditary cancer-predisposing syndrome [RCV001804639] |
Chr16:23635644 [GRCh38]
Chr16:23646965 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.763G>C (p.Asp255His) |
single nucleotide variant |
Familial cancer of breast [RCV000701247] |
Chr16:23635783 [GRCh38]
Chr16:23647104 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1006A>C (p.Asn336His) |
single nucleotide variant |
Familial cancer of breast [RCV000701789]|Hereditary cancer-predisposing syndrome [RCV002422574]|not provided [RCV000985881]|not specified [RCV003479202] |
Chr16:23635540 [GRCh38]
Chr16:23646861 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1212dup (p.Pro405fs) |
duplication |
Familial cancer of breast [RCV000701919] |
Chr16:23635333..23635334 [GRCh38]
Chr16:23646654..23646655 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.92C>T (p.Thr31Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000688103] |
Chr16:23638086 [GRCh38]
Chr16:23649407 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2973C>T (p.Val991=) |
single nucleotide variant |
Familial cancer of breast [RCV003607427]|Hereditary cancer-predisposing syndrome [RCV001804659] |
Chr16:23622992 [GRCh38]
Chr16:23634313 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2089G>A (p.Gly697Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000699438]|Hereditary cancer-predisposing syndrome [RCV002422555] |
Chr16:23630065 [GRCh38]
Chr16:23641386 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1975C>G (p.Leu659Val) |
single nucleotide variant |
Familial cancer of breast [RCV000685759]|Hereditary cancer-predisposing syndrome [RCV001191642] |
Chr16:23630179 [GRCh38]
Chr16:23641500 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2083A>G (p.Lys695Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000700130] |
Chr16:23630071 [GRCh38]
Chr16:23641392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1208T>G (p.Leu403Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000699808] |
Chr16:23635338 [GRCh38]
Chr16:23646659 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2656T>C (p.Cys886Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000685515]|Hereditary cancer-predisposing syndrome [RCV002424583] |
Chr16:23626328 [GRCh38]
Chr16:23637649 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-3T>G |
single nucleotide variant |
Familial cancer of breast [RCV000701002] |
Chr16:23630472 [GRCh38]
Chr16:23641793 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1885T>C (p.Ser629Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000686968]|Hereditary cancer-predisposing syndrome [RCV002406541] |
Chr16:23630269 [GRCh38]
Chr16:23641590 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2899A>G (p.Lys967Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000686887] |
Chr16:23623066 [GRCh38]
Chr16:23634387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1485A>T (p.Glu495Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000701590] |
Chr16:23635061 [GRCh38]
Chr16:23646382 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.626C>T (p.Ser209Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000701591]|Hereditary cancer-predisposing syndrome [RCV001177156] |
Chr16:23635920 [GRCh38]
Chr16:23647241 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1448C>T (p.Ser483Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000696071]|Hereditary cancer-predisposing syndrome [RCV000708728]|not provided [RCV001824361] |
Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1377C>G (p.Asp459Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000687394]|Hereditary cancer-predisposing syndrome [RCV000774945] |
Chr16:23635169 [GRCh38]
Chr16:23646490 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1331A>G (p.Asn444Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000704371] |
Chr16:23635215 [GRCh38]
Chr16:23646536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.938G>A (p.Gly313Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000704478] |
Chr16:23635608 [GRCh38]
Chr16:23646929 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV000707120]|Hereditary cancer-predisposing syndrome [RCV001015744]|Pancreatic cancer, susceptibility to, 3 [RCV001258101] |
Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001202011]|Hereditary cancer-predisposing syndrome [RCV000709375] |
Chr16:23607981 [GRCh38]
Chr16:23619302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000989550] |
Chr16:23614021 [GRCh38]
Chr16:23625342 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000989551] |
Chr16:23621390 [GRCh38]
Chr16:23632711 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3008del (p.Asn1003fs) |
deletion |
Familial cancer of breast [RCV000989552] |
Chr16:23621467 [GRCh38]
Chr16:23632788 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000709379] |
Chr16:23623038 [GRCh38]
Chr16:23634359 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000989558] |
Chr16:23629756 [GRCh38]
Chr16:23641077 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) |
duplication |
Familial cancer of breast [RCV000989566] |
Chr16:23630305..23630306 [GRCh38]
Chr16:23641626..23641627 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1539dup (p.Gly514fs) |
duplication |
Familial cancer of breast [RCV000989571] |
Chr16:23635006..23635007 [GRCh38]
Chr16:23646327..23646328 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.715del (p.Arg239fs) |
deletion |
Familial cancer of breast [RCV000989575] |
Chr16:23635831 [GRCh38]
Chr16:23647152 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000989583]|Hereditary cancer-predisposing syndrome [RCV000709390] |
Chr16:23638128 [GRCh38]
Chr16:23649449 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2587-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV000989555]|Hereditary cancer-predisposing syndrome [RCV000709380]|not provided [RCV001759427] |
Chr16:23626398 [GRCh38]
Chr16:23637719 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000709382] |
Chr16:23630025..23630038 [GRCh38]
Chr16:23641346..23641359 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.820A>C (p.Thr274Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000704500] |
Chr16:23635726 [GRCh38]
Chr16:23647047 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2332A>G (p.Ser778Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000690317]|Hereditary cancer-predisposing syndrome [RCV001015212] |
Chr16:23629822 [GRCh38]
Chr16:23641143 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.995_996del (p.Leu332fs) |
deletion |
Familial cancer of breast [RCV000690347] |
Chr16:23635550..23635551 [GRCh38]
Chr16:23646871..23646872 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2499A>T (p.Lys833Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000704597] |
Chr16:23629655 [GRCh38]
Chr16:23640976 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.532del (p.Glu178fs) |
deletion |
Familial cancer of breast [RCV000704651]|Hereditary cancer-predisposing syndrome [RCV001186986] |
Chr16:23636014 [GRCh38]
Chr16:23647335 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.167A>G (p.Asp56Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000693429] |
Chr16:23637894 [GRCh38]
Chr16:23649215 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000704896]|Hereditary cancer-predisposing syndrome [RCV001184091] |
Chr16:23626339 [GRCh38]
Chr16:23637660 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2668G>C (p.Ala890Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000704901]|Hereditary cancer-predisposing syndrome [RCV002424706] |
Chr16:23626316 [GRCh38]
Chr16:23637637 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3129dup (p.Gln1044fs) |
duplication |
Familial cancer of breast [RCV000693623] |
Chr16:23614075..23614076 [GRCh38]
Chr16:23625396..23625397 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1060T>G (p.Ser354Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000705104] |
Chr16:23635486 [GRCh38]
Chr16:23646807 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1165C>T (p.Leu389Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000693750]|Hereditary cancer-predisposing syndrome [RCV000774095] |
Chr16:23635381 [GRCh38]
Chr16:23646702 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs) |
indel |
Familial cancer of breast [RCV000702548]|Hereditary breast ovarian cancer syndrome [RCV002271571]|Hereditary cancer-predisposing syndrome [RCV002388318] |
Chr16:23635504..23635507 [GRCh38]
Chr16:23646825..23646828 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NC_000016.10:g.(?_23621352)_(23641167_?)del |
deletion |
Familial cancer of breast [RCV000707857] |
Chr16:23621352..23641167 [GRCh38]
Chr16:23632673..23652488 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000691295]|Hereditary cancer-predisposing syndrome [RCV001016341]|not provided [RCV001729686] |
Chr16:23626286 [GRCh38]
Chr16:23637607 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer) |
deletion |
Familial cancer of breast [RCV000705480]|Hereditary cancer-predisposing syndrome [RCV000774810] |
Chr16:23636149..23636150 [GRCh38]
Chr16:23647470..23647471 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23625315)_(23625422_?)dup |
duplication |
Familial cancer of breast [RCV000707904] |
Chr16:23613994..23614101 [GRCh38]
Chr16:23625315..23625422 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs) |
duplication |
Familial cancer of breast [RCV000702713] |
Chr16:23603476..23603477 [GRCh38]
Chr16:23614797..23614798 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.739_891dup (p.Thr247_Thr297dup) |
duplication |
Familial cancer of breast [RCV000705653] |
Chr16:23635654..23635655 [GRCh38]
Chr16:23646975..23646976 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1462A>C (p.Ser488Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000703059]|Hereditary cancer-predisposing syndrome [RCV003165890] |
Chr16:23635084 [GRCh38]
Chr16:23646405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1204C>A (p.Leu402Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000688879] |
Chr16:23635342 [GRCh38]
Chr16:23646663 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000691574]|Hereditary cancer-predisposing syndrome [RCV003584709]|not provided [RCV001030244]|not specified [RCV001192763] |
Chr16:23634877 [GRCh38]
Chr16:23646198 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000691622]|Hereditary cancer-predisposing syndrome [RCV001019527] |
Chr16:23607952 [GRCh38]
Chr16:23619273 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2590C>A (p.Pro864Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000694090] |
Chr16:23626394 [GRCh38]
Chr16:23637715 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23613994)_(23626407_?)del |
deletion |
Familial cancer of breast [RCV000708069] |
Chr16:23613994..23626407 [GRCh38]
Chr16:23625315..23637728 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23619175)_(23619343_?)dup |
duplication |
Familial cancer of breast [RCV000708075] |
Chr16:23607854..23608022 [GRCh38]
Chr16:23619175..23619343 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.977C>T (p.Ser326Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000694139]|Hereditary cancer-predisposing syndrome [RCV002386209]|not provided [RCV001547138] |
Chr16:23635569 [GRCh38]
Chr16:23646890 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3008dup (p.Asn1003fs) |
duplication |
Familial cancer of breast [RCV000684958] |
Chr16:23621466..23621467 [GRCh38]
Chr16:23632787..23632788 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2824A>G (p.Arg942Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000691828]|Hereditary cancer-predisposing syndrome [RCV001175785] |
Chr16:23624019 [GRCh38]
Chr16:23635340 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.590C>T (p.Thr197Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000705972]|Hereditary cancer-predisposing syndrome [RCV002352213] |
Chr16:23635956 [GRCh38]
Chr16:23647277 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2984C>T (p.Ala995Val) |
single nucleotide variant |
Familial cancer of breast [RCV000685221]|Hereditary cancer-predisposing syndrome [RCV003584702] |
Chr16:23622981 [GRCh38]
Chr16:23634302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1898A>G (p.Lys633Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000691917]|Hereditary cancer-predisposing syndrome [RCV001525886] |
Chr16:23630256 [GRCh38]
Chr16:23641577 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.173T>C (p.Leu58Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000691964] |
Chr16:23637888 [GRCh38]
Chr16:23649209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000706028]|Fanconi anemia complementation group N [RCV001825397]|Hereditary cancer-predisposing syndrome [RCV001189070] |
Chr16:23636225 [GRCh38]
Chr16:23647546 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23623999)_(23626407_?)del |
deletion |
Familial cancer of breast [RCV000708331] |
Chr16:23623999..23626407 [GRCh38]
Chr16:23635320..23637728 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.838A>C (p.Asn280His) |
single nucleotide variant |
Familial cancer of breast [RCV000689373] |
Chr16:23635708 [GRCh38]
Chr16:23647029 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.265G>C (p.Asp89His) |
single nucleotide variant |
Familial cancer of breast [RCV000692121]|Hereditary cancer-predisposing syndrome [RCV001016143] |
Chr16:23636281 [GRCh38]
Chr16:23647602 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1784_1785delinsCG (p.Asp595Ala) |
indel |
Familial cancer of breast [RCV000700253] |
Chr16:23630369..23630370 [GRCh38]
Chr16:23641690..23641691 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000700359]|Hereditary cancer-predisposing syndrome [RCV000708618] |
Chr16:23607874 [GRCh38]
Chr16:23619195 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000686106]|Familial cancer of breast [RCV002485597]|Hereditary cancer-predisposing syndrome [RCV001015881] |
Chr16:23629250 [GRCh38]
Chr16:23640571 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000700574]|Hereditary cancer-predisposing syndrome [RCV002442498]|PALB2-related disorder [RCV004527749]|not provided [RCV001284196] |
Chr16:23629881 [GRCh38]
Chr16:23641202 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.829G>T (p.Asp277Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000706386]|Hereditary cancer-predisposing syndrome [RCV001027378] |
Chr16:23635717 [GRCh38]
Chr16:23647038 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.998C>T (p.Thr333Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000692358] |
Chr16:23635548 [GRCh38]
Chr16:23646869 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614770)_(23615000_?)dup |
duplication |
Familial cancer of breast [RCV000708365] |
Chr16:23603449..23603679 [GRCh38]
Chr16:23614770..23615000 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3537T>A (p.Asn1179Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000686594] |
Chr16:23603483 [GRCh38]
Chr16:23614804 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1315G>C (p.Gly439Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000701052]|Hereditary cancer-predisposing syndrome [RCV001192207] |
Chr16:23635231 [GRCh38]
Chr16:23646552 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000692571]|Hereditary cancer-predisposing syndrome [RCV002458236]|PALB2-related disorder [RCV004527744] |
Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603449)_(23603679_?)del |
deletion |
Familial cancer of breast [RCV000708508] |
Chr16:23603449..23603679 [GRCh38]
Chr16:23614770..23615000 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.10C>A (p.Pro4Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000706431] |
Chr16:23641148 [GRCh38]
Chr16:23652469 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000802486]|Hereditary cancer-predisposing syndrome [RCV000708729]|not provided [RCV002298749] |
Chr16:23624030 [GRCh38]
Chr16:23635351 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1152A>G (p.Glu384=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000708727] |
Chr16:23635394 [GRCh38]
Chr16:23646715 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs) |
microsatellite |
Familial cancer of breast [RCV000697381]|Hereditary cancer-predisposing syndrome [RCV001176912] |
Chr16:23607911..23607912 [GRCh38]
Chr16:23619232..23619233 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2006A>G (p.Glu669Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000701660]|Hereditary cancer-predisposing syndrome [RCV001014045] |
Chr16:23630148 [GRCh38]
Chr16:23641469 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1346A>C (p.Lys449Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000689628]|Hereditary cancer-predisposing syndrome [RCV002386183] |
Chr16:23635200 [GRCh38]
Chr16:23646521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.350C>T (p.Pro117Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000706656]|Hereditary cancer-predisposing syndrome [RCV002458319] |
Chr16:23636196 [GRCh38]
Chr16:23647517 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.611C>G (p.Ser204Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000692658]|Hereditary cancer-predisposing syndrome [RCV002352143] |
Chr16:23635935 [GRCh38]
Chr16:23647256 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3133C>T (p.Leu1045Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000697436]|Hereditary cancer-predisposing syndrome [RCV001018761]|not provided [RCV001797130] |
Chr16:23614072 [GRCh38]
Chr16:23625393 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer) |
microsatellite |
Familial cancer of breast [RCV000697453]|Hereditary cancer-predisposing syndrome [RCV002257939] |
Chr16:23635407..23635408 [GRCh38]
Chr16:23646728..23646729 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2531T>C (p.Leu844Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000689844] |
Chr16:23629259 [GRCh38]
Chr16:23640580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.410G>T (p.Gly137Val) |
single nucleotide variant |
Familial cancer of breast [RCV000692797] |
Chr16:23636136 [GRCh38]
Chr16:23647457 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.97G>C (p.Ala33Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000689943]|Hereditary breast ovarian cancer syndrome [RCV003483707] |
Chr16:23638081 [GRCh38]
Chr16:23649402 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3547T>G (p.Tyr1183Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000695107]|Hereditary cancer-predisposing syndrome [RCV001020571] |
Chr16:23603473 [GRCh38]
Chr16:23614794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2080A>G (p.Thr694Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000702228]|Hereditary cancer-predisposing syndrome [RCV001014361] |
Chr16:23630074 [GRCh38]
Chr16:23641395 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs) |
deletion |
Familial cancer of breast [RCV000704420]|Hereditary cancer-predisposing syndrome [RCV001019756] |
Chr16:23607913..23607917 [GRCh38]
Chr16:23619234..23619238 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3342G>C (p.Gln1114His) |
single nucleotide variant |
Familial cancer of breast [RCV000707157]|Hereditary cancer-predisposing syndrome [RCV000776589] |
Chr16:23607872 [GRCh38]
Chr16:23619193 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.494G>A (p.Gly165Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000693175] |
Chr16:23636052 [GRCh38]
Chr16:23647373 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.712AGA[1] (p.Arg239del) |
microsatellite |
Familial cancer of breast [RCV000704567]|Hereditary cancer-predisposing syndrome [RCV001184088] |
Chr16:23635829..23635831 [GRCh38]
Chr16:23647150..23647152 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000693232]|Familial cancer of breast [RCV002493183]|Hereditary cancer-predisposing syndrome [RCV001181141] |
Chr16:23635396 [GRCh38]
Chr16:23646717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1869_1874del (p.Leu624_Glu625del) |
deletion |
Familial cancer of breast [RCV000693307] |
Chr16:23630280..23630285 [GRCh38]
Chr16:23641601..23641606 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-6T>C |
single nucleotide variant |
Familial cancer of breast [RCV000690519] |
Chr16:23626403 [GRCh38]
Chr16:23637724 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+6T>C |
single nucleotide variant |
Familial cancer of breast [RCV000704793] |
Chr16:23607858 [GRCh38]
Chr16:23619179 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.329G>A (p.Gly110Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000693372] |
Chr16:23636217 [GRCh38]
Chr16:23647538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+5G>A |
single nucleotide variant |
Familial cancer of breast [RCV000688342] |
Chr16:23638065 [GRCh38]
Chr16:23649386 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1585C>G (p.Pro529Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000707654]|Hereditary cancer-predisposing syndrome [RCV002397492] |
Chr16:23634961 [GRCh38]
Chr16:23646282 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2762del (p.Gln921fs) |
deletion |
Familial cancer of breast [RCV000693774]|Hereditary cancer-predisposing syndrome [RCV001179107] |
Chr16:23624081 [GRCh38]
Chr16:23635402 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23603449)_(23626407_?)del |
deletion |
Familial cancer of breast [RCV000707762] |
Chr16:23603449..23626407 [GRCh38]
Chr16:23614770..23637728 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) |
single nucleotide variant |
Familial cancer of breast [RCV000695855]|Familial cancer of breast [RCV002507213]|Hereditary cancer-predisposing syndrome [RCV003362904]|not provided [RCV001030369] |
Chr16:23621438 [GRCh38]
Chr16:23632759 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2299G>C (p.Val767Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000695964]|not provided [RCV001756208] |
Chr16:23629855 [GRCh38]
Chr16:23641176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2363C>A (p.Thr788Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000693835]|Hereditary cancer-predisposing syndrome [RCV002442454] |
Chr16:23629791 [GRCh38]
Chr16:23641112 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.802A>G (p.Lys268Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000688929]|Hereditary cancer-predisposing syndrome [RCV000772300] |
Chr16:23635744 [GRCh38]
Chr16:23647065 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs) |
deletion |
Familial cancer of breast [RCV000691345] |
Chr16:23629967..23629968 [GRCh38]
Chr16:23641288..23641289 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3362G>A (p.Gly1121Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000699335]|Hereditary cancer-predisposing syndrome [RCV000774623] |
Chr16:23603658 [GRCh38]
Chr16:23614979 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1819C>A (p.Leu607Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000698031] |
Chr16:23630335 [GRCh38]
Chr16:23641656 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.274dup (p.Thr92fs) |
duplication |
Familial cancer of breast [RCV000691368] |
Chr16:23636271..23636272 [GRCh38]
Chr16:23647592..23647593 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23634856)_(23641163_?)del |
deletion |
Familial cancer of breast [RCV000708114] |
Chr16:23634856..23641163 [GRCh38]
Chr16:23646177..23652484 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3153T>G (p.Ile1051Met) |
single nucleotide variant |
Familial cancer of breast [RCV000696521]|Hereditary cancer-predisposing syndrome [RCV003163203] |
Chr16:23614052 [GRCh38]
Chr16:23625373 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000699589]|Hereditary cancer-predisposing syndrome [RCV000773319]|not provided [RCV004696981] |
Chr16:23621422 [GRCh38]
Chr16:23632743 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.527T>C (p.Leu176Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000691478] |
Chr16:23636019 [GRCh38]
Chr16:23647340 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.113C>T (p.Ala38Val) |
single nucleotide variant |
Familial cancer of breast [RCV000694173]|Familial cancer of breast [RCV002477574]|Hereditary cancer-predisposing syndrome [RCV000774648]|Ovarian cancer [RCV003153807] |
Chr16:23637948 [GRCh38]
Chr16:23649269 [GRCh37]
Chr16:16p12.2 |
benign|uncertain significance |
| NC_000016.10:g.(?_23626226)_(23630479_?)del |
deletion |
Familial cancer of breast [RCV000708223] |
Chr16:23626226..23630479 [GRCh38]
Chr16:23637547..23641800 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3038T>C (p.Ile1013Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000696581]|Hereditary cancer-predisposing syndrome [RCV001018227] |
Chr16:23621437 [GRCh38]
Chr16:23632758 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2458G>A (p.Glu820Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000696705]|Hereditary cancer-predisposing syndrome [RCV001180221]|PALB2-related disorder [RCV004527746] |
Chr16:23629696 [GRCh38]
Chr16:23641017 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1736C>T (p.Ala579Val) |
single nucleotide variant |
Familial cancer of breast [RCV000698506]|Hereditary cancer-predisposing syndrome [RCV002397433] |
Chr16:23630418 [GRCh38]
Chr16:23641739 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603449)_(23608022_?)del |
deletion |
Familial cancer of breast [RCV000708313] |
Chr16:23603449..23608022 [GRCh38]
Chr16:23614770..23619343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23629194)_(23630479_?)del |
deletion |
Familial cancer of breast [RCV000708315] |
Chr16:23629194..23630479 [GRCh38]
Chr16:23640515..23641800 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23623999)_(23624104_?)del |
deletion |
Familial cancer of breast [RCV000708363] |
Chr16:23623999..23624104 [GRCh38]
Chr16:23635320..23635425 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2996+3A>C |
single nucleotide variant |
Familial cancer of breast [RCV000686952]|not provided [RCV003478404] |
Chr16:23622966 [GRCh38]
Chr16:23634287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000794070]|Hereditary cancer-predisposing syndrome [RCV000708621] |
Chr16:23635678 [GRCh38]
Chr16:23646999 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.49-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000708620] |
Chr16:23638130 [GRCh38]
Chr16:23649451 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2278C>T (p.Leu760Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000689420]|Hereditary cancer-predisposing syndrome [RCV000772877] |
Chr16:23629876 [GRCh38]
Chr16:23641197 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1152del (p.Ala385fs) |
deletion |
Familial cancer of breast [RCV000706271]|Hereditary cancer-predisposing syndrome [RCV002360830] |
Chr16:23635394 [GRCh38]
Chr16:23646715 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3242A>G (p.Glu1081Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000706354]|Hereditary cancer-predisposing syndrome [RCV002442535] |
Chr16:23607972 [GRCh38]
Chr16:23619293 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3329_3331del (p.Leu1110del) |
deletion |
not provided [RCV000722935] |
Chr16:23607883..23607885 [GRCh38]
Chr16:23619204..23619206 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.682del (p.Gln228fs) |
deletion |
Familial cancer of breast [RCV003453606]|Hereditary cancer-predisposing syndrome [RCV000776407]|PALB2-related disorder [RCV004740447] |
Chr16:23635864 [GRCh38]
Chr16:23647185 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) |
duplication |
Familial cancer of breast [RCV003453538]|Hereditary cancer-predisposing syndrome [RCV000755034] |
Chr16:23614040..23614041 [GRCh38]
Chr16:23625361..23625362 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_024675.4(PALB2):c.2270C>T (p.Thr757Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449375]|not provided [RCV001571386] |
Chr16:23629884 [GRCh38]
Chr16:23641205 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_024675.4(PALB2):c.2136G>T (p.Ala712=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584878]|not provided [RCV001284031] |
Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2878C>T (p.Leu960=) |
single nucleotide variant |
Familial cancer of breast [RCV002069504]|not provided [RCV001284199] |
Chr16:23623087 [GRCh38]
Chr16:23634408 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3288C>T (p.Asn1096=) |
single nucleotide variant |
Familial cancer of breast [RCV001501000]|Hereditary cancer-predisposing syndrome [RCV003584780] |
Chr16:23607926 [GRCh38]
Chr16:23619247 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+238del |
deletion |
not provided [RCV001585033] |
Chr16:23634624 [GRCh38]
Chr16:23645945 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3351-53del |
deletion |
not provided [RCV001610171] |
Chr16:23603722 [GRCh38]
Chr16:23615043 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1665A>G (p.Lys555=) |
single nucleotide variant |
Familial cancer of breast [RCV001476960]|Hereditary cancer-predisposing syndrome [RCV002400140] |
Chr16:23634881 [GRCh38]
Chr16:23646202 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2784G>T (p.Val928=) |
single nucleotide variant |
not provided [RCV001586216] |
Chr16:23624059 [GRCh38]
Chr16:23635380 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1080C>T (p.Asp360=) |
single nucleotide variant |
Familial cancer of breast [RCV000917885]|Hereditary cancer-predisposing syndrome [RCV001009845] |
Chr16:23635466 [GRCh38]
Chr16:23646787 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001855858]|Hereditary cancer-predisposing syndrome [RCV000755035]|not provided [RCV001354086] |
Chr16:23629962 [GRCh38]
Chr16:23641283 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000806524]|Hereditary cancer-predisposing syndrome [RCV003279043]|not provided [RCV000759891] |
Chr16:23635500 [GRCh38]
Chr16:23646821 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1525G>T (p.Gly509Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003362931]|not provided [RCV000759894] |
Chr16:23635021 [GRCh38]
Chr16:23646342 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001012123]|not provided [RCV000759895] |
Chr16:23634994..23634995 [GRCh38]
Chr16:23646315..23646316 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2678A>T (p.Asp893Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607343]|Hereditary cancer-predisposing syndrome [RCV001016288]|not provided [RCV000759900] |
Chr16:23626306 [GRCh38]
Chr16:23637627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2560A>C (p.Asn854His) |
single nucleotide variant |
not provided [RCV000759898] |
Chr16:23629230 [GRCh38]
Chr16:23640551 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001340380]|Hereditary cancer-predisposing syndrome [RCV003166013]|not provided [RCV000759897] |
Chr16:23634873 [GRCh38]
Chr16:23646194 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2484C>G (p.Cys828Trp) |
single nucleotide variant |
not provided [RCV000762215] |
Chr16:23629670 [GRCh38]
Chr16:23640991 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 |
copy number loss |
Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] |
Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.1684+183TAAA[9] |
microsatellite |
not provided [RCV001645784] |
Chr16:23634640..23634643 [GRCh38]
Chr16:23645961..23645964 [GRCh37]
Chr16:16p12.2 |
benign |
| NC_000016.10:g.(?_23603449)_(23641167_?)del |
deletion |
Familial cancer of breast [RCV001032011] |
Chr16:23614770..23652488 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1389dup (p.Arg464Ter) |
duplication |
Breast carcinoma [RCV001554338] |
Chr16:23635156..23635157 [GRCh38]
Chr16:23646477..23646478 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1990del (p.Met664fs) |
deletion |
Familial cancer of breast [RCV001066073] |
Chr16:23630164 [GRCh38]
Chr16:23641485 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3202-4T>C |
single nucleotide variant |
Familial cancer of breast [RCV001411007]|Hereditary cancer-predisposing syndrome [RCV001019202]|not provided [RCV001284320] |
Chr16:23608016 [GRCh38]
Chr16:23619337 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NG_007406.1:g.(5249_8228)_(17155_19960)del |
deletion |
Fanconi anemia complementation group N [RCV001030111] |
Chr16:23640524..23649451 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.696dup (p.Val233fs) |
duplication |
Familial cancer of breast [RCV001030166] |
Chr16:23635849..23635850 [GRCh38]
Chr16:23647170..23647171 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.759dup (p.Ser254fs) |
duplication |
Familial cancer of breast [RCV001030173] |
Chr16:23635786..23635787 [GRCh38]
Chr16:23647107..23647108 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2496_2513del (p.His832_Glu837del) |
deletion |
Familial cancer of breast [RCV001047761]|not provided [RCV001030311] |
Chr16:23629641..23629658 [GRCh38]
Chr16:23640962..23640979 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+1376C>G |
single nucleotide variant |
Familial cancer of breast [RCV001030383]|not provided [RCV004716654]|not specified [RCV002249636] |
Chr16:23619986 [GRCh38]
Chr16:23631307 [GRCh37]
Chr16:16p12.2 |
pathogenic|benign |
| NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) |
deletion |
Fanconi anemia complementation group N [RCV001030405] |
Chr16:23607916..23607920 [GRCh38]
Chr16:23619237..23619241 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) |
microsatellite |
Familial cancer of breast [RCV001045281]|Gastric cancer [RCV003160336]|Hereditary cancer-predisposing syndrome [RCV002436571] |
Chr16:23624013..23624016 [GRCh38]
Chr16:23635334..23635337 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23621352)_(23626407_?)del |
deletion |
Familial cancer of breast [RCV001031433] |
Chr16:23632673..23637728 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2514+2T>C |
single nucleotide variant |
not provided [RCV000786800] |
Chr16:23629638 [GRCh38]
Chr16:23640959 [GRCh37]
Chr16:16p12.2 |
pathogenic|not provided |
| NM_024675.3(PALB2):c.2835-324_3202-1757dup |
duplication |
Familial cancer of breast [RCV001031018] |
Chr16:23609769..23623454 [GRCh38]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2835-72_2835-71del |
deletion |
not provided [RCV001612156] |
Chr16:23623201..23623202 [GRCh38]
Chr16:23634522..23634523 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs) |
indel |
Familial cancer of breast [RCV003452251] |
Chr16:23629691 [GRCh38]
Chr16:23641012 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NC_000016.10:g.(?_23603313)_(23608022_?)del |
deletion |
Familial cancer of breast [RCV001031748] |
Chr16:23614634..23619343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1506G>A (p.Lys502=) |
single nucleotide variant |
Familial cancer of breast [RCV000924767] |
Chr16:23635040 [GRCh38]
Chr16:23646361 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-8C>T |
single nucleotide variant |
Familial cancer of breast [RCV000989579] |
Chr16:23636342 [GRCh38]
Chr16:23647663 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2148T>C (p.Asn716=) |
single nucleotide variant |
Familial cancer of breast [RCV000928489]|Hereditary cancer-predisposing syndrome [RCV002427305] |
Chr16:23630006 [GRCh38]
Chr16:23641327 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.915A>T (p.Val305=) |
single nucleotide variant |
Familial cancer of breast [RCV001471589] |
Chr16:23635631 [GRCh38]
Chr16:23646952 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.333T>C (p.Asp111=) |
single nucleotide variant |
Familial cancer of breast [RCV001400238]|Hereditary cancer-predisposing syndrome [RCV001181953] |
Chr16:23636213 [GRCh38]
Chr16:23647534 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1773A>G (p.Pro591=) |
single nucleotide variant |
Familial cancer of breast [RCV001471088]|Hereditary cancer-predisposing syndrome [RCV002409196]|not specified [RCV003321763] |
Chr16:23630381 [GRCh38]
Chr16:23641702 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-6T>C |
single nucleotide variant |
Familial cancer of breast [RCV001459652]|not specified [RCV003323771] |
Chr16:23629281 [GRCh38]
Chr16:23640602 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1621A>C (p.Arg541=) |
single nucleotide variant |
Familial cancer of breast [RCV001407327]|Hereditary cancer-predisposing syndrome [RCV001805944]|not provided [RCV000966551] |
Chr16:23634925 [GRCh38]
Chr16:23646246 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1305C>T (p.Val435=) |
single nucleotide variant |
Familial cancer of breast [RCV001404697]|Hereditary cancer-predisposing syndrome [RCV002382162] |
Chr16:23635241 [GRCh38]
Chr16:23646562 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1215T>G (p.Pro405=) |
single nucleotide variant |
Familial cancer of breast [RCV001412711] |
Chr16:23635331 [GRCh38]
Chr16:23646652 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.172T>C (p.Leu58=) |
single nucleotide variant |
Familial cancer of breast [RCV001406003]|Hereditary cancer-predisposing syndrome [RCV003363007] |
Chr16:23637889 [GRCh38]
Chr16:23649210 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2815T>C (p.Leu939=) |
single nucleotide variant |
Familial cancer of breast [RCV000983752] |
Chr16:23624028 [GRCh38]
Chr16:23635349 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2998G>A (p.Gly1000Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001036729] |
Chr16:23621477 [GRCh38]
Chr16:23632798 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.21530207_29332245del |
deletion |
not provided [RCV001030428] |
Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.3536A>G (p.Asn1179Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001873334]|Hereditary cancer-predisposing syndrome [RCV001020549] |
Chr16:23603484 [GRCh38]
Chr16:23614805 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) |
single nucleotide variant |
Chordoma [RCV002267068]|Familial cancer of breast [RCV001038666]|Hereditary cancer-predisposing syndrome [RCV001178878] |
Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2922G>C (p.Lys974Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001058172] |
Chr16:23623043 [GRCh38]
Chr16:23634364 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1553C>T (p.Ser518Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001036902] |
Chr16:23634993 [GRCh38]
Chr16:23646314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1921A>G (p.Lys641Glu) |
single nucleotide variant |
not provided [RCV001030269] |
Chr16:23630233 [GRCh38]
Chr16:23641554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455145]|not provided [RCV001030276] |
Chr16:23630071 [GRCh38]
Chr16:23641392 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3499A>C (p.Thr1167Pro) |
single nucleotide variant |
not provided [RCV001030421] |
Chr16:23603521 [GRCh38]
Chr16:23614842 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3549C>T (p.Tyr1183=) |
single nucleotide variant |
not provided [RCV001030424] |
Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2302T>C (p.Cys768Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001321770]|Hereditary cancer-predisposing syndrome [RCV001015013]|not provided [RCV003389728] |
Chr16:23629852 [GRCh38]
Chr16:23641173 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.91A>G (p.Thr31Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001055209]|Hereditary cancer-predisposing syndrome [RCV002445290] |
Chr16:23638087 [GRCh38]
Chr16:23649408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001051470]|Hereditary cancer [RCV004702605]|Hereditary cancer-predisposing syndrome [RCV002393258] |
Chr16:23635066 [GRCh38]
Chr16:23646387 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3540A>G (p.Ile1180Met) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001799027]|not provided [RCV001030423] |
Chr16:23603480 [GRCh38]
Chr16:23614801 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3552C>G (p.His1184Gln) |
single nucleotide variant |
not provided [RCV001030425] |
Chr16:23603468 [GRCh38]
Chr16:23614789 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3453C>T (p.Leu1151=) |
single nucleotide variant |
Familial cancer of breast [RCV002552040]|Hereditary cancer-predisposing syndrome [RCV002454256]|not provided [RCV001030418] |
Chr16:23603567 [GRCh38]
Chr16:23614888 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3537_3542delinsAA (p.Asn1179fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV001020550] |
Chr16:23603478..23603483 [GRCh38]
Chr16:23614799..23614804 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587A>G (p.Asn863Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001038715]|Hereditary cancer-predisposing syndrome [RCV002454280] |
Chr16:23626397 [GRCh38]
Chr16:23637718 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3086C>T (p.Thr1029Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001062146]|Hereditary cancer-predisposing syndrome [RCV003160502] |
Chr16:23621389 [GRCh38]
Chr16:23632710 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1988dup (p.Met664fs) |
duplication |
Familial cancer of breast [RCV001062175]|not provided [RCV002268424] |
Chr16:23630165..23630166 [GRCh38]
Chr16:23641486..23641487 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1652A>G (p.Tyr551Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001062287]|Hereditary cancer-predisposing syndrome [RCV002393305] |
Chr16:23634894 [GRCh38]
Chr16:23646215 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-3C>G |
single nucleotide variant |
Familial cancer of breast [RCV001051571] |
Chr16:23621481 [GRCh38]
Chr16:23632802 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3551del (p.His1184fs) |
deletion |
Familial cancer of breast [RCV001229333]|Hereditary cancer-predisposing syndrome [RCV001020590] |
Chr16:23603469 [GRCh38]
Chr16:23614790 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.961T>G (p.Leu321Val) |
single nucleotide variant |
Familial cancer of breast [RCV001053032] |
Chr16:23635585 [GRCh38]
Chr16:23646906 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2762A>C (p.Gln921Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001061633] |
Chr16:23624081 [GRCh38]
Chr16:23635402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1061C>A (p.Ser354Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001049498] |
Chr16:23635485 [GRCh38]
Chr16:23646806 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2399G>C (p.Cys800Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001035292]|Hereditary cancer-predisposing syndrome [RCV002445207] |
Chr16:23629755 [GRCh38]
Chr16:23641076 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1356_2586+201del |
deletion |
Familial cancer of breast [RCV001058567] |
Chr16:23629003..23635190 [GRCh38]
Chr16:23640324..23646511 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs) |
microsatellite |
Familial cancer of breast [RCV001071265] |
Chr16:23623041..23623042 [GRCh38]
Chr16:23634362..23634363 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1988G>A (p.Arg663His) |
single nucleotide variant |
Familial cancer of breast [RCV001061994]|Hereditary cancer-predisposing syndrome [RCV002418525]|not specified [RCV003323791] |
Chr16:23630166 [GRCh38]
Chr16:23641487 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603313)_(23603679_?)dup |
duplication |
Familial cancer of breast [RCV001033418] |
Chr16:23614634..23615000 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001071418]|Hereditary cancer-predisposing syndrome [RCV004030790] |
Chr16:23634978 [GRCh38]
Chr16:23646299 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.700G>C (p.Asp234His) |
single nucleotide variant |
Familial cancer of breast [RCV001056514] |
Chr16:23635846 [GRCh38]
Chr16:23647167 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1837C>G (p.Gln613Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001056515]|Hereditary cancer-predisposing syndrome [RCV002409463]|Malignant tumor of breast [RCV001356102] |
Chr16:23630317 [GRCh38]
Chr16:23641638 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.728C>T (p.Thr243Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001051761] |
Chr16:23635818 [GRCh38]
Chr16:23647139 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2716del (p.Trp906fs) |
deletion |
Familial cancer of breast [RCV001048107] |
Chr16:23626268 [GRCh38]
Chr16:23637589 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.-2C>G |
single nucleotide variant |
not provided [RCV001030101] |
Chr16:23641159 [GRCh38]
Chr16:23652480 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3457C>T (p.Pro1153Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001037506]|Hereditary cancer-predisposing syndrome [RCV002454271] |
Chr16:23603563 [GRCh38]
Chr16:23614884 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23621352)_(23624104_?)dup |
duplication |
Familial cancer of breast [RCV001032494] |
Chr16:23632673..23635425 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1706A>C (p.Lys569Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001035960]|Hereditary cancer-predisposing syndrome [RCV003363049]|not provided [RCV001560084] |
Chr16:23630448 [GRCh38]
Chr16:23641769 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1153G>A (p.Ala385Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001052293] |
Chr16:23635393 [GRCh38]
Chr16:23646714 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2220A>C (p.Gln740His) |
single nucleotide variant |
Familial cancer of breast [RCV001038086]|Hereditary cancer-predisposing syndrome [RCV001185460] |
Chr16:23629934 [GRCh38]
Chr16:23641255 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.678T>A (p.Thr226=) |
single nucleotide variant |
Familial cancer of breast [RCV001042954] |
Chr16:23635868 [GRCh38]
Chr16:23647189 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.413_414dup (p.Gln139fs) |
duplication |
Familial cancer of breast [RCV003316958] |
Chr16:23636131..23636132 [GRCh38]
Chr16:23647452..23647453 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2549T>G (p.Ile850Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001059849]|Hereditary cancer-predisposing syndrome [RCV003584811] |
Chr16:23629241 [GRCh38]
Chr16:23640562 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1319_1320insSVAelement |
insertion |
Familial cancer of breast [RCV001089796] |
Chr16:23635226..23635227 [GRCh38]
Chr16:23646547..23646548 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1499C>T (p.Ser500Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001052440] |
Chr16:23635047 [GRCh38]
Chr16:23646368 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.647T>C (p.Ile216Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001039734] |
Chr16:23635899 [GRCh38]
Chr16:23647220 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.679G>C (p.Ala227Pro) |
single nucleotide variant |
not provided [RCV001030164] |
Chr16:23635867 [GRCh38]
Chr16:23647188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.695G>A (p.Gly232Asp) |
single nucleotide variant |
not provided [RCV001030165] |
Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2144A>G (p.Asp715Gly) |
single nucleotide variant |
not provided [RCV001030282] |
Chr16:23630010 [GRCh38]
Chr16:23641331 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2160C>T (p.Thr720=) |
single nucleotide variant |
not provided [RCV001030284] |
Chr16:23629994 [GRCh38]
Chr16:23641315 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2206G>T (p.Ala736Ser) |
single nucleotide variant |
not provided [RCV001030286] |
Chr16:23629948 [GRCh38]
Chr16:23641269 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1099G>A (p.Glu367Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001037865] |
Chr16:23635447 [GRCh38]
Chr16:23646768 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.298C>G (p.Leu100Val) |
single nucleotide variant |
Familial cancer of breast [RCV001054341] |
Chr16:23636248 [GRCh38]
Chr16:23647569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001069194]|Hereditary cancer-predisposing syndrome [RCV001187628] |
Chr16:23629639 [GRCh38]
Chr16:23640960 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1501A>G (p.Arg501Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001048955]|Hereditary cancer-predisposing syndrome [RCV003363076] |
Chr16:23635045 [GRCh38]
Chr16:23646366 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV001036628] |
Chr16:23637848 [GRCh38]
Chr16:23649169 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2272C>T (p.Pro758Ser) |
single nucleotide variant |
not provided [RCV001030293] |
Chr16:23629882 [GRCh38]
Chr16:23641203 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2373G>A (p.Val791=) |
single nucleotide variant |
not provided [RCV001030302] |
Chr16:23629781 [GRCh38]
Chr16:23641102 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2383C>A (p.Gln795Lys) |
single nucleotide variant |
not provided [RCV001030303] |
Chr16:23629771 [GRCh38]
Chr16:23641092 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2426C>T (p.Thr809Ile) |
single nucleotide variant |
not provided [RCV001030307] |
Chr16:23629728 [GRCh38]
Chr16:23641049 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2525C>G (p.Ala842Gly) |
single nucleotide variant |
not provided [RCV001030319] |
Chr16:23629265 [GRCh38]
Chr16:23640586 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2540C>T (p.Ser847Phe) |
single nucleotide variant |
not provided [RCV001030320] |
Chr16:23629250 [GRCh38]
Chr16:23640571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2554C>A (p.Pro852Thr) |
single nucleotide variant |
not provided [RCV001030321] |
Chr16:23629236 [GRCh38]
Chr16:23640557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2562C>T (p.Asn854=) |
single nucleotide variant |
Familial cancer of breast [RCV002552436]|not provided [RCV001030322] |
Chr16:23629228 [GRCh38]
Chr16:23640549 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3039A>T (p.Ile1013=) |
single nucleotide variant |
not provided [RCV001030370] |
Chr16:23621436 [GRCh38]
Chr16:23632757 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2235del (p.Ala746fs) |
deletion |
Familial cancer of breast [RCV001253549]|Gastric cancer [RCV003160194]|not provided [RCV001030289] |
Chr16:23629919 [GRCh38]
Chr16:23641240 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2242A>G (p.Thr748Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427473]|not provided [RCV001030290] |
Chr16:23629912 [GRCh38]
Chr16:23641233 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2834+19G>A |
single nucleotide variant |
Familial cancer of breast [RCV002061068]|Hereditary cancer-predisposing syndrome [RCV000772396] |
Chr16:23623990 [GRCh38]
Chr16:23635311 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1532G>T (p.Arg511Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772428] |
Chr16:23635014 [GRCh38]
Chr16:23646335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.511T>C (p.Leu171=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772437] |
Chr16:23636035 [GRCh38]
Chr16:23647356 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2317A>G (p.Thr773Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002534023]|Hereditary cancer-predisposing syndrome [RCV000772532]|not provided [RCV003229861] |
Chr16:23629837 [GRCh38]
Chr16:23641158 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2441A>T (p.Glu814Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772540] |
Chr16:23629713 [GRCh38]
Chr16:23641034 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-17_3202-16insA |
insertion |
Hereditary cancer-predisposing syndrome [RCV000772541] |
Chr16:23608028..23608029 [GRCh38]
Chr16:23619349..23619350 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+6T>A |
single nucleotide variant |
Familial cancer of breast [RCV001041333]|Hereditary cancer-predisposing syndrome [RCV000772550]|not provided [RCV001585698] |
Chr16:23613998 [GRCh38]
Chr16:23625319 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2871G>A (p.Lys957=) |
single nucleotide variant |
Familial cancer of breast [RCV001433030]|Hereditary cancer-predisposing syndrome [RCV000772606] |
Chr16:23623094 [GRCh38]
Chr16:23634415 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.983C>T (p.Ser328Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772618] |
Chr16:23635563 [GRCh38]
Chr16:23646884 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2136G>C (p.Ala712=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774795] |
Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1156A>T (p.Thr386Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000817409]|Hereditary cancer-predisposing syndrome [RCV000774803] |
Chr16:23635390 [GRCh38]
Chr16:23646711 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3499A>G (p.Thr1167Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000793694] |
Chr16:23603521 [GRCh38]
Chr16:23614842 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3470A>C (p.Gln1157Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002534031]|Hereditary cancer-predisposing syndrome [RCV000772709] |
Chr16:23603550 [GRCh38]
Chr16:23614871 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2414T>A (p.Val805Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003607346]|Hereditary cancer-predisposing syndrome [RCV000772795] |
Chr16:23629740 [GRCh38]
Chr16:23641061 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.163C>G (p.Gln55Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001850966]|Hereditary cancer-predisposing syndrome [RCV000772804] |
Chr16:23637898 [GRCh38]
Chr16:23649219 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3458C>T (p.Pro1153Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001850967]|Hereditary cancer-predisposing syndrome [RCV000772811]|not specified [RCV002465768] |
Chr16:23603562 [GRCh38]
Chr16:23614883 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1954A>G (p.Ser652Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772813] |
Chr16:23630200 [GRCh38]
Chr16:23641521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3431T>C (p.Leu1144Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772818] |
Chr16:23603589 [GRCh38]
Chr16:23614910 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001856030]|Hereditary cancer-predisposing syndrome [RCV000772843] |
Chr16:23635533 [GRCh38]
Chr16:23646854 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030115]|Hereditary breast ovarian cancer syndrome [RCV003155956]|Hereditary cancer-predisposing syndrome [RCV000772890] |
Chr16:23638105 [GRCh38]
Chr16:23649426 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1296T>C (p.His432=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772893] |
Chr16:23635250 [GRCh38]
Chr16:23646571 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2872C>G (p.Gln958Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001324178]|Hereditary cancer-predisposing syndrome [RCV000772897] |
Chr16:23623093 [GRCh38]
Chr16:23634414 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001388158]|Hereditary cancer-predisposing syndrome [RCV000772898] |
Chr16:23623099 [GRCh38]
Chr16:23634420 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3350+14A>G |
single nucleotide variant |
Familial cancer of breast [RCV003768334]|Hereditary cancer-predisposing syndrome [RCV000772925] |
Chr16:23607850 [GRCh38]
Chr16:23619171 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3129T>C (p.Gly1043=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772958] |
Chr16:23614076 [GRCh38]
Chr16:23625397 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000780562]|Hereditary cancer-predisposing syndrome [RCV002440616] |
Chr16:23624084 [GRCh38]
Chr16:23635405 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000780563]|Hereditary cancer-predisposing syndrome [RCV001026625]|Uterine corpus cancer [RCV003128160] |
Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2616G>T (p.Val872=) |
single nucleotide variant |
Familial cancer of breast [RCV001078566]|Hereditary cancer-predisposing syndrome [RCV002440617]|not provided [RCV000878247]|not specified [RCV000780565] |
Chr16:23626368 [GRCh38]
Chr16:23637689 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2990A>G (p.Asp997Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773043] |
Chr16:23622975 [GRCh38]
Chr16:23634296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.207C>A (p.His69Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001042330]|Hereditary cancer-predisposing syndrome [RCV000773047] |
Chr16:23637854 [GRCh38]
Chr16:23649175 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001064056]|Hereditary cancer-predisposing syndrome [RCV000773053] |
Chr16:23630470 [GRCh38]
Chr16:23641791 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1729A>G (p.Asn577Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001065828]|Hereditary cancer-predisposing syndrome [RCV000773082] |
Chr16:23630425 [GRCh38]
Chr16:23641746 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1895A>C (p.Glu632Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607348]|Hereditary cancer-predisposing syndrome [RCV000773115] |
Chr16:23630259 [GRCh38]
Chr16:23641580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.*2T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773130] |
Chr16:23603457 [GRCh38]
Chr16:23614778 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.743T>C (p.Val248Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773144] |
Chr16:23635803 [GRCh38]
Chr16:23647124 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000819396]|Familial cancer of breast [RCV002507340]|Hereditary cancer-predisposing syndrome [RCV000773204] |
Chr16:23629818 [GRCh38]
Chr16:23641139 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.409G>A (p.Gly137Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000803385]|Hereditary cancer-predisposing syndrome [RCV000773246] |
Chr16:23636137 [GRCh38]
Chr16:23647458 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3369G>C (p.Val1123=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773317] |
Chr16:23603651 [GRCh38]
Chr16:23614972 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2317A>C (p.Thr773Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774823] |
Chr16:23629837 [GRCh38]
Chr16:23641158 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003768340]|Hereditary cancer-predisposing syndrome [RCV000773403] |
Chr16:23629268 [GRCh38]
Chr16:23640589 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2107_2109dup (p.Leu704dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000773455] |
Chr16:23630044..23630045 [GRCh38]
Chr16:23641365..23641366 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1162C>T (p.Pro388Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002534067]|Hereditary cancer-predisposing syndrome [RCV000773467]|not provided [RCV001775990] |
Chr16:23635384 [GRCh38]
Chr16:23646705 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2136G>A (p.Ala712=) |
single nucleotide variant |
Familial cancer of breast [RCV001406005]|Hereditary cancer-predisposing syndrome [RCV000773497]|not provided [RCV001030281] |
Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.810C>A (p.Ser270Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001856056]|Hereditary cancer-predisposing syndrome [RCV000773541] |
Chr16:23635736 [GRCh38]
Chr16:23647057 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000773791] |
Chr16:23624020..23624027 [GRCh38]
Chr16:23635341..23635348 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1941T>C (p.His647=) |
single nucleotide variant |
Familial cancer of breast [RCV001080752]|Hereditary cancer-predisposing syndrome [RCV002406684]|not provided [RCV000759182]|not specified [RCV000781683] |
Chr16:23630213 [GRCh38]
Chr16:23641534 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1909C>T (p.Pro637Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000797655]|Hereditary cancer-predisposing syndrome [RCV001013651]|not provided [RCV000759181] |
Chr16:23630245 [GRCh38]
Chr16:23641566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000820180]|Hereditary cancer-predisposing syndrome [RCV000773666]|not provided [RCV001030234] |
Chr16:23635010 [GRCh38]
Chr16:23646331 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2748+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773675] |
Chr16:23626233 [GRCh38]
Chr16:23637554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-10T>C |
single nucleotide variant |
Familial cancer of breast [RCV001491198]|Hereditary cancer-predisposing syndrome [RCV000774865] |
Chr16:23630479 [GRCh38]
Chr16:23641800 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.379C>T (p.His127Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV002533132]|Hereditary cancer-predisposing syndrome [RCV001021174]|not provided [RCV000759189] |
Chr16:23636167 [GRCh38]
Chr16:23647488 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1179del (p.Lys393fs) |
deletion |
Colorectal cancer [RCV001293837]|Familial cancer of breast [RCV003472298]|Hereditary cancer-predisposing syndrome [RCV000774849] |
Chr16:23635367 [GRCh38]
Chr16:23646688 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.168T>C (p.Asp56=) |
single nucleotide variant |
Familial cancer of breast [RCV001465989]|Familial cancer of breast [RCV002507341]|Hereditary cancer-predisposing syndrome [RCV000773731] |
Chr16:23637893 [GRCh38]
Chr16:23649214 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1932A>C (p.Gly644=) |
single nucleotide variant |
Familial cancer of breast [RCV001396898]|Hereditary cancer-predisposing syndrome [RCV000773734] |
Chr16:23630222 [GRCh38]
Chr16:23641543 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002477761]|Hereditary cancer-predisposing syndrome [RCV000773769] |
Chr16:23624016 [GRCh38]
Chr16:23635337 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2359A>G (p.Thr787Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773867] |
Chr16:23629795 [GRCh38]
Chr16:23641116 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-18G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773870] |
Chr16:23638147 [GRCh38]
Chr16:23649468 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+15G>T |
single nucleotide variant |
Familial cancer of breast [RCV002534101]|Hereditary cancer-predisposing syndrome [RCV000773882] |
Chr16:23613989 [GRCh38]
Chr16:23625310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.22C>A (p.Pro8Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001209051]|Hereditary cancer-predisposing syndrome [RCV000773884] |
Chr16:23641136 [GRCh38]
Chr16:23652457 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-20T>C |
single nucleotide variant |
Familial cancer of breast [RCV002067280]|Hereditary cancer-predisposing syndrome [RCV000773944] |
Chr16:23629295 [GRCh38]
Chr16:23640616 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.507C>T (p.Leu169=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773954] |
Chr16:23636039 [GRCh38]
Chr16:23647360 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1049A>T (p.Gln350Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001856098]|Hereditary cancer-predisposing syndrome [RCV000774892] |
Chr16:23635497 [GRCh38]
Chr16:23646818 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.620C>T (p.Pro207Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002534166]|Hereditary cancer-predisposing syndrome [RCV000774906]|not provided [RCV001030162] |
Chr16:23635926 [GRCh38]
Chr16:23647247 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+4A>G |
single nucleotide variant |
Familial cancer of breast [RCV001304942]|Hereditary cancer-predisposing syndrome [RCV000774968] |
Chr16:23614000 [GRCh38]
Chr16:23625321 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.341G>A (p.Gly114Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003607351]|Hereditary cancer-predisposing syndrome [RCV000774983] |
Chr16:23636205 [GRCh38]
Chr16:23647526 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.*6_*13delinsAATTTGTATACCACTATTCA |
indel |
Hereditary cancer-predisposing syndrome [RCV000775005] |
Chr16:23603446..23603453 [GRCh38]
Chr16:23614767..23614774 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2446T>C (p.Phe816Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001234610]|Hereditary cancer-predisposing syndrome [RCV000775007] |
Chr16:23629708 [GRCh38]
Chr16:23641029 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-19A>G |
single nucleotide variant |
Familial cancer of breast [RCV002067311]|Hereditary cancer-predisposing syndrome [RCV000775106] |
Chr16:23626416 [GRCh38]
Chr16:23637737 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.289T>C (p.Ser97Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001344073]|Hereditary cancer-predisposing syndrome [RCV000775252]|not provided [RCV003166052] |
Chr16:23636257 [GRCh38]
Chr16:23647578 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.544A>G (p.Ile182Val) |
single nucleotide variant |
Familial cancer of breast [RCV001873135]|Hereditary cancer-predisposing syndrome [RCV000773963] |
Chr16:23636002 [GRCh38]
Chr16:23647323 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2181T>G (p.Ala727=) |
single nucleotide variant |
Familial cancer of breast [RCV002536666]|Hereditary cancer-predisposing syndrome [RCV000773979] |
Chr16:23629973 [GRCh38]
Chr16:23641294 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3343G>C (p.Ala1115Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773981] |
Chr16:23607871 [GRCh38]
Chr16:23619192 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.243G>A (p.Lys81=) |
single nucleotide variant |
Familial cancer of breast [RCV001030136]|Hereditary cancer-predisposing syndrome [RCV000773983] |
Chr16:23636303 [GRCh38]
Chr16:23647624 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1939C>G (p.His647Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001873137]|Hereditary cancer-predisposing syndrome [RCV000774053] |
Chr16:23630215 [GRCh38]
Chr16:23641536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1879G>A (p.Val627Met) |
single nucleotide variant |
Familial cancer of breast [RCV000810095]|Hereditary cancer-predisposing syndrome [RCV000774126] |
Chr16:23630275 [GRCh38]
Chr16:23641596 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1058A>G (p.Lys353Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774139] |
Chr16:23635488 [GRCh38]
Chr16:23646809 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2707G>T (p.Ala903Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000775690] |
Chr16:23626277 [GRCh38]
Chr16:23637598 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1657C>G (p.His553Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000775709] |
Chr16:23634889 [GRCh38]
Chr16:23646210 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.170G>C (p.Cys57Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000775833] |
Chr16:23637891 [GRCh38]
Chr16:23649212 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-6_109-4del |
microsatellite |
Familial cancer of breast [RCV000793777]|Hereditary cancer-predisposing syndrome [RCV000775834] |
Chr16:23637956..23637958 [GRCh38]
Chr16:23649277..23649279 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002477776]|Hereditary cancer-predisposing syndrome [RCV000775843] |
Chr16:23630292 [GRCh38]
Chr16:23641613 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.191C>T (p.Ser64Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001297469]|Hereditary cancer [RCV003492169]|Hereditary cancer-predisposing syndrome [RCV000775864]|PALB2-related disorder [RCV004527778] |
Chr16:23637870 [GRCh38]
Chr16:23649191 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2248G>A (p.Val750Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000775965] |
Chr16:23629906 [GRCh38]
Chr16:23641227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000804573]|Hereditary cancer-predisposing syndrome [RCV000775969] |
Chr16:23630419 [GRCh38]
Chr16:23641740 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1958G>T (p.Cys653Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001065249]|Hereditary cancer-predisposing syndrome [RCV000776232]|PALB2-related disorder [RCV004527779]|not provided [RCV001772034] |
Chr16:23630196 [GRCh38]
Chr16:23641517 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000794017]|Hereditary cancer-predisposing syndrome [RCV001009887]|not specified [RCV000781685] |
Chr16:23635425 [GRCh38]
Chr16:23646746 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1685-17T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774242] |
Chr16:23630486 [GRCh38]
Chr16:23641807 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1878A>G (p.Lys626=) |
single nucleotide variant |
Familial cancer of breast [RCV001468975]|Hereditary cancer-predisposing syndrome [RCV000774266] |
Chr16:23630276 [GRCh38]
Chr16:23641597 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.2174C>T (p.Ser725Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774293] |
Chr16:23629980 [GRCh38]
Chr16:23641301 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1673T>G (p.Ile558Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774306] |
Chr16:23634873 [GRCh38]
Chr16:23646194 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1031A>C (p.Asn344Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001049305]|Hereditary cancer-predisposing syndrome [RCV000776346] |
Chr16:23635515 [GRCh38]
Chr16:23646836 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2586+15C>A |
single nucleotide variant |
Familial cancer of breast [RCV002067330]|Hereditary cancer-predisposing syndrome [RCV000776455]|not provided [RCV001683658] |
Chr16:23629189 [GRCh38]
Chr16:23640510 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001030219]|Hereditary cancer-predisposing syndrome [RCV000776558] |
Chr16:23635170 [GRCh38]
Chr16:23646491 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1685-14T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607353]|Hereditary cancer-predisposing syndrome [RCV000776566] |
Chr16:23630483 [GRCh38]
Chr16:23641804 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1169C>T (p.Ser390Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001217603]|Hereditary cancer-predisposing syndrome [RCV000776645] |
Chr16:23635377 [GRCh38]
Chr16:23646698 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.482A>G (p.Asp161Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000776647] |
Chr16:23636064 [GRCh38]
Chr16:23647385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+10dup |
duplication |
Familial cancer of breast [RCV003500594]|Hereditary cancer-predisposing syndrome [RCV000776653] |
Chr16:23641099..23641100 [GRCh38]
Chr16:23652420..23652421 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000808995] |
Chr16:23635987 [GRCh38]
Chr16:23647308 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2140GAT[1] (p.Asp715del) |
microsatellite |
Familial cancer of breast [RCV001230862]|Hereditary cancer-predisposing syndrome [RCV000776912] |
Chr16:23630009..23630011 [GRCh38]
Chr16:23641330..23641332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.655_656del (p.Asp219fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000777067] |
Chr16:23635890..23635891 [GRCh38]
Chr16:23647211..23647212 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.352A>G (p.Ile118Val) |
single nucleotide variant |
Familial cancer of breast [RCV001064113]|Hereditary cancer-predisposing syndrome [RCV000772634] |
Chr16:23636194 [GRCh38]
Chr16:23647515 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.160G>C (p.Glu54Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001035370]|Hereditary cancer-predisposing syndrome [RCV000772805] |
Chr16:23637901 [GRCh38]
Chr16:23649222 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-15C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772806] |
Chr16:23624109 [GRCh38]
Chr16:23635430 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2771C>T (p.Pro924Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773316] |
Chr16:23624072 [GRCh38]
Chr16:23635393 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.*15A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000773840] |
Chr16:23603444 [GRCh38]
Chr16:23614765 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2102C>G (p.Ser701Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001319205]|Hereditary cancer-predisposing syndrome [RCV000774013] |
Chr16:23630052 [GRCh38]
Chr16:23641373 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.24C>A (p.Pro8=) |
single nucleotide variant |
Familial cancer of breast [RCV001427077]|Hereditary cancer-predisposing syndrome [RCV000774069]|not provided [RCV000827540] |
Chr16:23641134 [GRCh38]
Chr16:23652455 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004029200]|not provided [RCV000827093] |
Chr16:23641158 [GRCh38]
Chr16:23652479 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3373G>C (p.Asp1125His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774622] |
Chr16:23603647 [GRCh38]
Chr16:23614968 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2166C>G (p.Asp722Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774633] |
Chr16:23629988 [GRCh38]
Chr16:23641309 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1872T>C (p.Leu624=) |
single nucleotide variant |
Familial cancer of breast [RCV001460130]|Hereditary cancer-predisposing syndrome [RCV000774637]|not specified [RCV003321729] |
Chr16:23630282 [GRCh38]
Chr16:23641603 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1489A>C (p.Asn497His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000776673] |
Chr16:23635057 [GRCh38]
Chr16:23646378 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3249_3253delinsAGCC |
indel |
Familial cancer of breast [RCV003453607]|Hereditary cancer-predisposing syndrome [RCV000776675] |
Chr16:23607961..23607965 [GRCh38]
Chr16:23619282..23619286 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2515-3C>G |
single nucleotide variant |
Familial cancer of breast [RCV000807908]|Hereditary cancer-predisposing syndrome [RCV000776694]|not provided [RCV001800878]|not specified [RCV001532915] |
Chr16:23629278 [GRCh38]
Chr16:23640599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-8T>C |
single nucleotide variant |
Familial cancer of breast [RCV001461741]|Hereditary cancer-predisposing syndrome [RCV000776754] |
Chr16:23626405 [GRCh38]
Chr16:23637726 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+16G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000776759] |
Chr16:23626220 [GRCh38]
Chr16:23637541 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3202G>T (p.Gly1068Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000776823] |
Chr16:23608012 [GRCh38]
Chr16:23619333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000817099]|Hereditary cancer-predisposing syndrome [RCV000771646] |
Chr16:23635116 [GRCh38]
Chr16:23646437 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1911C>T (p.Pro637=) |
single nucleotide variant |
Familial cancer of breast [RCV001403747]|Hereditary cancer-predisposing syndrome [RCV000771689] |
Chr16:23630243 [GRCh38]
Chr16:23641564 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1368G>T (p.Glu456Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001344115]|Hereditary cancer-predisposing syndrome [RCV000772269] |
Chr16:23635178 [GRCh38]
Chr16:23646499 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-15T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772577] |
Chr16:23638144 [GRCh38]
Chr16:23649465 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-18A>G |
single nucleotide variant |
Familial cancer of breast [RCV002536709]|Hereditary cancer-predisposing syndrome [RCV000776889] |
Chr16:23621496 [GRCh38]
Chr16:23632817 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2223_2224delinsG |
indel |
Familial cancer of breast [RCV003141762]|Hereditary cancer-predisposing syndrome [RCV000776932] |
Chr16:23629930..23629931 [GRCh38]
Chr16:23641251..23641252 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.225A>C (p.Lys75Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001201800]|Hereditary cancer-predisposing syndrome [RCV000777043] |
Chr16:23636321 [GRCh38]
Chr16:23647642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.713G>A (p.Arg238Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001362632]|Hereditary cancer-predisposing syndrome [RCV000777062] |
Chr16:23635833 [GRCh38]
Chr16:23647154 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2150A>G (p.Asp717Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003607354]|Hereditary cancer-predisposing syndrome [RCV000777077] |
Chr16:23630004 [GRCh38]
Chr16:23641325 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2124A>T (p.Leu708Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000793130] |
Chr16:23630030 [GRCh38]
Chr16:23641351 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-16A>T |
single nucleotide variant |
Familial cancer of breast [RCV002061048]|Hereditary cancer-predisposing syndrome [RCV000771300] |
Chr16:23614107 [GRCh38]
Chr16:23625428 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2340C>G (p.Gly780=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000771490] |
Chr16:23629814 [GRCh38]
Chr16:23641135 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1791G>A (p.Met597Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000774487] |
Chr16:23630363 [GRCh38]
Chr16:23641684 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-14T>A |
single nucleotide variant |
Familial cancer of breast [RCV002061094]|Hereditary cancer-predisposing syndrome [RCV000774629] |
Chr16:23629289 [GRCh38]
Chr16:23640610 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.504A>C (p.Ser168=) |
single nucleotide variant |
Familial cancer of breast [RCV002536687]|Hereditary cancer-predisposing syndrome [RCV000774645] |
Chr16:23636042 [GRCh38]
Chr16:23647363 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.445A>C (p.Lys149Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001358808]|Hereditary cancer-predisposing syndrome [RCV000774646] |
Chr16:23636101 [GRCh38]
Chr16:23647422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1180C>T (p.His394Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003607355]|Hereditary cancer-predisposing syndrome [RCV000777094] |
Chr16:23635366 [GRCh38]
Chr16:23646687 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-17G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000777111] |
Chr16:23641174 [GRCh38]
Chr16:23652495 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3490T>A (p.Trp1164Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000777157] |
Chr16:23603530 [GRCh38]
Chr16:23614851 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2445A>G (p.Ser815=) |
single nucleotide variant |
Familial cancer of breast [RCV001430335]|Hereditary cancer-predisposing syndrome [RCV000777340] |
Chr16:23629709 [GRCh38]
Chr16:23641030 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001869122]|Familial cancer of breast [RCV002477779]|Hereditary cancer-predisposing syndrome [RCV000777409] |
Chr16:23630157 [GRCh38]
Chr16:23641478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3234T>C (p.Cys1078=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000777451] |
Chr16:23607980 [GRCh38]
Chr16:23619301 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2371G>A (p.Val791Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000777462] |
Chr16:23629783 [GRCh38]
Chr16:23641104 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-9T>C |
single nucleotide variant |
Familial cancer of breast [RCV001050389]|Hereditary cancer-predisposing syndrome [RCV000777528]|not provided [RCV003478478] |
Chr16:23626406 [GRCh38]
Chr16:23637727 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2073C>G (p.Ser691Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001230945]|Hereditary cancer-predisposing syndrome [RCV000777585] |
Chr16:23630081 [GRCh38]
Chr16:23641402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.769G>T (p.Gly257Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003607360]|Hereditary cancer-predisposing syndrome [RCV000777889] |
Chr16:23635777 [GRCh38]
Chr16:23647098 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1123C>G (p.Leu375Val) |
single nucleotide variant |
Familial cancer of breast [RCV001216348]|Hereditary cancer-predisposing syndrome [RCV000771727] |
Chr16:23635423 [GRCh38]
Chr16:23646744 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2779G>A (p.Asp927Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000771745] |
Chr16:23624064 [GRCh38]
Chr16:23635385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2268C>T (p.Cys756=) |
single nucleotide variant |
Familial cancer of breast [RCV002067241]|Hereditary cancer-predisposing syndrome [RCV000772184] |
Chr16:23629886 [GRCh38]
Chr16:23641207 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+17C>T |
single nucleotide variant |
Familial cancer of breast [RCV002061065]|Hereditary cancer-predisposing syndrome [RCV000772254] |
Chr16:23637833 [GRCh38]
Chr16:23649154 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.943C>T (p.Leu315=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772263] |
Chr16:23635603 [GRCh38]
Chr16:23646924 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2225C>G (p.Ser742Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000772283] |
Chr16:23629929 [GRCh38]
Chr16:23641250 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.329G>C (p.Gly110Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002534013]|Hereditary cancer-predisposing syndrome [RCV000772365] |
Chr16:23636217 [GRCh38]
Chr16:23647538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-8T>C |
single nucleotide variant |
Familial cancer of breast [RCV001410885] |
Chr16:23637960 [GRCh38]
Chr16:23649281 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1815T>C (p.Ser605=) |
single nucleotide variant |
Familial cancer of breast [RCV000978033]|Hereditary cancer-predisposing syndrome [RCV002409294]|not specified [RCV002235782] |
Chr16:23630339 [GRCh38]
Chr16:23641660 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2076G>A (p.Gln692=) |
single nucleotide variant |
Familial cancer of breast [RCV000980401]|Hereditary cancer-predisposing syndrome [RCV002416255] |
Chr16:23630078 [GRCh38]
Chr16:23641399 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1125A>G (p.Leu375=) |
single nucleotide variant |
Familial cancer of breast [RCV001426147]|Hereditary cancer-predisposing syndrome [RCV001188928] |
Chr16:23635421 [GRCh38]
Chr16:23646742 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.591T>C (p.Thr197=) |
single nucleotide variant |
Familial cancer of breast [RCV000981600] |
Chr16:23635955 [GRCh38]
Chr16:23647276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1908G>A (p.Glu636=) |
single nucleotide variant |
Familial cancer of breast [RCV001403812]|Hereditary cancer-predisposing syndrome [RCV001013650] |
Chr16:23630246 [GRCh38]
Chr16:23641567 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1842A>G (p.Leu614=) |
single nucleotide variant |
Familial cancer of breast [RCV000983692] |
Chr16:23630312 [GRCh38]
Chr16:23641633 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3258A>T (p.Arg1086=) |
single nucleotide variant |
Familial cancer of breast [RCV001451691] |
Chr16:23607956 [GRCh38]
Chr16:23619277 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1221A>G (p.Glu407=) |
single nucleotide variant |
Familial cancer of breast [RCV000875462]|Hereditary cancer-predisposing syndrome [RCV002363299] |
Chr16:23635325 [GRCh38]
Chr16:23646646 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.642A>G (p.Thr214=) |
single nucleotide variant |
Familial cancer of breast [RCV001483870] |
Chr16:23635904 [GRCh38]
Chr16:23647225 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.696T>C (p.Gly232=) |
single nucleotide variant |
Familial cancer of breast [RCV001501437] |
Chr16:23635850 [GRCh38]
Chr16:23647171 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.507C>G (p.Leu169=) |
single nucleotide variant |
Familial cancer of breast [RCV001398460]|Hereditary cancer-predisposing syndrome [RCV001188230] |
Chr16:23636039 [GRCh38]
Chr16:23647360 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2160C>G (p.Thr720=) |
single nucleotide variant |
Familial cancer of breast [RCV001498412]|Hereditary cancer-predisposing syndrome [RCV002416136] |
Chr16:23629994 [GRCh38]
Chr16:23641315 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1191A>G (p.Thr397=) |
single nucleotide variant |
Familial cancer of breast [RCV001088174]|Hereditary cancer-predisposing syndrome [RCV003169309]|not provided [RCV000919030] |
Chr16:23635355 [GRCh38]
Chr16:23646676 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2364C>A (p.Thr788=) |
single nucleotide variant |
Familial cancer of breast [RCV000978099]|Hereditary cancer-predisposing syndrome [RCV004659279] |
Chr16:23629790 [GRCh38]
Chr16:23641111 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2202T>C (p.Thr734=) |
single nucleotide variant |
Familial cancer of breast [RCV001499662]|Hereditary cancer-predisposing syndrome [RCV002427183]|not provided [RCV003478554] |
Chr16:23629952 [GRCh38]
Chr16:23641273 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.48+10G>A |
single nucleotide variant |
Familial cancer of breast [RCV001472512]|not provided [RCV000759190] |
Chr16:23641100 [GRCh38]
Chr16:23652421 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2481A>C (p.Thr827=) |
single nucleotide variant |
Familial cancer of breast [RCV001410472] |
Chr16:23629673 [GRCh38]
Chr16:23640994 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3170_3175delinsAATCA (p.Ala1057fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV001018949] |
Chr16:23614030..23614035 [GRCh38]
Chr16:23625351..23625356 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000780570]|Hereditary breast ovarian cancer syndrome [RCV003155957]|Hereditary cancer-predisposing syndrome [RCV002422668]|Malignant tumor of breast [RCV001355597] |
Chr16:23630142 [GRCh38]
Chr16:23641463 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3085_3092del (p.Thr1029fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000773460] |
Chr16:23621383..23621390 [GRCh38]
Chr16:23632704..23632711 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1569A>G (p.Ala523=) |
single nucleotide variant |
Familial cancer of breast [RCV001462396]|Hereditary cancer-predisposing syndrome [RCV003584744]|not provided [RCV003478485]|not specified [RCV000781682] |
Chr16:23634977 [GRCh38]
Chr16:23646298 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) |
insertion |
Familial cancer of breast [RCV000781689] |
Chr16:23607916..23607917 [GRCh38]
Chr16:23619237..23619238 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001299914]|Hereditary cancer-predisposing syndrome [RCV001018406]|not specified [RCV000781693] |
Chr16:23621409 [GRCh38]
Chr16:23632730 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350_3350+1delinsC |
indel |
Hereditary cancer-predisposing syndrome [RCV003311295] |
Chr16:23607863..23607864 [GRCh38]
Chr16:23619184..23619185 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2171G>A (p.Cys724Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311301] |
Chr16:23629983 [GRCh38]
Chr16:23641304 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455792]|Hereditary cancer-predisposing syndrome [RCV003311306] |
Chr16:23622970 [GRCh38]
Chr16:23634291 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1064dup (p.Leu355fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003311309] |
Chr16:23635481..23635482 [GRCh38]
Chr16:23646802..23646803 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3037_3040delinsGTG (p.Ile1013fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV003311311] |
Chr16:23621435..23621438 [GRCh38]
Chr16:23632756..23632759 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3272A>G (p.Gln1091Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001314137]|Hereditary cancer-predisposing syndrome [RCV001019561] |
Chr16:23607942 [GRCh38]
Chr16:23619263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.613G>T (p.Glu205Ter) |
single nucleotide variant |
not provided [RCV000759192] |
Chr16:23635933 [GRCh38]
Chr16:23647254 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3326G>A (p.Cys1109Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001247240]|Hereditary cancer-predisposing syndrome [RCV001019994] |
Chr16:23607888 [GRCh38]
Chr16:23619209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1980T>C (p.Ser660=) |
single nucleotide variant |
not provided [RCV000827327] |
Chr16:23630174 [GRCh38]
Chr16:23641495 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.240C>A (p.Asp80Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000796304] |
Chr16:23636306 [GRCh38]
Chr16:23647627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2639C>A (p.Ala880Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000815611] |
Chr16:23626345 [GRCh38]
Chr16:23637666 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1528A>G (p.Arg510Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000815617]|Hereditary cancer-predisposing syndrome [RCV002390657] |
Chr16:23635018 [GRCh38]
Chr16:23646339 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-165C>G |
single nucleotide variant |
not provided [RCV000837423] |
Chr16:23638294 [GRCh38]
Chr16:23649615 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.211+191A>T |
single nucleotide variant |
not provided [RCV000837424] |
Chr16:23637659 [GRCh38]
Chr16:23648980 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.648T>G (p.Ile216Met) |
single nucleotide variant |
Familial cancer of breast [RCV000804441] |
Chr16:23635898 [GRCh38]
Chr16:23647219 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.229T>G (p.Cys77Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000820900]|Hereditary cancer-predisposing syndrome [RCV002427055] |
Chr16:23636317 [GRCh38]
Chr16:23647638 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs) |
deletion |
Familial cancer of breast [RCV000804479] |
Chr16:23630383..23630389 [GRCh38]
Chr16:23641704..23641710 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.211+274C>T |
single nucleotide variant |
not provided [RCV000839418] |
Chr16:23637576 [GRCh38]
Chr16:23648897 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer) |
deletion |
Familial cancer of breast [RCV000793562] |
Chr16:23635714 [GRCh38]
Chr16:23647035 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.512T>A (p.Leu171Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000798117] |
Chr16:23636034 [GRCh38]
Chr16:23647355 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2480C>T (p.Thr827Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000821109]|not provided [RCV002510990] |
Chr16:23629674 [GRCh38]
Chr16:23640995 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603449)_(23614101_?)del |
deletion |
Familial cancer of breast [RCV000817957] |
Chr16:23603449..23614101 [GRCh38]
Chr16:23614770..23625422 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23634852)_(23641167_?)del |
deletion |
Familial cancer of breast [RCV000821939] |
Chr16:23634852..23641167 [GRCh38]
Chr16:23646173..23652488 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2749G>A (p.Val917Ile) |
single nucleotide variant |
Familial cancer of breast [RCV000815988]|Hereditary cancer-predisposing syndrome [RCV001016480]|PALB2-related disorder [RCV004545803] |
Chr16:23624094 [GRCh38]
Chr16:23635415 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance|not provided |
| NM_024675.4(PALB2):c.1958G>C (p.Cys653Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000819304] |
Chr16:23630196 [GRCh38]
Chr16:23641517 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1388T>G (p.Ile463Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000823312] |
Chr16:23635158 [GRCh38]
Chr16:23646479 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2046A>G (p.Ser682=) |
single nucleotide variant |
Familial cancer of breast [RCV001394056]|Hereditary cancer-predisposing syndrome [RCV002416182] |
Chr16:23630108 [GRCh38]
Chr16:23641429 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs) |
deletion |
Familial cancer of breast [RCV000793870] |
Chr16:23629229..23629230 [GRCh38]
Chr16:23640550..23640551 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs) |
microsatellite |
Familial cancer of breast [RCV000817697] |
Chr16:23621436..23621437 [GRCh38]
Chr16:23632757..23632758 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer) |
microsatellite |
Familial cancer of breast [RCV000819449]|Hereditary breast ovarian cancer syndrome [RCV004702454]|Hereditary cancer-predisposing syndrome [RCV002427039] |
Chr16:23635461..23635462 [GRCh38]
Chr16:23646782..23646783 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs) |
indel |
Familial cancer of breast [RCV003453670]|Hereditary cancer-predisposing syndrome [RCV002440690] |
Chr16:23621474..23621476 [GRCh38]
Chr16:23632795..23632797 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3449TCC[1] (p.Leu1151del) |
microsatellite |
Familial cancer of breast [RCV000819505]|Hereditary cancer-predisposing syndrome [RCV003584765] |
Chr16:23603566..23603568 [GRCh38]
Chr16:23614887..23614889 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.279A>T (p.Gly93=) |
single nucleotide variant |
Familial cancer of breast [RCV000815139] |
Chr16:23636267 [GRCh38]
Chr16:23647588 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.3:c.2514+136T>C |
single nucleotide variant |
not provided [RCV000836094] |
Chr16:23640825 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.604C>T (p.Leu202Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000817846] |
Chr16:23635942 [GRCh38]
Chr16:23647263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1936A>G (p.Arg646Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000810883] |
Chr16:23630218 [GRCh38]
Chr16:23641539 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2295del (p.Ser766fs) |
deletion |
Familial cancer of breast [RCV000806144] |
Chr16:23629859 [GRCh38]
Chr16:23641180 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23613994)_(23624104_?)del |
deletion |
Familial cancer of breast [RCV000817270] |
Chr16:23613994..23624104 [GRCh38]
Chr16:23625315..23635425 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1555G>C (p.Ala519Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000816317]|Hereditary cancer-predisposing syndrome [RCV002397699] |
Chr16:23634991 [GRCh38]
Chr16:23646312 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs) |
insertion |
Familial cancer of breast [RCV000799886]|Hereditary cancer-predisposing syndrome [RCV002345781] |
Chr16:23636024..23636025 [GRCh38]
Chr16:23647345..23647346 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1642T>C (p.Ser548Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000817974]|Hereditary cancer-predisposing syndrome [RCV002397705] |
Chr16:23634904 [GRCh38]
Chr16:23646225 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2170T>C (p.Cys724Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000807868] |
Chr16:23629984 [GRCh38]
Chr16:23641305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23621352)_(23636344_?)del |
deletion |
Familial cancer of breast [RCV000801989] |
Chr16:23621352..23636344 [GRCh38]
Chr16:23632673..23647665 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2608G>C (p.Val870Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000807664]|Hereditary cancer-predisposing syndrome [RCV001016050] |
Chr16:23626376 [GRCh38]
Chr16:23637697 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.805G>T (p.Gly269Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000824213]|Hereditary cancer-predisposing syndrome [RCV001524413] |
Chr16:23635741 [GRCh38]
Chr16:23647062 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.515C>T (p.Ser172Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000824377] |
Chr16:23636031 [GRCh38]
Chr16:23647352 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs) |
duplication |
Familial cancer of breast [RCV000824430]|Hereditary cancer-predisposing syndrome [RCV002442769] |
Chr16:23621411..23621412 [GRCh38]
Chr16:23632732..23632733 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1646A>G (p.His549Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000810610]|Hereditary cancer-predisposing syndrome [RCV002390633] |
Chr16:23634900 [GRCh38]
Chr16:23646221 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+2dup |
duplication |
Familial cancer of breast [RCV000801737]|Hereditary cancer-predisposing syndrome [RCV002440679] |
Chr16:23626233..23626234 [GRCh38]
Chr16:23637554..23637555 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2749-4T>G |
single nucleotide variant |
Familial cancer of breast [RCV000819873] |
Chr16:23624098 [GRCh38]
Chr16:23635419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000811935]|Hereditary cancer-predisposing syndrome [RCV004028753] |
Chr16:23603543 [GRCh38]
Chr16:23614864 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2773G>A (p.Val925Met) |
single nucleotide variant |
Familial cancer of breast [RCV000807391]|Hereditary cancer-predisposing syndrome [RCV004028613] |
Chr16:23624070 [GRCh38]
Chr16:23635391 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1730A>G (p.Asn577Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000791655]|Hereditary cancer-predisposing syndrome [RCV002397563] |
Chr16:23630424 [GRCh38]
Chr16:23641745 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1779T>C (p.His593=) |
single nucleotide variant |
Familial cancer of breast [RCV000808278]|Hereditary cancer-predisposing syndrome [RCV001013149] |
Chr16:23630375 [GRCh38]
Chr16:23641696 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3202-83G>C |
single nucleotide variant |
not provided [RCV000834849] |
Chr16:23608095 [GRCh38]
Chr16:23619416 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2662A>G (p.Ile888Val) |
single nucleotide variant |
Familial cancer of breast [RCV002295314]|Hereditary cancer-predisposing syndrome [RCV002427438]|not provided [RCV000985890] |
Chr16:23626322 [GRCh38]
Chr16:23637643 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2797T>G (p.Cys933Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000811310]|Hereditary cancer-predisposing syndrome [RCV002440753] |
Chr16:23624046 [GRCh38]
Chr16:23635367 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.76del (p.Arg26fs) |
deletion |
Familial cancer of breast [RCV000814964] |
Chr16:23638102 [GRCh38]
Chr16:23649423 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.988A>G (p.Asn330Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000820184] |
Chr16:23635558 [GRCh38]
Chr16:23646879 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1658A>G (p.His553Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000795881]|Hereditary cancer-predisposing syndrome [RCV003307438] |
Chr16:23634888 [GRCh38]
Chr16:23646209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1298T>G (p.Leu433Trp) |
single nucleotide variant |
Familial cancer of breast [RCV000812352]|Hereditary cancer-predisposing syndrome [RCV001010583] |
Chr16:23635248 [GRCh38]
Chr16:23646569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1754A>C (p.Asp585Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000798853] |
Chr16:23630400 [GRCh38]
Chr16:23641721 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2855A>T (p.Asp952Val) |
single nucleotide variant |
Familial cancer of breast [RCV000816830] |
Chr16:23623110 [GRCh38]
Chr16:23634431 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) |
microsatellite |
Familial cancer of breast [RCV000796093]|Hereditary cancer-predisposing syndrome [RCV002397591]|not provided [RCV001284027] |
Chr16:23630444..23630445 [GRCh38]
Chr16:23641765..23641766 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1647C>G (p.His549Gln) |
single nucleotide variant |
Familial cancer of breast [RCV000812545] |
Chr16:23634899 [GRCh38]
Chr16:23646220 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2903C>T (p.Ala968Val) |
single nucleotide variant |
Familial cancer of breast [RCV000791781] |
Chr16:23623062 [GRCh38]
Chr16:23634383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23621352)_(23623140_?)del |
deletion |
Familial cancer of breast [RCV000808627] |
Chr16:23621352..23623140 [GRCh38]
Chr16:23632673..23634461 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000804000] |
Chr16:23629732 [GRCh38]
Chr16:23641053 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3351-48G>T |
single nucleotide variant |
Familial cancer of breast [RCV000989548]|not provided [RCV001577677] |
Chr16:23603717 [GRCh38]
Chr16:23615038 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000989564] |
Chr16:23630237 [GRCh38]
Chr16:23641558 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.-66C>T |
single nucleotide variant |
Familial cancer of breast [RCV000989586] |
Chr16:23641223 [GRCh38]
Chr16:23652544 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2081C>G (p.Thr694Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000796688]|Hereditary cancer-predisposing syndrome [RCV004027571]|PALB2-related disorder [RCV004723188]|not provided [RCV003166144] |
Chr16:23630073 [GRCh38]
Chr16:23641394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+5G>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV000845286] |
Chr16:23613999 [GRCh38]
Chr16:23625320 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.872C>T (p.Ala291Val) |
single nucleotide variant |
Familial cancer of breast [RCV000802308]|Hereditary cancer-predisposing syndrome [RCV003380724] |
Chr16:23635674 [GRCh38]
Chr16:23646995 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2942G>A (p.Ser981Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000805772] |
Chr16:23623023 [GRCh38]
Chr16:23634344 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3312T>C (p.Gly1104=) |
single nucleotide variant |
not provided [RCV000840847] |
Chr16:23607902 [GRCh38]
Chr16:23619223 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3347G>A (p.Gly1116Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000813150] |
Chr16:23607867 [GRCh38]
Chr16:23619188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000792959]|Hereditary cancer-predisposing syndrome [RCV002325498] |
Chr16:23635417 [GRCh38]
Chr16:23646738 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.3:c.2515-11T>C |
single nucleotide variant |
not provided [RCV000837253] |
Chr16:23640607 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs) |
deletion |
Familial cancer of breast [RCV000820703]|Hereditary cancer-predisposing syndrome [RCV003372883] |
Chr16:23623123..23623127 [GRCh38]
Chr16:23634444..23634448 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3130C>A (p.Gln1044Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000797075]|Hereditary cancer-predisposing syndrome [RCV001018753] |
Chr16:23614075 [GRCh38]
Chr16:23625396 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3058_3069dup (p.Gln1020_Gln1023dup) |
duplication |
Familial cancer of breast [RCV000809079] |
Chr16:23621405..23621406 [GRCh38]
Chr16:23632726..23632727 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2773del (p.Val925fs) |
deletion |
Familial cancer of breast [RCV000811740] |
Chr16:23624070 [GRCh38]
Chr16:23635391 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.108+6T>G |
single nucleotide variant |
Familial cancer of breast [RCV000812197] |
Chr16:23638064 [GRCh38]
Chr16:23649385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.331G>A (p.Asp111Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000815691] |
Chr16:23636215 [GRCh38]
Chr16:23647536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2752C>A (p.Pro918Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000799376] |
Chr16:23624091 [GRCh38]
Chr16:23635412 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2210T>G (p.Phe737Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000819823]|Hereditary cancer-predisposing syndrome [RCV001014803] |
Chr16:23629944 [GRCh38]
Chr16:23641265 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+4C>T |
single nucleotide variant |
Familial cancer of breast [RCV000812730]|Hereditary cancer-predisposing syndrome [RCV002424911] |
Chr16:23629636 [GRCh38]
Chr16:23640957 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000816115]|Hereditary cancer-predisposing syndrome [RCV001015972] |
Chr16:23629224 [GRCh38]
Chr16:23640545 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2692T>C (p.Trp898Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000819976]|Hereditary cancer-predisposing syndrome [RCV001016328] |
Chr16:23626292 [GRCh38]
Chr16:23637613 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV000806217]|not provided [RCV001291546] |
Chr16:23637849 [GRCh38]
Chr16:23649170 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3018G>T (p.Leu1006Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000822658]|Hereditary cancer-predisposing syndrome [RCV001018068] |
Chr16:23621457 [GRCh38]
Chr16:23632778 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1128T>A (p.Ser376Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000797021] |
Chr16:23635418 [GRCh38]
Chr16:23646739 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.299T>G (p.Leu100Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000820383] |
Chr16:23636247 [GRCh38]
Chr16:23647568 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3432C>A (p.Leu1144=) |
single nucleotide variant |
Familial cancer of breast [RCV001869282]|Hereditary cancer-predisposing syndrome [RCV001180750]|not provided [RCV000841658] |
Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1833C>G (p.Asp611Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000823159]|Hereditary cancer-predisposing syndrome [RCV004029133] |
Chr16:23630321 [GRCh38]
Chr16:23641642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV000793896]|Hereditary cancer-predisposing syndrome [RCV002422689]|not provided [RCV001268209] |
Chr16:23636336 [GRCh38]
Chr16:23647657 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2552A>G (p.Asn851Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000797154] |
Chr16:23629238 [GRCh38]
Chr16:23640559 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1487A>T (p.Asp496Val) |
single nucleotide variant |
Familial cancer of breast [RCV000823409]|Hereditary cancer-predisposing syndrome [RCV002390707] |
Chr16:23635059 [GRCh38]
Chr16:23646380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1965del (p.Pro656fs) |
deletion |
Familial cancer of breast [RCV000823630]|Hereditary cancer-predisposing syndrome [RCV002415945] |
Chr16:23630189 [GRCh38]
Chr16:23641510 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3(PALB2):c.1648_1659del (p.Lys550_His553del) |
deletion |
Neoplasm of ovary [RCV000785365] |
Chr16:23634887..23634898 [GRCh38]
Chr16:23646208..23646219 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.108G>A (p.Gln36=) |
single nucleotide variant |
Familial cancer of breast [RCV001371889]|Hereditary cancer-predisposing syndrome [RCV002256498] |
Chr16:23638070 [GRCh38]
Chr16:23649391 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs) |
insertion |
Familial cancer of breast [RCV000813883]|Hereditary cancer-predisposing syndrome [RCV001184411] |
Chr16:23629968..23629969 [GRCh38]
Chr16:23641289..23641290 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3343G>A (p.Ala1115Thr) |
single nucleotide variant |
Familial cancer of breast [RCV000804578] |
Chr16:23607871 [GRCh38]
Chr16:23619192 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1471G>T (p.Ala491Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000823870]|Hereditary cancer-predisposing syndrome [RCV001175782] |
Chr16:23635075 [GRCh38]
Chr16:23646396 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.254A>G (p.Lys85Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000791662]|not provided [RCV001030139] |
Chr16:23636292 [GRCh38]
Chr16:23647613 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+166T>C |
single nucleotide variant |
not provided [RCV000836483] |
Chr16:23637684 [GRCh38]
Chr16:23649005 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-183T>G |
single nucleotide variant |
not provided [RCV000836484] |
Chr16:23636517 [GRCh38]
Chr16:23647838 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+196A>G |
single nucleotide variant |
not provided [RCV000836485] |
Chr16:23621166 [GRCh38]
Chr16:23632487 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3083G>T (p.Gly1028Val) |
single nucleotide variant |
Familial cancer of breast [RCV000821397]|Hereditary cancer-predisposing syndrome [RCV002319591] |
Chr16:23621392 [GRCh38]
Chr16:23632713 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3268T>C (p.Phe1090Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000814462] |
Chr16:23607946 [GRCh38]
Chr16:23619267 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+5G>A |
single nucleotide variant |
Familial cancer of breast [RCV000821488]|Hereditary cancer-predisposing syndrome [RCV002319908] |
Chr16:23621357 [GRCh38]
Chr16:23632678 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000824192]|Fanconi anemia complementation group N [RCV003485652]|Hereditary cancer-predisposing syndrome [RCV002319928]|not provided [RCV001030410]|not specified [RCV003493747] |
Chr16:23607882 [GRCh38]
Chr16:23619203 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs) |
deletion |
Familial cancer of breast [RCV000808733]|Hereditary cancer-predisposing syndrome [RCV002453822] |
Chr16:23629853..23629856 [GRCh38]
Chr16:23641174..23641177 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1665A>T (p.Lys555Asn) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004577533]|Familial cancer of breast [RCV000805630] |
Chr16:23634881 [GRCh38]
Chr16:23646202 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-214GAA[2] |
microsatellite |
not provided [RCV000837304] |
Chr16:23608218..23608220 [GRCh38]
Chr16:23619539..23619541 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile) |
indel |
Familial cancer of breast [RCV000795004]|Familial cancer of breast [RCV002477807]|Hereditary cancer-predisposing syndrome [RCV002440635] |
Chr16:23624057..23624058 [GRCh38]
Chr16:23635378..23635379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1776dup (p.His593fs) |
duplication |
Familial cancer of breast [RCV000793561] |
Chr16:23630377..23630378 [GRCh38]
Chr16:23641698..23641699 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1622G>C (p.Arg541Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001068059] |
Chr16:23634924 [GRCh38]
Chr16:23646245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1525G>C (p.Gly509Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000795534] |
Chr16:23635021 [GRCh38]
Chr16:23646342 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV000811967]|Hereditary cancer-predisposing syndrome [RCV001015206] |
Chr16:23629825 [GRCh38]
Chr16:23641146 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(23614092_23621361)_(23641357_?)del |
deletion |
Fanconi anemia complementation group N [RCV001030092] |
Chr16:23632682..23652678 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.227T>C (p.Ile76Thr) |
single nucleotide variant |
Carcinoma of colon [RCV001030135]|Familial cancer of breast [RCV001862432]|Hereditary cancer-predisposing syndrome [RCV004030909] |
Chr16:23636319 [GRCh38]
Chr16:23647640 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030273]|Hereditary cancer-predisposing syndrome [RCV004030912] |
Chr16:23630182 [GRCh38]
Chr16:23641503 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2345C>T (p.Pro782Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001041454]|not provided [RCV001030298] |
Chr16:23629809 [GRCh38]
Chr16:23641130 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.2835-281_3113+1374del |
deletion |
Familial cancer of breast [RCV001030352] |
Chr16:23619334..23635329 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003473528]|Hereditary cancer-predisposing syndrome [RCV004030102]|not provided [RCV000985888] |
Chr16:23630235 [GRCh38]
Chr16:23641556 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.466A>G (p.Ile156Val) |
single nucleotide variant |
Familial cancer of breast [RCV000807125]|Hereditary cancer-predisposing syndrome [RCV002336646] |
Chr16:23636080 [GRCh38]
Chr16:23647401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1295A>G (p.His432Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000807189] |
Chr16:23635251 [GRCh38]
Chr16:23646572 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23629194)_(23641167_?)dup |
duplication |
Familial cancer of breast [RCV001031601] |
Chr16:23640515..23652488 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2131G>T (p.Val711Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000796199]|Hereditary cancer-predisposing syndrome [RCV004027558] |
Chr16:23630023 [GRCh38]
Chr16:23641344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.2587-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV002026378] |
Chr16:23626399 [GRCh38]
Chr16:23637720 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter) |
duplication |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV001090198]|Familial cancer of breast [RCV001383117] |
Chr16:23635010..23635011 [GRCh38]
Chr16:23646331..23646332 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2996G>C (p.Gly999Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000796484] |
Chr16:23622969 [GRCh38]
Chr16:23634290 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2564T>C (p.Leu855Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000794260]|Hereditary cancer-predisposing syndrome [RCV002424806]|not provided [RCV004696995]|not specified [RCV003321735] |
Chr16:23629226 [GRCh38]
Chr16:23640547 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1202G>T (p.Gly401Val) |
single nucleotide variant |
Familial cancer of breast [RCV000791992]|Hereditary cancer-predisposing syndrome [RCV001010205] |
Chr16:23635344 [GRCh38]
Chr16:23646665 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val) |
single nucleotide variant |
Familial cancer of breast [RCV000792136]|Hereditary cancer-predisposing syndrome [RCV004027409] |
Chr16:23607937 [GRCh38]
Chr16:23619258 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs) |
duplication |
Familial cancer of breast [RCV000989554]|Hereditary cancer-predisposing syndrome [RCV002434376] |
Chr16:23624069..23624070 [GRCh38]
Chr16:23635390..23635391 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.212-50dup |
duplication |
Familial cancer of breast [RCV000989581] |
Chr16:23636380..23636381 [GRCh38]
Chr16:23647701..23647702 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter) |
single nucleotide variant |
Familial cancer of breast [RCV000794532]|Hereditary cancer-predisposing syndrome [RCV004027491] |
Chr16:23635536 [GRCh38]
Chr16:23646857 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.512T>C (p.Leu171Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023593] |
Chr16:23636034 [GRCh38]
Chr16:23647355 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614770)_(23619343_?)dup |
duplication |
Familial cancer of breast [RCV000801351] |
Chr16:23603449..23608022 [GRCh38]
Chr16:23614770..23619343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2707G>C (p.Ala903Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001044261]|Hereditary cancer-predisposing syndrome [RCV004031351] |
Chr16:23626277 [GRCh38]
Chr16:23637598 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-9T>C |
single nucleotide variant |
Familial cancer of breast [RCV002064413]|not provided [RCV000842955] |
Chr16:23623139 [GRCh38]
Chr16:23634460 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3164A>G (p.Tyr1055Cys) |
single nucleotide variant |
Familial cancer of breast [RCV000807061]|Hereditary cancer-predisposing syndrome [RCV004028273] |
Chr16:23614041 [GRCh38]
Chr16:23625362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2314G>A (p.Asp772Asn) |
single nucleotide variant |
Familial cancer of breast [RCV000814931] |
Chr16:23629840 [GRCh38]
Chr16:23641161 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3333T>A (p.Pro1111=) |
single nucleotide variant |
Familial cancer of breast [RCV001488927]|Hereditary cancer-predisposing syndrome [RCV002320131] |
Chr16:23607881 [GRCh38]
Chr16:23619202 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-2del |
deletion |
Familial cancer of breast [RCV000794185] |
Chr16:23638131 [GRCh38]
Chr16:23649452 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000794250]|Hereditary cancer-predisposing syndrome [RCV001524353] |
Chr16:23630373 [GRCh38]
Chr16:23641694 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000796364]|Hereditary cancer-predisposing syndrome [RCV002388440]|not specified [RCV002249510] |
Chr16:23635114 [GRCh38]
Chr16:23646435 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3044C>G (p.Thr1015Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000796457]|Hereditary cancer-predisposing syndrome [RCV004027565] |
Chr16:23621431 [GRCh38]
Chr16:23632752 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2282C>A (p.Ala761Asp) |
single nucleotide variant |
Familial cancer of breast [RCV000807363] |
Chr16:23629872 [GRCh38]
Chr16:23641193 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614770)_(23652488_?)dup |
duplication |
Familial cancer of breast [RCV000795427] |
Chr16:23603449..23641167 [GRCh38]
Chr16:23614770..23652488 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23634852)_(23638139_?)del |
deletion |
Familial cancer of breast [RCV000795437] |
Chr16:23634852..23638139 [GRCh38]
Chr16:23646173..23649460 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2972T>C (p.Val991Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000818923] |
Chr16:23622993 [GRCh38]
Chr16:23634314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.964G>A (p.Glu322Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000810795] |
Chr16:23635582 [GRCh38]
Chr16:23646903 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3455del (p.Pro1152fs) |
deletion |
Familial cancer of breast [RCV000822592] |
Chr16:23603565 [GRCh38]
Chr16:23614886 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser) |
single nucleotide variant |
Familial cancer of breast [RCV000808247]|Hereditary cancer-predisposing syndrome [RCV001012001] |
Chr16:23635024 [GRCh38]
Chr16:23646345 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1156dup (p.Thr386fs) |
duplication |
Familial cancer of breast [RCV000811041]|Hereditary cancer-predisposing syndrome [RCV001010033] |
Chr16:23635389..23635390 [GRCh38]
Chr16:23646710..23646711 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2623A>G (p.Met875Val) |
single nucleotide variant |
Familial cancer of breast [RCV000819619]|Hereditary cancer-predisposing syndrome [RCV002427041] |
Chr16:23626361 [GRCh38]
Chr16:23637682 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.392G>A (p.Arg131Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000808621]|Hereditary cancer-predisposing syndrome [RCV002370162] |
Chr16:23636154 [GRCh38]
Chr16:23647475 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000813235]|Hereditary cancer-predisposing syndrome [RCV001805889] |
Chr16:23629936 [GRCh38]
Chr16:23641257 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1081A>G (p.Thr361Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000816494] |
Chr16:23635465 [GRCh38]
Chr16:23646786 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.774T>C (p.Ser258=) |
single nucleotide variant |
Familial cancer of breast [RCV001458725] |
Chr16:23635772 [GRCh38]
Chr16:23647093 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2683G>T (p.Val895Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000800217]|Hereditary cancer-predisposing syndrome [RCV002458455] |
Chr16:23626301 [GRCh38]
Chr16:23637622 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1285A>G (p.Ile429Val) |
single nucleotide variant |
Familial cancer of breast [RCV000803604]|Hereditary cancer-predisposing syndrome [RCV001010753]|not provided [RCV001759532] |
Chr16:23635261 [GRCh38]
Chr16:23646582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1948G>A (p.Glu650Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000816900]|Hereditary cancer-predisposing syndrome [RCV002406864] |
Chr16:23630206 [GRCh38]
Chr16:23641527 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2534C>T (p.Pro845Leu) |
single nucleotide variant |
Familial cancer of breast [RCV000803754]|Hereditary cancer-predisposing syndrome [RCV002424864] |
Chr16:23629256 [GRCh38]
Chr16:23640577 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.474G>C (p.Gln158His) |
single nucleotide variant |
Familial cancer of breast [RCV000803956]|Hereditary breast ovarian cancer syndrome [RCV002225736]|Hereditary cancer-predisposing syndrome [RCV002336625] |
Chr16:23636072 [GRCh38]
Chr16:23647393 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000813912]|Hereditary cancer-predisposing syndrome [RCV002397684] |
Chr16:23638074 [GRCh38]
Chr16:23649395 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.448C>G (p.Gln150Glu) |
single nucleotide variant |
Familial cancer of breast [RCV000823287]|Hereditary cancer-predisposing syndrome [RCV003169050]|not provided [RCV001551971] |
Chr16:23636098 [GRCh38]
Chr16:23647419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23637840)_(23641167_?)del |
deletion |
Familial cancer of breast [RCV000805917] |
Chr16:23637840..23641167 [GRCh38]
Chr16:23649161..23652488 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1042del (p.Gln348fs) |
deletion |
Familial cancer of breast [RCV000820766]|Hereditary cancer-predisposing syndrome [RCV002390692] |
Chr16:23635504 [GRCh38]
Chr16:23646825 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2841G>C (p.Leu947Phe) |
single nucleotide variant |
Familial cancer of breast [RCV000814324] |
Chr16:23623124 [GRCh38]
Chr16:23634445 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1237A>C (p.Thr413Pro) |
single nucleotide variant |
Familial cancer of breast [RCV000811981] |
Chr16:23635309 [GRCh38]
Chr16:23646630 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs) |
deletion |
Familial cancer of breast [RCV000814528] |
Chr16:23635508..23635509 [GRCh38]
Chr16:23646829..23646830 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3:c.212-58A>C |
single nucleotide variant |
not provided [RCV000835943] |
Chr16:23647713 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2054A>G (p.Lys685Arg) |
single nucleotide variant |
Familial cancer of breast [RCV000824095] |
Chr16:23630100 [GRCh38]
Chr16:23641421 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.343G>T (p.Gly115Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001070132]|Hereditary cancer-predisposing syndrome [RCV001020314] |
Chr16:23636203 [GRCh38]
Chr16:23647524 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23634852)_(23641157_?)dup |
duplication |
Familial cancer of breast [RCV001031912] |
Chr16:23646173..23652478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.584T>C (p.Ile195Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001068133] |
Chr16:23635962 [GRCh38]
Chr16:23647283 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.388C>T (p.His130Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001861018]|Fanconi anemia complementation group N [RCV001119842]|Hereditary cancer-predisposing syndrome [RCV001021365]|not provided [RCV001030148] |
Chr16:23636158 [GRCh38]
Chr16:23647479 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3324C>T (p.Tyr1108=) |
single nucleotide variant |
Familial cancer of breast [RCV002067909]|Hereditary cancer-predisposing syndrome [RCV001180637] |
Chr16:23607890 [GRCh38]
Chr16:23619211 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1188C>G (p.Cys396Trp) |
single nucleotide variant |
Familial cancer of breast [RCV001044186]|Hereditary cancer-predisposing syndrome [RCV002327283] |
Chr16:23635358 [GRCh38]
Chr16:23646679 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs) |
duplication |
Familial cancer of breast [RCV001066853]|Hereditary cancer-predisposing syndrome [RCV002429722]|not provided [RCV002284462] |
Chr16:23629759..23629760 [GRCh38]
Chr16:23641080..23641081 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2897T>A (p.Ile966Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001066874] |
Chr16:23623068 [GRCh38]
Chr16:23634389 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.746C>T (p.Pro249Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001030171]|Hereditary cancer-predisposing syndrome [RCV002391085] |
Chr16:23635800 [GRCh38]
Chr16:23647121 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2091C>G (p.Gly697=) |
single nucleotide variant |
Familial cancer of breast [RCV001030278] |
Chr16:23630063 [GRCh38]
Chr16:23641384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3094A>T (p.Met1032Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001030378]|Hereditary cancer-predisposing syndrome [RCV002320223] |
Chr16:23621381 [GRCh38]
Chr16:23632702 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2768T>G (p.Val923Gly) |
single nucleotide variant |
Familial cancer of breast [RCV000993768] |
Chr16:23624075 [GRCh38]
Chr16:23635396 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.321T>C (p.Phe107=) |
single nucleotide variant |
Familial cancer of breast [RCV002068973]|Hereditary cancer-predisposing syndrome [RCV001019305] |
Chr16:23636225 [GRCh38]
Chr16:23647546 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.987A>T (p.Leu329=) |
single nucleotide variant |
Familial cancer of breast [RCV001443204]|Hereditary cancer-predisposing syndrome [RCV001019838] |
Chr16:23635559 [GRCh38]
Chr16:23646880 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3559T>C (p.Ter1187Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003500610]|Hereditary cancer-predisposing syndrome [RCV002337041]|not provided [RCV000985893] |
Chr16:23603461 [GRCh38]
Chr16:23614782 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-4T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020065] |
Chr16:23603673 [GRCh38]
Chr16:23614994 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1161T>G (p.Ser387=) |
single nucleotide variant |
Familial cancer of breast [RCV001394128]|Hereditary cancer-predisposing syndrome [RCV001010054] |
Chr16:23635385 [GRCh38]
Chr16:23646706 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002497334]|Familial cancer of breast [RCV003769426]|Hereditary cancer-predisposing syndrome [RCV001010230] |
Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.118del (p.Arg40fs) |
deletion |
Familial cancer of breast [RCV003455068]|Hereditary cancer-predisposing syndrome [RCV001010235] |
Chr16:23637943 [GRCh38]
Chr16:23649264 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.211+9A>G |
single nucleotide variant |
Familial cancer of breast [RCV001450273] |
Chr16:23637841 [GRCh38]
Chr16:23649162 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000989557] |
Chr16:23629729 [GRCh38]
Chr16:23641050 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala) |
single nucleotide variant |
Familial cancer of breast [RCV000989561] |
Chr16:23630038 [GRCh38]
Chr16:23641359 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-432A>G |
single nucleotide variant |
Familial cancer of breast [RCV000989584] |
Chr16:23638561 [GRCh38]
Chr16:23649882 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-23C>T |
single nucleotide variant |
Familial cancer of breast [RCV000989585] |
Chr16:23641180 [GRCh38]
Chr16:23652501 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.404C>T (p.Pro135Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001873348]|Hereditary cancer-predisposing syndrome [RCV001021747] |
Chr16:23636142 [GRCh38]
Chr16:23647463 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV003455108]|Hereditary cancer-predisposing syndrome [RCV001020063] |
Chr16:23603670 [GRCh38]
Chr16:23614991 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3269T>G (p.Phe1090Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019535] |
Chr16:23607945 [GRCh38]
Chr16:23619266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3275T>C (p.Leu1092Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001369048]|Hereditary cancer-predisposing syndrome [RCV001019593] |
Chr16:23607939 [GRCh38]
Chr16:23619260 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834G>C (p.Arg945Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001066483] |
Chr16:23624009 [GRCh38]
Chr16:23635330 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3458C>A (p.Pro1153His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020346] |
Chr16:23603562 [GRCh38]
Chr16:23614883 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3307G>T (p.Val1103Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001228456] |
Chr16:23607907 [GRCh38]
Chr16:23619228 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 |
copy number gain |
not provided [RCV001249228] |
Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2 |
not provided |
| NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001030260]|not provided [RCV004702588] |
Chr16:23630368 [GRCh38]
Chr16:23641689 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2587-404_2834+310del |
deletion |
Familial cancer of breast [RCV001030326] |
Chr16:23623699..23626801 [GRCh38]
Chr16:23635020..23638122 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2587-25A>G |
single nucleotide variant |
Familial cancer of breast [RCV001030330] |
Chr16:23626422 [GRCh38]
Chr16:23637743 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-3511_3201+191del |
deletion |
Familial cancer of breast [RCV001030384] |
Chr16:23613813..23617602 [GRCh38]
Chr16:23625134..23628923 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23603162)_(23603670_23607863)del |
deletion |
Familial cancer of breast [RCV001030413] |
Chr16:23614483..23614991 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455110]|Hereditary cancer-predisposing syndrome [RCV001020185] |
Chr16:23603625 [GRCh38]
Chr16:23614946 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer) |
microsatellite |
Familial cancer of breast [RCV001245959]|Hereditary cancer-predisposing syndrome [RCV002451600] |
Chr16:23629747..23629748 [GRCh38]
Chr16:23641068..23641069 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3447C>T (p.Ala1149=) |
single nucleotide variant |
Familial cancer of breast [RCV003769529]|Hereditary cancer-predisposing syndrome [RCV001020324] |
Chr16:23603573 [GRCh38]
Chr16:23614894 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3351-19C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001181434] |
Chr16:23603688 [GRCh38]
Chr16:23615009 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2755G>T (p.Val919Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003500654]|Hereditary cancer-predisposing syndrome [RCV001182038] |
Chr16:23624088 [GRCh38]
Chr16:23635409 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1364A>T (p.Asn455Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001175887] |
Chr16:23635182 [GRCh38]
Chr16:23646503 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.293dup (p.Thr99fs) |
duplication |
Familial cancer of breast [RCV003986055]|Hereditary cancer-predisposing syndrome [RCV001182344] |
Chr16:23636252..23636253 [GRCh38]
Chr16:23647573..23647574 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.14C>T (p.Pro5Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002559691]|Hereditary cancer-predisposing syndrome [RCV001176370] |
Chr16:23641144 [GRCh38]
Chr16:23652465 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2936G>T (p.Ser979Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176392] |
Chr16:23623029 [GRCh38]
Chr16:23634350 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA (p.Pro490fs) |
indel |
Familial cancer of breast [RCV001248045] |
Chr16:23635076..23635078 [GRCh38]
Chr16:23646397..23646399 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3351-48del |
deletion |
Familial cancer of breast [RCV000989547] |
Chr16:23603717 [GRCh38]
Chr16:23615038 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3332del (p.Pro1111fs) |
deletion |
Familial cancer of breast [RCV000989549]|Hereditary cancer-predisposing syndrome [RCV002320202] |
Chr16:23607882 [GRCh38]
Chr16:23619203 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.625del (p.Ser209fs) |
deletion |
Familial cancer of breast [RCV000989576] |
Chr16:23635921 [GRCh38]
Chr16:23647242 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.212-6C>T |
single nucleotide variant |
Familial cancer of breast [RCV000989578] |
Chr16:23636340 [GRCh38]
Chr16:23647661 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+19T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001184650] |
Chr16:23607845 [GRCh38]
Chr16:23619166 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3385G>T (p.Ala1129Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001876154]|Hereditary cancer-predisposing syndrome [RCV001184804] |
Chr16:23603635 [GRCh38]
Chr16:23614956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.277G>A (p.Gly93Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001865990]|not provided [RCV001564336] |
Chr16:23636269 [GRCh38]
Chr16:23647590 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+5A>G |
single nucleotide variant |
not specified [RCV001192770] |
Chr16:23629635 [GRCh38]
Chr16:23640956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3410T>C (p.Ile1137Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003448363]|Familial cancer of breast [RCV001043201]|Hereditary cancer-predisposing syndrome [RCV002451166]|not provided [RCV001593209] |
Chr16:23603610 [GRCh38]
Chr16:23614931 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+5del |
deletion |
Familial cancer of breast [RCV001875889]|Hereditary cancer-predisposing syndrome [RCV001178271]|not specified [RCV003493809] |
Chr16:23637845 [GRCh38]
Chr16:23649166 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3114-130A>C |
single nucleotide variant |
Familial cancer of breast [RCV001197816] |
Chr16:23614221 [GRCh38]
Chr16:23625542 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-5T>C |
single nucleotide variant |
not specified [RCV001201202] |
Chr16:23624099 [GRCh38]
Chr16:23635420 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003485687]|Malignant tumor of breast [RCV001201230] |
Chr16:23607963 [GRCh38]
Chr16:23619284 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2856T>G (p.Asp952Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001237130] |
Chr16:23623109 [GRCh38]
Chr16:23634430 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.998C>A (p.Thr333Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001223755]|Ovarian neoplasm [RCV002272420] |
Chr16:23635548 [GRCh38]
Chr16:23646869 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2014del (p.Glu672fs) |
deletion |
Familial cancer of breast [RCV001223673] |
Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3263del (p.Pro1088fs) |
deletion |
Familial cancer of breast [RCV001223672]|Gastric cancer [RCV003163743] |
Chr16:23607951 [GRCh38]
Chr16:23619272 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1965dup (p.Pro656fs) |
duplication |
Familial cancer of breast [RCV001203273]|Hereditary cancer-predisposing syndrome [RCV002418673]|not provided [RCV001572180] |
Chr16:23630188..23630189 [GRCh38]
Chr16:23641509..23641510 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2207C>G (p.Ala736Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001205004]|not provided [RCV004590221] |
Chr16:23629947 [GRCh38]
Chr16:23641268 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2328del (p.Phe776fs) |
deletion |
Familial cancer of breast [RCV001205879]|not provided [RCV001586048] |
Chr16:23629826 [GRCh38]
Chr16:23641147 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1391G>A (p.Arg464Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001222276]|Hereditary cancer-predisposing syndrome [RCV002393538] |
Chr16:23635155 [GRCh38]
Chr16:23646476 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.322A>T (p.Asn108Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001224425]|Hereditary cancer-predisposing syndrome [RCV002322089] |
Chr16:23636224 [GRCh38]
Chr16:23647545 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1749G>C (p.Leu583Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001242554] |
Chr16:23630405 [GRCh38]
Chr16:23641726 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3353T>A (p.Phe1118Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001222956] |
Chr16:23603667 [GRCh38]
Chr16:23614988 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1438A>G (p.Lys480Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001205351] |
Chr16:23635108 [GRCh38]
Chr16:23646429 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2320A>G (p.Lys774Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001239338]|Hereditary cancer-predisposing syndrome [RCV002447191]|not provided [RCV002305579] |
Chr16:23629834 [GRCh38]
Chr16:23641155 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2690T>C (p.Leu897Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001223384]|Hereditary cancer-predisposing syndrome [RCV002451521] |
Chr16:23626294 [GRCh38]
Chr16:23637615 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2020del (p.Asp674fs) |
deletion |
Familial cancer of breast [RCV001239480] |
Chr16:23630134 [GRCh38]
Chr16:23641455 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1824dup (p.Ile609fs) |
duplication |
Familial cancer of breast [RCV001237618] |
Chr16:23630329..23630330 [GRCh38]
Chr16:23641650..23641651 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3041dup (p.Thr1015fs) |
duplication |
Familial cancer of breast [RCV001234855] |
Chr16:23621433..23621434 [GRCh38]
Chr16:23632754..23632755 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2369A>G (p.Gln790Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001217816] |
Chr16:23629785 [GRCh38]
Chr16:23641106 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.135G>C (p.Lys45Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001223577] |
Chr16:23637926 [GRCh38]
Chr16:23649247 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2506dup (p.Val836fs) |
duplication |
Familial cancer of breast [RCV001225004] |
Chr16:23629647..23629648 [GRCh38]
Chr16:23640968..23640969 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.247C>T (p.His83Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001225033] |
Chr16:23636299 [GRCh38]
Chr16:23647620 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1477C>G (p.Pro493Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001238314] |
Chr16:23635069 [GRCh38]
Chr16:23646390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1351T>G (p.Leu451Val) |
single nucleotide variant |
Familial cancer of breast [RCV001223838]|Hereditary cancer-predisposing syndrome [RCV002379847] |
Chr16:23635195 [GRCh38]
Chr16:23646516 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2170T>G (p.Cys724Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001238169] |
Chr16:23629984 [GRCh38]
Chr16:23641305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2766A>G (p.Ile922Met) |
single nucleotide variant |
Familial cancer of breast [RCV001209935] |
Chr16:23624077 [GRCh38]
Chr16:23635398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001238219] |
Chr16:23624095 [GRCh38]
Chr16:23635416 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3052G>A (p.Glu1018Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180874] |
Chr16:23621423 [GRCh38]
Chr16:23632744 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.213A>G (p.Glu71=) |
single nucleotide variant |
Familial cancer of breast [RCV001232047] |
Chr16:23636333 [GRCh38]
Chr16:23647654 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2325A>G (p.Gln775=) |
single nucleotide variant |
Familial cancer of breast [RCV001214653] |
Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.858T>G (p.Pro286=) |
single nucleotide variant |
Familial cancer of breast [RCV001238040] |
Chr16:23635688 [GRCh38]
Chr16:23647009 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1751del (p.Asp584fs) |
deletion |
Familial cancer of breast [RCV001218271] |
Chr16:23630403 [GRCh38]
Chr16:23641724 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1177A>G (p.Lys393Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001239841] |
Chr16:23635369 [GRCh38]
Chr16:23646690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.823A>T (p.Thr275Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001221523]|Hereditary cancer-predisposing syndrome [RCV003584856] |
Chr16:23635723 [GRCh38]
Chr16:23647044 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1060T>A (p.Ser354Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001210065] |
Chr16:23635486 [GRCh38]
Chr16:23646807 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3461T>C (p.Val1154Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001210326] |
Chr16:23603559 [GRCh38]
Chr16:23614880 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.926T>A (p.Ile309Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001238587] |
Chr16:23635620 [GRCh38]
Chr16:23646941 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.790C>A (p.His264Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001238440] |
Chr16:23635756 [GRCh38]
Chr16:23647077 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001196352]|Hereditary cancer-predisposing syndrome [RCV003293986] |
Chr16:23629771 [GRCh38]
Chr16:23641092 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1937G>C (p.Arg646Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001235769] |
Chr16:23630217 [GRCh38]
Chr16:23641538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3296del (p.Thr1099fs) |
deletion |
Familial cancer of breast [RCV001222257] |
Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.806G>T (p.Gly269Val) |
single nucleotide variant |
Familial cancer of breast [RCV001212377]|Hereditary cancer-predisposing syndrome [RCV002418726] |
Chr16:23635740 [GRCh38]
Chr16:23647061 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2325A>T (p.Gln775His) |
single nucleotide variant |
Familial cancer of breast [RCV001204263] |
Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.493G>A (p.Gly165Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001204264] |
Chr16:23636053 [GRCh38]
Chr16:23647374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1502G>A (p.Arg501Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001204301]|Hereditary cancer-predisposing syndrome [RCV002393459] |
Chr16:23635044 [GRCh38]
Chr16:23646365 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684+6_1684+9del |
deletion |
Familial cancer of breast [RCV001216541] |
Chr16:23634853..23634856 [GRCh38]
Chr16:23646174..23646177 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV001207886] |
Chr16:23608014 [GRCh38]
Chr16:23619335 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1193T>G (p.Val398Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001219271]|Hereditary cancer-predisposing syndrome [RCV002339578] |
Chr16:23635353 [GRCh38]
Chr16:23646674 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3290C>T (p.Pro1097Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001215360]|Hereditary cancer-predisposing syndrome [RCV002447088] |
Chr16:23607924 [GRCh38]
Chr16:23619245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2777_2779del (p.Pro926_Asp927delinsHis) |
deletion |
Familial cancer of breast [RCV001205540] |
Chr16:23624064..23624066 [GRCh38]
Chr16:23635385..23635387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.983C>G (p.Ser328Cys) |
single nucleotide variant |
Familial cancer of breast [RCV004572921]|not specified [RCV003317952] |
Chr16:23635563 [GRCh38]
Chr16:23646884 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3513G>C (p.Leu1171Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001222917]|Hereditary cancer-predisposing syndrome [RCV001175940]|not provided [RCV000985892] |
Chr16:23603507 [GRCh38]
Chr16:23614828 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003316918] |
Chr16:23634986 [GRCh38]
Chr16:23646307 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs) |
deletion |
Familial cancer of breast [RCV000989560] |
Chr16:23630025..23630037 [GRCh38]
Chr16:23641346..23641358 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1685-28T>C |
single nucleotide variant |
Familial cancer of breast [RCV000989567] |
Chr16:23630497 [GRCh38]
Chr16:23641818 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2406T>G (p.Cys802Trp) |
single nucleotide variant |
Familial cancer of breast [RCV001213054] |
Chr16:23629748 [GRCh38]
Chr16:23641069 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2644T>C (p.Cys882Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182450] |
Chr16:23626340 [GRCh38]
Chr16:23637661 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) |
duplication |
Familial cancer of breast [RCV001212590] |
Chr16:23630172..23630173 [GRCh38]
Chr16:23641493..23641494 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2016dup (p.Glu673fs) |
duplication |
Familial cancer of breast [RCV001229089] |
Chr16:23630137..23630138 [GRCh38]
Chr16:23641458..23641459 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2304T>C (p.Cys768=) |
single nucleotide variant |
Familial cancer of breast [RCV001429765]|Hereditary cancer-predisposing syndrome [RCV001184642] |
Chr16:23629850 [GRCh38]
Chr16:23641171 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2457del (p.Glu820fs) |
deletion |
not provided [RCV001090342] |
Chr16:23629697 [GRCh38]
Chr16:23641018 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2109A>C (p.Leu703Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001046860] |
Chr16:23630045 [GRCh38]
Chr16:23641366 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+11C>T |
single nucleotide variant |
Familial cancer of breast [RCV002068219]|Hereditary cancer-predisposing syndrome [RCV001178272] |
Chr16:23638059 [GRCh38]
Chr16:23649380 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.784C>G (p.Leu262Val) |
single nucleotide variant |
Familial cancer of breast [RCV001201835]|Hereditary cancer-predisposing syndrome [RCV004033512] |
Chr16:23635762 [GRCh38]
Chr16:23647083 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.427C>T (p.Leu143=) |
single nucleotide variant |
Familial cancer of breast [RCV001445954]|Hereditary cancer-predisposing syndrome [RCV001022202] |
Chr16:23636119 [GRCh38]
Chr16:23647440 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3374A>T (p.Asp1125Val) |
single nucleotide variant |
Familial cancer of breast [RCV001230305] |
Chr16:23603646 [GRCh38]
Chr16:23614967 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+1del |
deletion |
not provided [RCV001572914] |
Chr16:23622968 [GRCh38]
Chr16:23634289 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3193dup (p.Ser1065fs) |
duplication |
Familial cancer of breast [RCV003500835]|not provided [RCV003318159] |
Chr16:23614011..23614012 [GRCh38]
Chr16:23625332..23625333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del |
deletion |
Malignant tumor of breast [RCV001582348] |
Chr16:23625324..23625413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2514+95C>T |
single nucleotide variant |
not provided [RCV001551527] |
Chr16:23629545 [GRCh38]
Chr16:23640866 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+145C>T |
single nucleotide variant |
not provided [RCV001562585] |
Chr16:23622824 [GRCh38]
Chr16:23634145 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23614482)_(23637719_23640524)del |
deletion |
Malignant tumor of breast [RCV001553685] |
Chr16:23614482..23637719 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3114-16_3114-11del |
deletion |
Fanconi anemia complementation group N [RCV001580207] |
Chr16:23614102..23614107 [GRCh38]
Chr16:23625423..23625428 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2127T>C (p.Asn709=) |
single nucleotide variant |
Familial cancer of breast [RCV001431506]|Hereditary cancer-predisposing syndrome [RCV001014546] |
Chr16:23630027 [GRCh38]
Chr16:23641348 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1644A>C (p.Ser548=) |
single nucleotide variant |
Familial cancer of breast [RCV001408736] |
Chr16:23634902 [GRCh38]
Chr16:23646223 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1671T>C (p.Phe557=) |
single nucleotide variant |
Familial cancer of breast [RCV001424782]|Hereditary cancer-predisposing syndrome [RCV002400046] |
Chr16:23634875 [GRCh38]
Chr16:23646196 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2682A>C (p.Val894=) |
single nucleotide variant |
Familial cancer of breast [RCV001450718]|Hereditary cancer-predisposing syndrome [RCV002427311] |
Chr16:23626302 [GRCh38]
Chr16:23637623 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-7A>T |
single nucleotide variant |
Familial cancer of breast [RCV001410022] |
Chr16:23614098 [GRCh38]
Chr16:23625419 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.336C>A (p.Gly112=) |
single nucleotide variant |
Familial cancer of breast [RCV000932629]|Hereditary cancer-predisposing syndrome [RCV004029593] |
Chr16:23636210 [GRCh38]
Chr16:23647531 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1587A>C (p.Pro529=) |
single nucleotide variant |
Familial cancer of breast [RCV001443589] |
Chr16:23634959 [GRCh38]
Chr16:23646280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+9A>G |
single nucleotide variant |
Familial cancer of breast [RCV000918936] |
Chr16:23622960 [GRCh38]
Chr16:23634281 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2727T>G (p.Leu909=) |
single nucleotide variant |
Familial cancer of breast [RCV001393217]|Hereditary cancer-predisposing syndrome [RCV002427425] |
Chr16:23626257 [GRCh38]
Chr16:23637578 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2208C>T (p.Ala736=) |
single nucleotide variant |
Familial cancer of breast [RCV001421669]|Hereditary cancer-predisposing syndrome [RCV002427302] |
Chr16:23629946 [GRCh38]
Chr16:23641267 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.93A>G (p.Thr31=) |
single nucleotide variant |
Familial cancer of breast [RCV001421672]|Hereditary cancer-predisposing syndrome [RCV001525133] |
Chr16:23638085 [GRCh38]
Chr16:23649406 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2943T>C (p.Ser981=) |
single nucleotide variant |
Familial cancer of breast [RCV001407891]|Hereditary cancer-predisposing syndrome [RCV003363036] |
Chr16:23623022 [GRCh38]
Chr16:23634343 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1275G>A (p.Val425=) |
single nucleotide variant |
Familial cancer of breast [RCV000936731]|Hereditary cancer-predisposing syndrome [RCV002372610] |
Chr16:23635271 [GRCh38]
Chr16:23646592 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2595A>T (p.Ser865=) |
single nucleotide variant |
Familial cancer of breast [RCV001501840] |
Chr16:23626389 [GRCh38]
Chr16:23637710 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1899A>G (p.Lys633=) |
single nucleotide variant |
Familial cancer of breast [RCV001483408]|Hereditary cancer-predisposing syndrome [RCV002409232] |
Chr16:23630255 [GRCh38]
Chr16:23641576 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.444G>A (p.Lys148=) |
single nucleotide variant |
Familial cancer of breast [RCV001489744] |
Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1917G>A (p.Glu639=) |
single nucleotide variant |
Familial cancer of breast [RCV001461212]|Hereditary cancer-predisposing syndrome [RCV002409078] |
Chr16:23630237 [GRCh38]
Chr16:23641558 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2025T>C (p.Leu675=) |
single nucleotide variant |
not provided [RCV000941567] |
Chr16:23630129 [GRCh38]
Chr16:23641450 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2367G>A (p.Leu789=) |
single nucleotide variant |
Familial cancer of breast [RCV001437322]|Hereditary cancer-predisposing syndrome [RCV001015301]|not provided [RCV003478598] |
Chr16:23629787 [GRCh38]
Chr16:23641108 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1563C>T (p.Thr521=) |
single nucleotide variant |
Familial cancer of breast [RCV001458182] |
Chr16:23634983 [GRCh38]
Chr16:23646304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.498T>C (p.Thr166=) |
single nucleotide variant |
Familial cancer of breast [RCV001478239] |
Chr16:23636048 [GRCh38]
Chr16:23647369 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2670T>A (p.Ala890=) |
single nucleotide variant |
Familial cancer of breast [RCV001427072] |
Chr16:23626314 [GRCh38]
Chr16:23637635 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3036T>G (p.Thr1012=) |
single nucleotide variant |
Familial cancer of breast [RCV001450296] |
Chr16:23621439 [GRCh38]
Chr16:23632760 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2563C>T (p.Leu855=) |
single nucleotide variant |
Familial cancer of breast [RCV001419440]|Hereditary cancer-predisposing syndrome [RCV001177248] |
Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2040A>C (p.Gly680=) |
single nucleotide variant |
Familial cancer of breast [RCV001457890] |
Chr16:23630114 [GRCh38]
Chr16:23641435 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1578T>C (p.His526=) |
single nucleotide variant |
Familial cancer of breast [RCV001415394]|Hereditary cancer-predisposing syndrome [RCV003169503] |
Chr16:23634968 [GRCh38]
Chr16:23646289 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2568A>G (p.Gln856=) |
single nucleotide variant |
Familial cancer of breast [RCV001439887]|Hereditary cancer-predisposing syndrome [RCV002427388] |
Chr16:23629222 [GRCh38]
Chr16:23640543 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1382G>T (p.Ser461Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001218420]|not provided [RCV001751414] |
Chr16:23635164 [GRCh38]
Chr16:23646485 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter) |
duplication |
Familial cancer of breast [RCV001210505] |
Chr16:23635319..23635320 [GRCh38]
Chr16:23646640..23646641 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3034A>C (p.Thr1012Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001340546]|Hereditary cancer-predisposing syndrome [RCV001192072] |
Chr16:23621441 [GRCh38]
Chr16:23632762 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.782_783del (p.His261fs) |
deletion |
Familial cancer of breast [RCV001238879] |
Chr16:23635763..23635764 [GRCh38]
Chr16:23647084..23647085 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1968A>G (p.Pro656=) |
single nucleotide variant |
Familial cancer of breast [RCV002068336]|Hereditary cancer-predisposing syndrome [RCV001182861] |
Chr16:23630186 [GRCh38]
Chr16:23641507 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1803del (p.Lys601fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001187237] |
Chr16:23630351 [GRCh38]
Chr16:23641672 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1582G>A (p.Glu528Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180165] |
Chr16:23634964 [GRCh38]
Chr16:23646285 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2025T>G (p.Leu675=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001187430] |
Chr16:23630129 [GRCh38]
Chr16:23641450 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.896_897del (p.Ser299fs) |
microsatellite |
Familial cancer of breast [RCV001207982]|Hereditary cancer-predisposing syndrome [RCV001180283] |
Chr16:23635649..23635650 [GRCh38]
Chr16:23646970..23646971 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3344C>T (p.Ala1115Val) |
single nucleotide variant |
Familial cancer of breast [RCV001219084] |
Chr16:23607870 [GRCh38]
Chr16:23619191 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1946A>C (p.Lys649Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001187785]|not provided [RCV004761961] |
Chr16:23630208 [GRCh38]
Chr16:23641529 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.473A>T (p.Gln158Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001187812] |
Chr16:23636073 [GRCh38]
Chr16:23647394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2650G>A (p.Glu884Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002559999]|Hereditary cancer-predisposing syndrome [RCV001187951] |
Chr16:23626334 [GRCh38]
Chr16:23637655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-8T>G |
single nucleotide variant |
Familial cancer of breast [RCV001212825]|Hereditary cancer-predisposing syndrome [RCV003584848]|PALB2-related disorder [RCV004740615] |
Chr16:23626405 [GRCh38]
Chr16:23637726 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001244884] |
Chr16:23635135 [GRCh38]
Chr16:23646456 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-18T>C |
single nucleotide variant |
Familial cancer of breast [RCV002560920]|Hereditary cancer-predisposing syndrome [RCV001188158] |
Chr16:23623148 [GRCh38]
Chr16:23634469 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.975T>G (p.Ile325Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001188226] |
Chr16:23635571 [GRCh38]
Chr16:23646892 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-15C>G |
single nucleotide variant |
Familial cancer of breast [RCV002559151]|Hereditary cancer-predisposing syndrome [RCV001188503] |
Chr16:23624109 [GRCh38]
Chr16:23635430 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2528A>T (p.Glu843Val) |
single nucleotide variant |
Familial cancer of breast [RCV001050472] |
Chr16:23629262 [GRCh38]
Chr16:23640583 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2999del (p.Gly1000fs) |
deletion |
Familial cancer of breast [RCV001219418] |
Chr16:23621476 [GRCh38]
Chr16:23632797 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1556C>G (p.Ala519Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001205489]|Hereditary cancer-predisposing syndrome [RCV002402592] |
Chr16:23634990 [GRCh38]
Chr16:23646311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.419del (p.Lys140fs) |
deletion |
Familial cancer of breast [RCV001243527] |
Chr16:23636127 [GRCh38]
Chr16:23647448 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs) |
microsatellite |
Familial cancer of breast [RCV001859135]|Hereditary cancer-predisposing syndrome [RCV001189228] |
Chr16:23635098..23635099 [GRCh38]
Chr16:23646419..23646420 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1533A>T (p.Arg511Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001245341]|not provided [RCV002274158] |
Chr16:23635013 [GRCh38]
Chr16:23646334 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.684A>G (p.Gln228=) |
single nucleotide variant |
Familial cancer of breast [RCV002068361]|Hereditary cancer-predisposing syndrome [RCV001183666] |
Chr16:23635862 [GRCh38]
Chr16:23647183 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1217C>A (p.Ala406Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176939] |
Chr16:23635329 [GRCh38]
Chr16:23646650 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1352T>A (p.Leu451Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001177020] |
Chr16:23635194 [GRCh38]
Chr16:23646515 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.184G>A (p.Asp62Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001216802]|Hereditary cancer-predisposing syndrome [RCV004034009] |
Chr16:23637877 [GRCh38]
Chr16:23649198 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.359G>C (p.Arg120Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001216863]|Familial cancer of breast [RCV002491672] |
Chr16:23636187 [GRCh38]
Chr16:23647508 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1869G>C (p.Lys623Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001216963] |
Chr16:23630285 [GRCh38]
Chr16:23641606 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.213A>C (p.Glu71Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160190]|not provided [RCV001030133] |
Chr16:23636333 [GRCh38]
Chr16:23647654 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.251T>A (p.Ile84Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004030910]|not provided [RCV001030138] |
Chr16:23636295 [GRCh38]
Chr16:23647616 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.285G>A (p.Lys95=) |
single nucleotide variant |
not provided [RCV001030140] |
Chr16:23636261 [GRCh38]
Chr16:23647582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.324C>T (p.Asn108=) |
single nucleotide variant |
Familial cancer of breast [RCV003607392]|Hereditary cancer-predisposing syndrome [RCV002445200]|not provided [RCV001030142] |
Chr16:23636222 [GRCh38]
Chr16:23647543 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.345A>G (p.Gly115=) |
single nucleotide variant |
not provided [RCV001030143] |
Chr16:23636201 [GRCh38]
Chr16:23647522 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.367G>A (p.Asp123Asn) |
single nucleotide variant |
not provided [RCV001030145] |
Chr16:23636179 [GRCh38]
Chr16:23647500 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.369C>T (p.Asp123=) |
single nucleotide variant |
Familial cancer of breast [RCV002067714]|not provided [RCV001030146] |
Chr16:23636177 [GRCh38]
Chr16:23647498 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.389A>T (p.His130Leu) |
single nucleotide variant |
not provided [RCV001030149] |
Chr16:23636157 [GRCh38]
Chr16:23647478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.426G>A (p.Lys142=) |
single nucleotide variant |
Familial cancer of breast [RCV001406578]|Hereditary cancer-predisposing syndrome [RCV002327241]|Malignant tumor of breast [RCV001355057]|not provided [RCV001030151] |
Chr16:23636120 [GRCh38]
Chr16:23647441 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.443A>G (p.Lys148Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160191]|not provided [RCV001030152] |
Chr16:23636103 [GRCh38]
Chr16:23647424 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.504A>G (p.Ser168=) |
single nucleotide variant |
not provided [RCV001030153] |
Chr16:23636042 [GRCh38]
Chr16:23647363 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.538G>T (p.Glu180Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003607393]|not provided [RCV001030156] |
Chr16:23636008 [GRCh38]
Chr16:23647329 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.641C>A (p.Thr214Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001326217]|Hereditary cancer-predisposing syndrome [RCV001805976]|not provided [RCV001030163] |
Chr16:23635905 [GRCh38]
Chr16:23647226 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.740C>T (p.Thr247Ile) |
single nucleotide variant |
not provided [RCV001030169] |
Chr16:23635806 [GRCh38]
Chr16:23647127 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.744T>C (p.Val248=) |
single nucleotide variant |
not provided [RCV001030170] |
Chr16:23635802 [GRCh38]
Chr16:23647123 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1296T>A (p.His432Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002552038]|not provided [RCV001030214] |
Chr16:23635250 [GRCh38]
Chr16:23646571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1340C>T (p.Ala447Val) |
single nucleotide variant |
not provided [RCV001030217]|not specified [RCV001174621] |
Chr16:23635206 [GRCh38]
Chr16:23646527 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1853A>T (p.Asp618Val) |
single nucleotide variant |
not provided [RCV001030264] |
Chr16:23630301 [GRCh38]
Chr16:23641622 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003607397]|Hereditary cancer-predisposing syndrome [RCV004030911]|not provided [RCV001030267] |
Chr16:23630247 [GRCh38]
Chr16:23641568 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1910C>A (p.Pro637His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409351]|not provided [RCV001030268] |
Chr16:23630244 [GRCh38]
Chr16:23641565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3104T>A (p.Ile1035Asn) |
single nucleotide variant |
not provided [RCV001030380] |
Chr16:23621371 [GRCh38]
Chr16:23632692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3134T>A (p.Leu1045His) |
single nucleotide variant |
not provided [RCV001030389] |
Chr16:23614071 [GRCh38]
Chr16:23625392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3135C>T (p.Leu1045=) |
single nucleotide variant |
not provided [RCV001030390] |
Chr16:23614070 [GRCh38]
Chr16:23625391 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.23603162_(23608013_23614003)del |
deletion |
not provided [RCV001030393] |
Chr16:23614483..23619334 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3255dup (p.Arg1086fs) |
duplication |
not provided [RCV001030402] |
Chr16:23607958..23607959 [GRCh38]
Chr16:23619279..23619280 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3288C>A (p.Asn1096Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001862434]|Hereditary cancer-predisposing syndrome [RCV002445201]|not provided [RCV001030404] |
Chr16:23607926 [GRCh38]
Chr16:23619247 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3301C>T (p.Leu1101Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001364776]|not provided [RCV001030406] |
Chr16:23607913 [GRCh38]
Chr16:23619234 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001227673]|Hereditary cancer-predisposing syndrome [RCV003365269] |
Chr16:23635431 [GRCh38]
Chr16:23646752 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2676A>G (p.Glu892=) |
single nucleotide variant |
Familial cancer of breast [RCV001227726] |
Chr16:23626308 [GRCh38]
Chr16:23637629 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3238A>G (p.Lys1080Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001185128] |
Chr16:23607976 [GRCh38]
Chr16:23619297 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.181C>T (p.Gln61Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001202645] |
Chr16:23637880 [GRCh38]
Chr16:23649201 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.314_315del (p.Glu105fs) |
deletion |
Familial cancer of breast [RCV001051399] |
Chr16:23636231..23636232 [GRCh38]
Chr16:23647552..23647553 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001044695]|Hereditary cancer-predisposing syndrome [RCV002400256]|PALB2-related disorder [RCV004740549] |
Chr16:23634993 [GRCh38]
Chr16:23646314 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2369_2372del (p.Gln790fs) |
deletion |
Familial cancer of breast [RCV001066537] |
Chr16:23629782..23629785 [GRCh38]
Chr16:23641103..23641106 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1226A>T (p.Tyr409Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001065229]|Hereditary cancer-predisposing syndrome [RCV003307908] |
Chr16:23635320 [GRCh38]
Chr16:23646641 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+20T>A |
single nucleotide variant |
Familial cancer of breast [RCV002558864]|Hereditary cancer-predisposing syndrome [RCV001177965] |
Chr16:23623989 [GRCh38]
Chr16:23635310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-9T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001190003] |
Chr16:23629284 [GRCh38]
Chr16:23640605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2285A>G (p.His762Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607415]|Hereditary cancer-predisposing syndrome [RCV001190079] |
Chr16:23629869 [GRCh38]
Chr16:23641190 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs) |
deletion |
Familial cancer of breast [RCV001205072]|Hereditary cancer-predisposing syndrome [RCV001190095] |
Chr16:23634927..23634933 [GRCh38]
Chr16:23646248..23646254 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.643G>A (p.Glu215Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001202961] |
Chr16:23635903 [GRCh38]
Chr16:23647224 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.21G>T (p.Lys7Asn) |
single nucleotide variant |
Carcinoma of colon [RCV001030102] |
Chr16:23641137 [GRCh38]
Chr16:23652458 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.247C>A (p.His83Asn) |
single nucleotide variant |
Carcinoma of colon [RCV001030137]|Familial cancer of breast [RCV003500641] |
Chr16:23636299 [GRCh38]
Chr16:23647620 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs) |
indel |
Familial cancer of breast [RCV001030213] |
Chr16:23635261 [GRCh38]
Chr16:23646582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2093T>C (p.Leu698Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001030279] |
Chr16:23630061 [GRCh38]
Chr16:23641382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.10:g.(23608013_23614003)_(23626398_23629203)del |
deletion |
Familial cancer of breast [RCV001030331] |
Chr16:23625324..23637719 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001030371]|Fanconi anemia complementation group N [RCV003339428]|Hereditary cancer-predisposing syndrome [RCV001180325] |
Chr16:23621426 [GRCh38]
Chr16:23632747 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2645G>C (p.Cys882Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001185653] |
Chr16:23626339 [GRCh38]
Chr16:23637660 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs) |
indel |
Familial cancer of breast [RCV001241932]|Hereditary cancer-predisposing syndrome [RCV001190295] |
Chr16:23607904..23607919 [GRCh38]
Chr16:23619225..23619240 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.287C>T (p.Thr96Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003607416]|Hereditary cancer-predisposing syndrome [RCV001190358] |
Chr16:23636259 [GRCh38]
Chr16:23647580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+9G>A |
single nucleotide variant |
Familial cancer of breast [RCV003117831]|Hereditary cancer-predisposing syndrome [RCV001190522] |
Chr16:23607855 [GRCh38]
Chr16:23619176 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3079C>G (p.Leu1027Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182592] |
Chr16:23621396 [GRCh38]
Chr16:23632717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.800C>T (p.Pro267Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001234390]|Hereditary cancer-predisposing syndrome [RCV004033238] |
Chr16:23635746 [GRCh38]
Chr16:23647067 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2999G>T (p.Gly1000Val) |
single nucleotide variant |
Familial cancer of breast [RCV001224417]|Hereditary cancer-predisposing syndrome [RCV003294073] |
Chr16:23621476 [GRCh38]
Chr16:23632797 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.709C>G (p.Leu237Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001190932]|not provided [RCV001760146]|not specified [RCV002465845] |
Chr16:23635837 [GRCh38]
Chr16:23647158 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+11C>T |
single nucleotide variant |
Familial cancer of breast [RCV002068147]|Hereditary cancer-predisposing syndrome [RCV001175784] |
Chr16:23623998 [GRCh38]
Chr16:23635319 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.526C>T (p.Leu176=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001183116] |
Chr16:23636020 [GRCh38]
Chr16:23647341 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1128T>C (p.Ser376=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001183409] |
Chr16:23635418 [GRCh38]
Chr16:23646739 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1150G>C (p.Glu384Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001206352] |
Chr16:23635396 [GRCh38]
Chr16:23646717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.444G>T (p.Lys148Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001181008] |
Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.934del (p.Ser312fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001191198] |
Chr16:23635612 [GRCh38]
Chr16:23646933 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.906C>A (p.Asn302Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001191359] |
Chr16:23635640 [GRCh38]
Chr16:23646961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.290dup (p.Ile98fs) |
duplication |
Familial cancer of breast [RCV001211727] |
Chr16:23636255..23636256 [GRCh38]
Chr16:23647576..23647577 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2(chr16:23619185-23619333)x1 |
copy number loss |
not provided [RCV001172105] |
Chr16:23619185..23619333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3392del (p.Ile1131fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001183833] |
Chr16:23603628 [GRCh38]
Chr16:23614949 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2586+8G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176656] |
Chr16:23629196 [GRCh38]
Chr16:23640517 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2624T>A (p.Met875Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001184194] |
Chr16:23626360 [GRCh38]
Chr16:23637681 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.694G>T (p.Gly232Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001217676]|Hereditary cancer-predisposing syndrome [RCV003584851] |
Chr16:23635852 [GRCh38]
Chr16:23647173 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2638G>A (p.Ala880Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001217706] |
Chr16:23626346 [GRCh38]
Chr16:23637667 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.232_233del (p.Val78fs) |
microsatellite |
Familial cancer of breast [RCV001221032]|Hereditary cancer-predisposing syndrome [RCV003584855] |
Chr16:23636313..23636314 [GRCh38]
Chr16:23647634..23647635 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer) |
deletion |
Familial cancer of breast [RCV001224985] |
Chr16:23626373..23626380 [GRCh38]
Chr16:23637694..23637701 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.918T>G (p.Asn306Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018989] |
Chr16:23635628 [GRCh38]
Chr16:23646949 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1838A>G (p.Gln613Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001243673]|Hereditary cancer-predisposing syndrome [RCV004034758] |
Chr16:23630316 [GRCh38]
Chr16:23641637 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.703dup (p.Thr235fs) |
duplication |
Familial cancer of breast [RCV002560886]|Hereditary cancer-predisposing syndrome [RCV001186381] |
Chr16:23635842..23635843 [GRCh38]
Chr16:23647163..23647164 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1048C>G (p.Gln350Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001875923]|Hereditary cancer-predisposing syndrome [RCV001179162]|not provided [RCV003478708] |
Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-12_2515-11del |
deletion |
Familial cancer of breast [RCV002069154]|Hereditary cancer-predisposing syndrome [RCV001191490] |
Chr16:23629286..23629287 [GRCh38]
Chr16:23640607..23640608 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001191364] |
Chr16:23636310 [GRCh38]
Chr16:23647631 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3377A>T (p.His1126Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001184459] |
Chr16:23603643 [GRCh38]
Chr16:23614964 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001300771]|Hereditary cancer-predisposing syndrome [RCV001184627] |
Chr16:23635293 [GRCh38]
Chr16:23646614 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2524G>A (p.Ala842Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001177829] |
Chr16:23629266 [GRCh38]
Chr16:23640587 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.464T>G (p.Phe155Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001217878] |
Chr16:23636082 [GRCh38]
Chr16:23647403 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603313)_(23603679_?)del |
deletion |
Familial cancer of breast [RCV001031969] |
Chr16:23614634..23615000 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.514T>C (p.Ser172Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001068142] |
Chr16:23636032 [GRCh38]
Chr16:23647353 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.621A>T (p.Pro207=) |
single nucleotide variant |
Familial cancer of breast [RCV001460012]|Hereditary cancer-predisposing syndrome [RCV001186787] |
Chr16:23635925 [GRCh38]
Chr16:23647246 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.942A>G (p.Gln314=) |
single nucleotide variant |
Familial cancer of breast [RCV002559200]|Hereditary cancer-predisposing syndrome [RCV001191735] |
Chr16:23635604 [GRCh38]
Chr16:23646925 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-15C>A |
single nucleotide variant |
Familial cancer of breast [RCV002069179]|Hereditary cancer-predisposing syndrome [RCV001192051] |
Chr16:23621493 [GRCh38]
Chr16:23632814 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1115G>T (p.Ser372Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178291] |
Chr16:23635431 [GRCh38]
Chr16:23646752 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3294GAC[1] (p.Thr1100del) |
microsatellite |
Familial cancer of breast [RCV001218153] |
Chr16:23607915..23607917 [GRCh38]
Chr16:23619236..23619238 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2586+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV001221542] |
Chr16:23629203 [GRCh38]
Chr16:23640524 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2586+3C>G |
single nucleotide variant |
Familial cancer of breast [RCV001221541] |
Chr16:23629201 [GRCh38]
Chr16:23640522 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.577A>G (p.Thr193Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001244167]|Hereditary cancer-predisposing syndrome [RCV002357041]|not specified [RCV003493830] |
Chr16:23635969 [GRCh38]
Chr16:23647290 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3040C>A (p.Leu1014Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001244222] |
Chr16:23621435 [GRCh38]
Chr16:23632756 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1089T>C (p.Asp363=) |
single nucleotide variant |
Familial cancer of breast [RCV000989573]|Hereditary cancer-predisposing syndrome [RCV001009882] |
Chr16:23635457 [GRCh38]
Chr16:23646778 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2679T>C (p.Asp893=) |
single nucleotide variant |
Familial cancer of breast [RCV000935606]|Hereditary cancer-predisposing syndrome [RCV002427329] |
Chr16:23626305 [GRCh38]
Chr16:23637626 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.618T>A (p.Leu206=) |
single nucleotide variant |
Familial cancer of breast [RCV001484730]|Hereditary cancer-predisposing syndrome [RCV001024987] |
Chr16:23635928 [GRCh38]
Chr16:23647249 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2055A>G (p.Lys685=) |
single nucleotide variant |
Familial cancer of breast [RCV001414456]|not provided [RCV000934425] |
Chr16:23630099 [GRCh38]
Chr16:23641420 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1566A>G (p.Pro522=) |
single nucleotide variant |
Familial cancer of breast [RCV001495441]|Hereditary cancer-predisposing syndrome [RCV001186186]|not provided [RCV000985886] |
Chr16:23634980 [GRCh38]
Chr16:23646301 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3126T>C (p.Thr1042=) |
single nucleotide variant |
Familial cancer of breast [RCV002857891] |
Chr16:23614079 [GRCh38]
Chr16:23625400 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+241TTTG[3] |
microsatellite |
not provided [RCV001552151] |
Chr16:23625980..23625983 [GRCh38]
Chr16:23637301..23637304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.874C>A (p.Gln292Lys) |
single nucleotide variant |
Familial cancer of breast [RCV000989574] |
Chr16:23635672 [GRCh38]
Chr16:23646993 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-1G>T |
single nucleotide variant |
Familial cancer of breast [RCV000989577] |
Chr16:23636335 [GRCh38]
Chr16:23647656 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607576]|Hereditary cancer-predisposing syndrome [RCV004285639]|not provided [RCV003230139] |
Chr16:23603563 [GRCh38]
Chr16:23614884 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 |
copy number gain |
not provided [RCV002472599] |
Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002568975]|Hereditary cancer-predisposing syndrome [RCV002377913]|not provided [RCV001549668] |
Chr16:23635827 [GRCh38]
Chr16:23647148 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2989G>A (p.Asp997Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256994] |
Chr16:23622976 [GRCh38]
Chr16:23634297 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2243C>T (p.Thr748Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368069]|not provided [RCV003237156] |
Chr16:23629911 [GRCh38]
Chr16:23641232 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2591C>A (p.Pro864His) |
single nucleotide variant |
Familial cancer of breast [RCV003607434]|Hereditary cancer-predisposing syndrome [RCV002258423] |
Chr16:23626393 [GRCh38]
Chr16:23637714 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+104A>T |
single nucleotide variant |
not provided [RCV001566227] |
Chr16:23623905 [GRCh38]
Chr16:23635226 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-29C>T |
single nucleotide variant |
not specified [RCV002466163] |
Chr16:23630498 [GRCh38]
Chr16:23641819 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1220A>G (p.Glu407Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001207195]|Hereditary cancer-predisposing syndrome [RCV001010387] |
Chr16:23635326 [GRCh38]
Chr16:23646647 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.419dup (p.Gln141fs) |
duplication |
Familial cancer of breast [RCV001210284]|Hereditary cancer-predisposing syndrome [RCV001022029] |
Chr16:23636126..23636127 [GRCh38]
Chr16:23647447..23647448 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.123del (p.Glu42fs) |
deletion |
Familial cancer of breast [RCV001030123] |
Chr16:23637938 [GRCh38]
Chr16:23649259 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2891_2905del (p.Gly964_Ala968del) |
deletion |
Hereditary breast ovarian cancer syndrome [RCV001030646] |
Chr16:23623060..23623074 [GRCh38]
Chr16:23634381..23634395 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.966G>C (p.Glu322Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001045303]|Hereditary cancer-predisposing syndrome [RCV002379524] |
Chr16:23635580 [GRCh38]
Chr16:23646901 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3174A>C (p.Ser1058=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018972] |
Chr16:23614031 [GRCh38]
Chr16:23625352 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.448CAG[1] (p.Gln151del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001022613] |
Chr16:23636093..23636095 [GRCh38]
Chr16:23647414..23647416 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3434G>A (p.Gly1145Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001351007]|Hereditary cancer-predisposing syndrome [RCV001020301]|not provided [RCV001759704] |
Chr16:23603586 [GRCh38]
Chr16:23614907 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3458C>G (p.Pro1153Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020347] |
Chr16:23603562 [GRCh38]
Chr16:23614883 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.345A>T (p.Gly115=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020353] |
Chr16:23636201 [GRCh38]
Chr16:23647522 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3465T>C (p.Ser1155=) |
single nucleotide variant |
Familial cancer of breast [RCV003607386]|Hereditary cancer-predisposing syndrome [RCV001020367] |
Chr16:23603555 [GRCh38]
Chr16:23614876 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3471A>C (p.Gln1157His) |
single nucleotide variant |
Familial cancer of breast [RCV001207290]|Hereditary cancer-predisposing syndrome [RCV001020384] |
Chr16:23603549 [GRCh38]
Chr16:23614870 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.34G>C (p.Glu12Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002551827]|Hereditary cancer-predisposing syndrome [RCV001020465] |
Chr16:23641124 [GRCh38]
Chr16:23652445 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1044A>G (p.Gln348=) |
single nucleotide variant |
Familial cancer of breast [RCV001464099]|Hereditary cancer-predisposing syndrome [RCV001009787] |
Chr16:23635502 [GRCh38]
Chr16:23646823 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1064T>C (p.Leu355Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500613]|Hereditary cancer-predisposing syndrome [RCV001009803] |
Chr16:23635482 [GRCh38]
Chr16:23646803 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.37G>C (p.Glu13Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001209944]|Hereditary cancer-predisposing syndrome [RCV001021185]|not specified [RCV003490010] |
Chr16:23641121 [GRCh38]
Chr16:23652442 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+306C>G |
single nucleotide variant |
not provided [RCV001621043] |
Chr16:23625930 [GRCh38]
Chr16:23637251 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.211+320G>A |
single nucleotide variant |
not provided [RCV001654595] |
Chr16:23637530 [GRCh38]
Chr16:23648851 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3460G>A (p.Val1154Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020361] |
Chr16:23603560 [GRCh38]
Chr16:23614881 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001860983]|Hereditary cancer-predisposing syndrome [RCV001020375]|Malignant tumor of breast [RCV003226417] |
Chr16:23603551 [GRCh38]
Chr16:23614872 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3201+101A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225926]|not provided [RCV001718060] |
Chr16:23613903 [GRCh38]
Chr16:23625224 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1684+183TAAA[11] |
microsatellite |
not provided [RCV001639351] |
Chr16:23634639..23634640 [GRCh38]
Chr16:23645960..23645961 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3486G>A (p.Val1162=) |
single nucleotide variant |
Familial cancer of breast [RCV003607387]|Hereditary cancer-predisposing syndrome [RCV001020418] |
Chr16:23603534 [GRCh38]
Chr16:23614855 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+183TAAA[12] |
microsatellite |
not provided [RCV001715464] |
Chr16:23634639..23634640 [GRCh38]
Chr16:23645960..23645961 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3070del (p.Glu1024fs) |
deletion |
Breast carcinoma [RCV001554304] |
Chr16:23621405 [GRCh38]
Chr16:23632726 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.10:g.23641699A>G |
single nucleotide variant |
not provided [RCV001638216] |
Chr16:23641699 [GRCh38]
Chr16:23653020 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2996+264T>C |
single nucleotide variant |
not provided [RCV001674630] |
Chr16:23622705 [GRCh38]
Chr16:23634026 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1604G>C (p.Ser535Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001875788]|Hereditary cancer-predisposing syndrome [RCV001175795] |
Chr16:23634942 [GRCh38]
Chr16:23646263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.951A>T (p.Thr317=) |
single nucleotide variant |
Familial cancer of breast [RCV002068148]|Hereditary cancer-predisposing syndrome [RCV001175796] |
Chr16:23635595 [GRCh38]
Chr16:23646916 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1699C>A (p.His567Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001034831]|Hereditary cancer-predisposing syndrome [RCV001012685] |
Chr16:23630455 [GRCh38]
Chr16:23641776 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.713G>C (p.Arg238Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026082] |
Chr16:23635833 [GRCh38]
Chr16:23647154 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1732A>T (p.Ser578Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001222547]|Hereditary cancer-predisposing syndrome [RCV001012893] |
Chr16:23630422 [GRCh38]
Chr16:23641743 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1737T>C (p.Ala579=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012927] |
Chr16:23630417 [GRCh38]
Chr16:23641738 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3006A>G (p.Glu1002=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001184618] |
Chr16:23621469 [GRCh38]
Chr16:23632790 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+1_108+2insC |
insertion |
Familial cancer of breast [RCV003160172]|Hereditary cancer-predisposing syndrome [RCV001009842] |
Chr16:23638068..23638069 [GRCh38]
Chr16:23649389..23649390 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1371A>G (p.Glu457=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180396] |
Chr16:23635175 [GRCh38]
Chr16:23646496 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2826A>G (p.Arg942=) |
single nucleotide variant |
Familial cancer of breast [RCV001448858]|Hereditary cancer-predisposing syndrome [RCV001180489] |
Chr16:23624017 [GRCh38]
Chr16:23635338 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.952A>C (p.Ser318Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019461] |
Chr16:23635594 [GRCh38]
Chr16:23646915 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3277_3279del (p.Ile1093del) |
deletion |
Familial cancer of breast [RCV002551819]|Hereditary cancer-predisposing syndrome [RCV001019595] |
Chr16:23607935..23607937 [GRCh38]
Chr16:23619256..23619258 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3297G>T (p.Thr1099=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019757] |
Chr16:23607917 [GRCh38]
Chr16:23619238 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1223A>G (p.Tyr408Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001070442]|Hereditary cancer-predisposing syndrome [RCV003584819] |
Chr16:23635323 [GRCh38]
Chr16:23646644 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3177C>G (p.Val1059=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018982] |
Chr16:23614028 [GRCh38]
Chr16:23625349 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1819C>G (p.Leu607Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013298] |
Chr16:23630335 [GRCh38]
Chr16:23641656 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1444C>T (p.Leu482Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002559881]|Hereditary cancer-predisposing syndrome [RCV001184920] |
Chr16:23635102 [GRCh38]
Chr16:23646423 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1184C>G (p.Ser395Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003607408]|Hereditary cancer-predisposing syndrome [RCV001184921] |
Chr16:23635362 [GRCh38]
Chr16:23646683 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1181A>T (p.His394Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001359927]|Hereditary cancer-predisposing syndrome [RCV001184922] |
Chr16:23635365 [GRCh38]
Chr16:23646686 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.992A>C (p.Glu331Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019893] |
Chr16:23635554 [GRCh38]
Chr16:23646875 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001380164]|Hereditary cancer-predisposing syndrome [RCV001013510] |
Chr16:23630272 [GRCh38]
Chr16:23641593 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1926G>A (p.Met642Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003607373]|Hereditary cancer-predisposing syndrome [RCV001013733] |
Chr16:23630228 [GRCh38]
Chr16:23641549 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1928T>C (p.Phe643Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001345350]|Hereditary cancer-predisposing syndrome [RCV001013738] |
Chr16:23630226 [GRCh38]
Chr16:23641547 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.50dup (p.Leu17fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001185166] |
Chr16:23638127..23638128 [GRCh38]
Chr16:23649448..23649449 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2587-11C>T |
single nucleotide variant |
Familial cancer of breast [RCV002068499]|Hereditary cancer-predisposing syndrome [RCV001188278] |
Chr16:23626408 [GRCh38]
Chr16:23637729 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.317C>G (p.Ser106Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001360556]|Hereditary cancer-predisposing syndrome [RCV001188509] |
Chr16:23636229 [GRCh38]
Chr16:23647550 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-2A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001188593] |
Chr16:23621480 [GRCh38]
Chr16:23632801 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2265C>A (p.Cys755Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001188618] |
Chr16:23629889 [GRCh38]
Chr16:23641210 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1857del (p.Phe619fs) |
deletion |
Familial cancer of breast [RCV001070936]|Hereditary cancer-predisposing syndrome [RCV001179988] |
Chr16:23630297 [GRCh38]
Chr16:23641618 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1946_1949del (p.Lys649fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001013802] |
Chr16:23630205..23630208 [GRCh38]
Chr16:23641526..23641529 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1990A>G (p.Met664Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013971] |
Chr16:23630164 [GRCh38]
Chr16:23641485 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2018A>C (p.Glu673Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014065] |
Chr16:23630136 [GRCh38]
Chr16:23641457 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.930T>C (p.Ser310=) |
single nucleotide variant |
Familial cancer of breast [RCV001446755]|Hereditary cancer-predisposing syndrome [RCV001185513] |
Chr16:23635616 [GRCh38]
Chr16:23646937 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-20_1685-10del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001188764] |
Chr16:23630479..23630489 [GRCh38]
Chr16:23641800..23641810 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.489C>G (p.Val163=) |
single nucleotide variant |
Familial cancer of breast [RCV001406245]|Hereditary cancer-predisposing syndrome [RCV001188795] |
Chr16:23636057 [GRCh38]
Chr16:23647378 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+1_2748+2del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001188977] |
Chr16:23626234..23626235 [GRCh38]
Chr16:23637555..23637556 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1949A>C (p.Glu650Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001189031] |
Chr16:23630205 [GRCh38]
Chr16:23641526 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3550C>T (p.His1184Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020586] |
Chr16:23603470 [GRCh38]
Chr16:23614791 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.263T>G (p.Leu88Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001049605] |
Chr16:23636283 [GRCh38]
Chr16:23647604 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-10A>T |
single nucleotide variant |
Familial cancer of breast [RCV002560044]|Hereditary cancer-predisposing syndrome [RCV001189248] |
Chr16:23603679 [GRCh38]
Chr16:23615000 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1010del (p.Leu337fs) |
deletion |
Familial cancer of breast [RCV001049753] |
Chr16:23635536 [GRCh38]
Chr16:23646857 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.566G>A (p.Arg189Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001071619]|Hereditary cancer-predisposing syndrome [RCV002348487] |
Chr16:23635980 [GRCh38]
Chr16:23647301 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1170T>A (p.Ser390=) |
single nucleotide variant |
Familial cancer of breast [RCV001860628]|Hereditary cancer-predisposing syndrome [RCV001010123]|not specified [RCV003493771] |
Chr16:23635376 [GRCh38]
Chr16:23646697 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2045C>T (p.Ser682Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014174] |
Chr16:23630109 [GRCh38]
Chr16:23641430 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2048del (p.His683fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001014229] |
Chr16:23630106 [GRCh38]
Chr16:23641427 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.37G>T (p.Glu13Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002555489]|Hereditary cancer-predisposing syndrome [RCV001178653] |
Chr16:23641121 [GRCh38]
Chr16:23652442 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2441A>G (p.Glu814Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001036018] |
Chr16:23629713 [GRCh38]
Chr16:23641034 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.527_531del (p.Leu176fs) |
deletion |
Familial cancer of breast [RCV003455126]|Hereditary cancer-predisposing syndrome [RCV001023835] |
Chr16:23636015..23636019 [GRCh38]
Chr16:23647336..23647340 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2076G>T (p.Gln692His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014341] |
Chr16:23630078 [GRCh38]
Chr16:23641399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.961T>C (p.Leu321=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178742] |
Chr16:23635585 [GRCh38]
Chr16:23646906 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2898A>G (p.Ile966Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178745] |
Chr16:23623067 [GRCh38]
Chr16:23634388 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV001185110] |
Chr16:23638105..23638107 [GRCh38]
Chr16:23649426..23649428 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1937G>T (p.Arg646Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001242264]|Hereditary cancer-predisposing syndrome [RCV001189582] |
Chr16:23630217 [GRCh38]
Chr16:23641538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1939_1940insT (p.His647fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV001189799]|not specified [RCV001800962] |
Chr16:23630214..23630215 [GRCh38]
Chr16:23641535..23641536 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.485G>C (p.Cys162Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001050370]|Hereditary cancer-predisposing syndrome [RCV001191985] |
Chr16:23636061 [GRCh38]
Chr16:23647382 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2875G>A (p.Val959Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180764] |
Chr16:23623090 [GRCh38]
Chr16:23634411 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2146_2148del (p.Asn716del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001014569] |
Chr16:23630006..23630008 [GRCh38]
Chr16:23641327..23641329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2238A>G (p.Ala746=) |
single nucleotide variant |
Familial cancer of breast [RCV002068896]|Hereditary cancer-predisposing syndrome [RCV001014874] |
Chr16:23629916 [GRCh38]
Chr16:23641237 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2239T>C (p.Ser747Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001309047]|Hereditary cancer-predisposing syndrome [RCV001014877] |
Chr16:23629915 [GRCh38]
Chr16:23641236 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2296T>C (p.Ser766Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001366732]|Hereditary cancer-predisposing syndrome [RCV001015046] |
Chr16:23629858 [GRCh38]
Chr16:23641179 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2286T>C (p.His762=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015066] |
Chr16:23629868 [GRCh38]
Chr16:23641189 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1237A>G (p.Thr413Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178233] |
Chr16:23635309 [GRCh38]
Chr16:23646630 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2358dup (p.Thr787fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001015281] |
Chr16:23629795..23629796 [GRCh38]
Chr16:23641116..23641117 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2367G>C (p.Leu789=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015303]|not provided [RCV001030301] |
Chr16:23629787 [GRCh38]
Chr16:23641108 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2468T>C (p.Leu823Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015453] |
Chr16:23629686 [GRCh38]
Chr16:23641007 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2765T>C (p.Ile922Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178933]|not provided [RCV001751314] |
Chr16:23624078 [GRCh38]
Chr16:23635399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1932A>G (p.Gly644=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178934] |
Chr16:23630222 [GRCh38]
Chr16:23641543 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1815T>G (p.Ser605=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001178983] |
Chr16:23630339 [GRCh38]
Chr16:23641660 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3552_*11del (p.His1184_Ter1187delinsXaa) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001179006] |
Chr16:23603448..23603468 [GRCh38]
Chr16:23614769..23614789 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.514T>G (p.Ser172Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001186361] |
Chr16:23636032 [GRCh38]
Chr16:23647353 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2479A>G (p.Thr827Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015661] |
Chr16:23629675 [GRCh38]
Chr16:23640996 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2535T>A (p.Pro845=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015800] |
Chr16:23629255 [GRCh38]
Chr16:23640576 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2592T>C (p.Pro864=) |
single nucleotide variant |
Familial cancer of breast [RCV002068924]|Hereditary cancer-predisposing syndrome [RCV001015889] |
Chr16:23626392 [GRCh38]
Chr16:23637713 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+3C>T |
single nucleotide variant |
Familial cancer of breast [RCV001058330]|Hereditary cancer-predisposing syndrome [RCV001016017] |
Chr16:23629201 [GRCh38]
Chr16:23640522 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1221A>T (p.Glu407Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001186535] |
Chr16:23635325 [GRCh38]
Chr16:23646646 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:23640525-23641790)x1 |
copy number loss |
not provided [RCV001092322] |
Chr16:23640525..23641790 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3179G>A (p.Cys1060Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001190819] |
Chr16:23614026 [GRCh38]
Chr16:23625347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-10G>A |
single nucleotide variant |
Familial cancer of breast [RCV002069133]|Hereditary cancer-predisposing syndrome [RCV001190820] |
Chr16:23614101 [GRCh38]
Chr16:23625422 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2193A>G (p.Leu731=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001184639] |
Chr16:23629961 [GRCh38]
Chr16:23641282 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1942_1945delinsAAC (p.Leu648fs) |
indel |
Familial cancer of breast [RCV001030270] |
Chr16:23630209..23630212 [GRCh38]
Chr16:23641530..23641533 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu) |
single nucleotide variant |
Carcinoma of colon [RCV001030368]|Familial cancer of breast [RCV003607399] |
Chr16:23621449 [GRCh38]
Chr16:23632770 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603162)_(23608013_23614003)del |
deletion |
Familial cancer of breast [RCV001030399] |
Chr16:23614483..23619334 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001030422]|Hereditary cancer-predisposing syndrome [RCV001179895] |
Chr16:23603516 [GRCh38]
Chr16:23614837 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1316G>C (p.Gly439Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001056256]|Hereditary cancer-predisposing syndrome [RCV001010937]|not provided [RCV001549780] |
Chr16:23635230 [GRCh38]
Chr16:23646551 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001233697]|Familial cancer of breast [RCV002481818]|Hereditary cancer-predisposing syndrome [RCV001010962] |
Chr16:23635228 [GRCh38]
Chr16:23646549 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2602T>C (p.Cys868Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002551790]|Hereditary cancer-predisposing syndrome [RCV001016077] |
Chr16:23626382 [GRCh38]
Chr16:23637703 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2640C>A (p.Ala880=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016184] |
Chr16:23626344 [GRCh38]
Chr16:23637665 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2687C>G (p.Ser896Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003769486]|Hereditary cancer-predisposing syndrome [RCV001016297] |
Chr16:23626297 [GRCh38]
Chr16:23637618 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2689C>T (p.Leu897Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016301] |
Chr16:23626295 [GRCh38]
Chr16:23637616 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2721A>G (p.Glu907=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016403] |
Chr16:23626263 [GRCh38]
Chr16:23637584 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001234330]|Hereditary cancer-predisposing syndrome [RCV001016442] |
Chr16:23626248 [GRCh38]
Chr16:23637569 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2738A>T (p.His913Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016447] |
Chr16:23626246 [GRCh38]
Chr16:23637567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2783T>G (p.Val928Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016597] |
Chr16:23624060 [GRCh38]
Chr16:23635381 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2811A>G (p.Gly937=) |
single nucleotide variant |
Familial cancer of breast [RCV002068938]|Hereditary cancer-predisposing syndrome [RCV001016657] |
Chr16:23624032 [GRCh38]
Chr16:23635353 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter) |
insertion |
Familial cancer of breast [RCV003449576]|Hereditary cancer-predisposing syndrome [RCV001176247] |
Chr16:23630137..23630138 [GRCh38]
Chr16:23641458..23641459 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2461A>C (p.Asn821His) |
single nucleotide variant |
Familial cancer of breast [RCV002558882]|Hereditary cancer-predisposing syndrome [RCV001178473] |
Chr16:23629693 [GRCh38]
Chr16:23641014 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1496T>C (p.Leu499Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001191431] |
Chr16:23635050 [GRCh38]
Chr16:23646371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-108C>A |
single nucleotide variant |
Fanconi anemia complementation group N [RCV001121827] |
Chr16:23641265 [GRCh38]
Chr16:23652586 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3161C>T (p.Ser1054Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001045819]|Hereditary cancer-predisposing syndrome [RCV002320261] |
Chr16:23614044 [GRCh38]
Chr16:23625365 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3496G>A (p.Gly1166Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001067107]|Hereditary cancer-predisposing syndrome [RCV003584815]|not provided [RCV002511030] |
Chr16:23603524 [GRCh38]
Chr16:23614845 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.567A>C (p.Arg189Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001209430]|Hereditary cancer-predisposing syndrome [RCV001024396]|not provided [RCV001030158] |
Chr16:23635979 [GRCh38]
Chr16:23647300 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1351T>A (p.Leu451Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003473565]|Hereditary cancer-predisposing syndrome [RCV001011081] |
Chr16:23635195 [GRCh38]
Chr16:23646516 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1352dup (p.Leu451fs) |
duplication |
Familial cancer of breast [RCV001237599]|Hereditary cancer-predisposing syndrome [RCV001011085] |
Chr16:23635193..23635194 [GRCh38]
Chr16:23646514..23646515 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1338T>G (p.Asp446Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011117] |
Chr16:23635208 [GRCh38]
Chr16:23646529 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016698] |
Chr16:23624019 [GRCh38]
Chr16:23635340 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2846G>T (p.Cys949Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016774] |
Chr16:23623119 [GRCh38]
Chr16:23634440 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.100del (p.Arg34fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001016979] |
Chr16:23638078 [GRCh38]
Chr16:23649399 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001057150]|Hereditary cancer-predisposing syndrome [RCV001016993]|Malignant tumor of breast [RCV004689957] |
Chr16:23635536 [GRCh38]
Chr16:23646857 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.876A>G (p.Gln292=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001179427] |
Chr16:23635670 [GRCh38]
Chr16:23646991 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.803A>G (p.Lys268Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001862939]|Hereditary cancer-predisposing syndrome [RCV001186699] |
Chr16:23635743 [GRCh38]
Chr16:23647064 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3252G>C (p.Ser1084=) |
single nucleotide variant |
Familial cancer of breast [RCV001470783]|Hereditary cancer-predisposing syndrome [RCV001186773] |
Chr16:23607962 [GRCh38]
Chr16:23619283 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2789A>G (p.Asn930Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002559113]|Hereditary cancer-predisposing syndrome [RCV001186775] |
Chr16:23624054 [GRCh38]
Chr16:23635375 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.310C>T (p.Pro104Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001875941]|Hereditary cancer-predisposing syndrome [RCV001179524] |
Chr16:23636236 [GRCh38]
Chr16:23647557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3243G>C (p.Glu1081Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002295331]|Hereditary cancer-predisposing syndrome [RCV001179527] |
Chr16:23607971 [GRCh38]
Chr16:23619292 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.503C>G (p.Ser168Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003449610]|Hereditary cancer-predisposing syndrome [RCV001187410] |
Chr16:23636043 [GRCh38]
Chr16:23647364 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2586+4A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001191608] |
Chr16:23629200 [GRCh38]
Chr16:23640521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.465T>C (p.Phe155=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001191686] |
Chr16:23636081 [GRCh38]
Chr16:23647402 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.863G>A (p.Ser288Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002560125]|Hereditary cancer-predisposing syndrome [RCV001191706]|not provided [RCV004773311] |
Chr16:23635683 [GRCh38]
Chr16:23647004 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.148A>G (p.Lys50Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001859154]|Hereditary cancer-predisposing syndrome [RCV001191748] |
Chr16:23637913 [GRCh38]
Chr16:23649234 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2625G>A (p.Met875Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001068007]|Hereditary cancer-predisposing syndrome [RCV003584816] |
Chr16:23626359 [GRCh38]
Chr16:23637680 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2662A>C (p.Ile888Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001181878] |
Chr16:23626322 [GRCh38]
Chr16:23637643 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.46A>G (p.Lys16Glu) |
single nucleotide variant |
not specified [RCV001171433] |
Chr16:23641112 [GRCh38]
Chr16:23652433 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1404A>G (p.Thr468=) |
single nucleotide variant |
Familial cancer of breast [RCV001460299]|Hereditary cancer-predisposing syndrome [RCV001011349] |
Chr16:23635142 [GRCh38]
Chr16:23646463 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1400G>C (p.Gly467Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001350717]|Hereditary cancer-predisposing syndrome [RCV001011381] |
Chr16:23635146 [GRCh38]
Chr16:23646467 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1430C>T (p.Thr477Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011545] |
Chr16:23635116 [GRCh38]
Chr16:23646437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1449A>T (p.Ser483=) |
single nucleotide variant |
Familial cancer of breast [RCV003500619]|Hereditary cancer-predisposing syndrome [RCV001011637] |
Chr16:23635097 [GRCh38]
Chr16:23646418 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1073C>T (p.Pro358Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017214] |
Chr16:23635473 [GRCh38]
Chr16:23646794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017254] |
Chr16:23637954 [GRCh38]
Chr16:23649275 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1103dup (p.Asn368fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001017320] |
Chr16:23635442..23635443 [GRCh38]
Chr16:23646763..23646764 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1108C>A (p.Gln370Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001220955]|Hereditary cancer-predisposing syndrome [RCV001017341] |
Chr16:23635438 [GRCh38]
Chr16:23646759 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001383301]|Hereditary cancer-predisposing syndrome [RCV001017382] |
Chr16:23635429 [GRCh38]
Chr16:23646750 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2732C>G (p.Thr911Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001179673] |
Chr16:23626252 [GRCh38]
Chr16:23637573 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.317C>T (p.Ser106Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182838] |
Chr16:23636229 [GRCh38]
Chr16:23647550 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2507T>C (p.Val836Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001192215] |
Chr16:23629647 [GRCh38]
Chr16:23640968 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3407C>T (p.Thr1136Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001192273] |
Chr16:23603613 [GRCh38]
Chr16:23614934 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.416A>C (p.Gln139Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001313968]|Hereditary cancer-predisposing syndrome [RCV001184117]|not provided [RCV004697052] |
Chr16:23636130 [GRCh38]
Chr16:23647451 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603313)_(23641157_?)del |
deletion |
Familial cancer of breast [RCV001032154] |
Chr16:23614634..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1757A>G (p.Asp586Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182260] |
Chr16:23630397 [GRCh38]
Chr16:23641718 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030651]|Hereditary cancer-predisposing syndrome [RCV001011656] |
Chr16:23635095 [GRCh38]
Chr16:23646416 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1459G>A (p.Val487Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011683] |
Chr16:23635087 [GRCh38]
Chr16:23646408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1640C>A (p.Thr547Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003607405]|Hereditary cancer-predisposing syndrome [RCV001179756] |
Chr16:23634906 [GRCh38]
Chr16:23646227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001386173]|Hereditary cancer-predisposing syndrome [RCV001179792] |
Chr16:23623093 [GRCh38]
Chr16:23634414 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.342A>T (p.Gly114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001179863] |
Chr16:23636204 [GRCh38]
Chr16:23647525 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.721A>T (p.Asn241Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001183383] |
Chr16:23635825 [GRCh38]
Chr16:23647146 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.823A>G (p.Thr275Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176156] |
Chr16:23635723 [GRCh38]
Chr16:23647044 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1000_1013del (p.Tyr334fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001184698] |
Chr16:23635533..23635546 [GRCh38]
Chr16:23646854..23646867 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1579T>C (p.Cys527Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001860699]|Hereditary cancer-predisposing syndrome [RCV001012276] |
Chr16:23634967 [GRCh38]
Chr16:23646288 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.671C>G (p.Pro224Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025572] |
Chr16:23635875 [GRCh38]
Chr16:23647196 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.866T>C (p.Leu289Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003607380]|Hereditary cancer-predisposing syndrome [RCV001018150] |
Chr16:23635680 [GRCh38]
Chr16:23647001 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3029A>C (p.Glu1010Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001048450]|Hereditary cancer-predisposing syndrome [RCV001018164] |
Chr16:23621446 [GRCh38]
Chr16:23632767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3032A>G (p.Glu1011Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018191] |
Chr16:23621443 [GRCh38]
Chr16:23632764 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3049G>C (p.Ala1017Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003769506]|Hereditary cancer-predisposing syndrome [RCV001018294] |
Chr16:23621426 [GRCh38]
Chr16:23632747 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.877G>A (p.Gly293Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018314] |
Chr16:23635669 [GRCh38]
Chr16:23646990 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001054225]|Hereditary cancer-predisposing syndrome [RCV001018399]|not provided [RCV001030374] |
Chr16:23621413 [GRCh38]
Chr16:23632734 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3075T>C (p.Ala1025=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018492] |
Chr16:23621400 [GRCh38]
Chr16:23632721 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1072_1073delinsTT (p.Pro358Phe) |
indel |
Hereditary cancer-predisposing syndrome [RCV001179930] |
Chr16:23635473..23635474 [GRCh38]
Chr16:23646794..23646795 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.*10A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180161] |
Chr16:23603449 [GRCh38]
Chr16:23614770 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+13C>G |
single nucleotide variant |
Familial cancer of breast [RCV002068466]|Familial cancer of breast [RCV002497653]|Hereditary cancer-predisposing syndrome [RCV001187467] |
Chr16:23623996 [GRCh38]
Chr16:23635317 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3079C>T (p.Leu1027Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001229133] |
Chr16:23621396 [GRCh38]
Chr16:23632717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23637840)_(23638139_?)del |
deletion |
Familial cancer of breast [RCV001033896] |
Chr16:23649161..23649460 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1635A>C (p.Glu545Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012388] |
Chr16:23634911 [GRCh38]
Chr16:23646232 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.692A>T (p.Lys231Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025813] |
Chr16:23635854 [GRCh38]
Chr16:23647175 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001860714]|Hereditary cancer-predisposing syndrome [RCV001012602]|not provided [RCV001284026] |
Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.894C>T (p.Val298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018524] |
Chr16:23635652 [GRCh38]
Chr16:23646973 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.30C>T (p.Ser10=) |
single nucleotide variant |
Familial cancer of breast [RCV001396953]|Hereditary cancer-predisposing syndrome [RCV001018643] |
Chr16:23641128 [GRCh38]
Chr16:23652449 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3102C>T (p.Asn1034=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018651] |
Chr16:23621373 [GRCh38]
Chr16:23632694 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.907C>T (p.Leu303Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001242477]|Hereditary cancer-predisposing syndrome [RCV001018800] |
Chr16:23635639 [GRCh38]
Chr16:23646960 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3514C>G (p.Leu1172Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607404]|Hereditary cancer-predisposing syndrome [RCV001176666] |
Chr16:23603506 [GRCh38]
Chr16:23614827 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2443T>G (p.Ser815Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002558947]|Hereditary cancer-predisposing syndrome [RCV001180222] |
Chr16:23629711 [GRCh38]
Chr16:23641032 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001218280]|Hereditary cancer-predisposing syndrome [RCV001180223] |
Chr16:23629794 [GRCh38]
Chr16:23641115 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001244487]|Hereditary cancer-predisposing syndrome [RCV001180225] |
Chr16:23629876 [GRCh38]
Chr16:23641197 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3021G>T (p.Met1007Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001875980]|Hereditary cancer-predisposing syndrome [RCV001180251] |
Chr16:23621454 [GRCh38]
Chr16:23632775 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3276C>G (p.Leu1092=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180252] |
Chr16:23607938 [GRCh38]
Chr16:23619259 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001875981]|Hereditary cancer-predisposing syndrome [RCV001180262] |
Chr16:23636335 [GRCh38]
Chr16:23647656 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2835-71del |
deletion |
not provided [RCV001666805] |
Chr16:23623201 [GRCh38]
Chr16:23634522 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1570_1571delinsAG (p.Ser524Arg) |
indel |
Familial cancer of breast [RCV001046783]|Hereditary cancer-predisposing syndrome [RCV001185287] |
Chr16:23634975..23634976 [GRCh38]
Chr16:23646296..23646297 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3126del (p.Gly1043fs) |
deletion |
Familial cancer of breast [RCV001070945] |
Chr16:23614079 [GRCh38]
Chr16:23625400 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001181255] |
Chr16:23637885 [GRCh38]
Chr16:23649206 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3089C>A (p.Thr1030Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001071249]|Hereditary cancer-predisposing syndrome [RCV002320355] |
Chr16:23621386 [GRCh38]
Chr16:23632707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.836A>C (p.Lys279Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001876036]|Hereditary cancer-predisposing syndrome [RCV001181734] |
Chr16:23635710 [GRCh38]
Chr16:23647031 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-299G>T |
single nucleotide variant |
not provided [RCV001693373] |
Chr16:23623429 [GRCh38]
Chr16:23634750 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3113+325A>G |
single nucleotide variant |
not provided [RCV001713971] |
Chr16:23621037 [GRCh38]
Chr16:23632358 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.546C>G (p.Ile182Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182418] |
Chr16:23636000 [GRCh38]
Chr16:23647321 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001232223]|Hereditary cancer-predisposing syndrome [RCV001010064] |
Chr16:23635383 [GRCh38]
Chr16:23646704 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23626226)_(23636344_?)del |
deletion |
Familial cancer of breast [RCV001033198] |
Chr16:23637547..23647665 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.380A>T (p.His127Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001035601] |
Chr16:23636166 [GRCh38]
Chr16:23647487 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.827A>C (p.His276Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182164] |
Chr16:23635719 [GRCh38]
Chr16:23647040 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.519G>A (p.Gly173=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023703] |
Chr16:23636027 [GRCh38]
Chr16:23647348 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-72A>C |
single nucleotide variant |
not provided [RCV001694191] |
Chr16:23624166 [GRCh38]
Chr16:23635487 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter) |
indel |
Familial cancer of breast [RCV001238972]|Hereditary cancer-predisposing syndrome [RCV001024007] |
Chr16:23636007..23636008 [GRCh38]
Chr16:23647328..23647329 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1265A>C (p.Lys422Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010628] |
Chr16:23635281 [GRCh38]
Chr16:23646602 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1349del (p.Asn450fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001011002] |
Chr16:23635197 [GRCh38]
Chr16:23646518 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23629630)_(23630479_?)del |
deletion |
Familial cancer of breast [RCV001033895] |
Chr16:23640951..23641800 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.689A>C (p.Glu230Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001070131] |
Chr16:23635857 [GRCh38]
Chr16:23647178 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23613994)_(23624104_?)dup |
duplication |
Familial cancer of breast [RCV001031129] |
Chr16:23625315..23635425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3383C>G (p.Ala1128Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001048484] |
Chr16:23603637 [GRCh38]
Chr16:23614958 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3483del (p.Phe1161fs) |
deletion |
Breast and/or ovarian cancer [RCV001799113]|Familial cancer of breast [RCV003451836]|Hereditary cancer-predisposing syndrome [RCV002458557]|Ovarian carcinoma [RCV001644558] |
Chr16:23603537 [GRCh38]
Chr16:23614858 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.570A>G (p.Ser190=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001180947] |
Chr16:23635976 [GRCh38]
Chr16:23647297 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1880_1881del (p.Val627fs) |
deletion |
Familial cancer of breast [RCV001212735]|Hereditary cancer-predisposing syndrome [RCV001013484] |
Chr16:23630273..23630274 [GRCh38]
Chr16:23641594..23641595 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.779A>G (p.Gln260Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001873420]|Familial cancer of breast [RCV002489528]|Hereditary cancer-predisposing syndrome [RCV001026817] |
Chr16:23635767 [GRCh38]
Chr16:23647088 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1911C>G (p.Pro637=) |
single nucleotide variant |
Familial cancer of breast [RCV001429393]|Hereditary cancer-predisposing syndrome [RCV001013664]|not specified [RCV001800921] |
Chr16:23630243 [GRCh38]
Chr16:23641564 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.804A>G (p.Lys268=) |
single nucleotide variant |
Familial cancer of breast [RCV001231960] |
Chr16:23635742 [GRCh38]
Chr16:23647063 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NC_000016.10:g.(?_23621352)_(23621488_?)del |
deletion |
Familial cancer of breast [RCV001032413] |
Chr16:23632673..23632809 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455079]|Hereditary cancer-predisposing syndrome [RCV001013686] |
Chr16:23630239 [GRCh38]
Chr16:23641560 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1956C>T (p.Ser652=) |
single nucleotide variant |
Familial cancer of breast [RCV002068878]|Hereditary cancer-predisposing syndrome [RCV001013835] |
Chr16:23630198 [GRCh38]
Chr16:23641519 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1959T>C (p.Cys653=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013845] |
Chr16:23630195 [GRCh38]
Chr16:23641516 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.809G>A (p.Ser270Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001045831]|Hereditary cancer-predisposing syndrome [RCV001027172] |
Chr16:23635737 [GRCh38]
Chr16:23647058 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.408T>G (p.Ser136Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001217537] |
Chr16:23636138 [GRCh38]
Chr16:23647459 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2566C>A (p.Gln856Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001217590] |
Chr16:23629224 [GRCh38]
Chr16:23640545 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.188T>C (p.Leu63Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001217591] |
Chr16:23637873 [GRCh38]
Chr16:23649194 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.77G>T (p.Arg26Met) |
single nucleotide variant |
Familial cancer of breast [RCV001212414] |
Chr16:23638101 [GRCh38]
Chr16:23649422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3043A>C (p.Thr1015Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001218738] |
Chr16:23621432 [GRCh38]
Chr16:23632753 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.599T>C (p.Leu200Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001217299] |
Chr16:23635947 [GRCh38]
Chr16:23647268 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.389A>C (p.His130Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001049533] |
Chr16:23636157 [GRCh38]
Chr16:23647478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1867A>G (p.Lys623Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001041796] |
Chr16:23630287 [GRCh38]
Chr16:23641608 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603313)_(23626407_?)del |
deletion |
Familial cancer of breast [RCV001032598] |
Chr16:23614634..23637728 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1937G>A (p.Arg646Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001217443]|Hereditary cancer-predisposing syndrome [RCV002411806] |
Chr16:23630217 [GRCh38]
Chr16:23641538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1769C>T (p.Ala590Val) |
single nucleotide variant |
Familial cancer of breast [RCV001234776]|Hereditary cancer-predisposing syndrome [RCV004659430] |
Chr16:23630385 [GRCh38]
Chr16:23641706 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1745C>G (p.Ser582Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001220190] |
Chr16:23630409 [GRCh38]
Chr16:23641730 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1385A>G (p.Glu462Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001035579]|Hereditary cancer-predisposing syndrome [RCV002391094] |
Chr16:23635161 [GRCh38]
Chr16:23646482 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.816A>G (p.Glu272=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027239] |
Chr16:23635730 [GRCh38]
Chr16:23647051 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2077C>A (p.His693Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014343] |
Chr16:23630077 [GRCh38]
Chr16:23641398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2078A>T (p.His693Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001047310]|Hereditary cancer-predisposing syndrome [RCV001014348]|not provided [RCV003478620] |
Chr16:23630076 [GRCh38]
Chr16:23641397 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2086A>G (p.Thr696Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003473573]|Hereditary cancer-predisposing syndrome [RCV001014380] |
Chr16:23630068 [GRCh38]
Chr16:23641389 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2097T>C (p.Ser699=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014422] |
Chr16:23630057 [GRCh38]
Chr16:23641378 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2099C>G (p.Ser700Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014427] |
Chr16:23630055 [GRCh38]
Chr16:23641376 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2161del (p.Thr721fs) |
deletion |
Familial cancer of breast [RCV001069080]|Hereditary cancer-predisposing syndrome [RCV001014493] |
Chr16:23629993 [GRCh38]
Chr16:23641314 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455085]|Hereditary cancer-predisposing syndrome [RCV001014530] |
Chr16:23630031 [GRCh38]
Chr16:23641352 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.212-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014540] |
Chr16:23636339 [GRCh38]
Chr16:23647660 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1342A>G (p.Ser448Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001212799] |
Chr16:23635204 [GRCh38]
Chr16:23646525 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2203C>A (p.Pro735Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001204958]|Hereditary cancer-predisposing syndrome [RCV001014757] |
Chr16:23629951 [GRCh38]
Chr16:23641272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2220del (p.Gly741fs) |
deletion |
Familial cancer of breast [RCV001214907]|Hereditary cancer-predisposing syndrome [RCV001014841] |
Chr16:23629934 [GRCh38]
Chr16:23641255 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3263C>G (p.Pro1088Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001201512] |
Chr16:23607951 [GRCh38]
Chr16:23619272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.865T>A (p.Leu289Met) |
single nucleotide variant |
Familial cancer of breast [RCV001042767]|Hereditary cancer-predisposing syndrome [RCV001186580] |
Chr16:23635681 [GRCh38]
Chr16:23647002 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001057203] |
Chr16:23635231 [GRCh38]
Chr16:23646552 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.122C>T (p.Ala41Val) |
single nucleotide variant |
Familial cancer of breast [RCV001238387]|Hereditary cancer-predisposing syndrome [RCV001010448] |
Chr16:23637939 [GRCh38]
Chr16:23649260 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3418T>A (p.Trp1140Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001053524]|Hereditary cancer-predisposing syndrome [RCV002451222] |
Chr16:23603602 [GRCh38]
Chr16:23614923 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1697G>T (p.Arg566Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001053539] |
Chr16:23630457 [GRCh38]
Chr16:23641778 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.546C>T (p.Ile182=) |
single nucleotide variant |
Familial cancer of breast [RCV002552381]|Hereditary cancer-predisposing syndrome [RCV001024152] |
Chr16:23636000 [GRCh38]
Chr16:23647321 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.549T>A (p.Ser183Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024179] |
Chr16:23635997 [GRCh38]
Chr16:23647318 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2716T>G (p.Trp906Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001205459] |
Chr16:23626268 [GRCh38]
Chr16:23637589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+1G>T |
single nucleotide variant |
Familial cancer of breast [RCV001377904]|not provided [RCV001091643] |
Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.168T>G (p.Asp56Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001248703] |
Chr16:23637893 [GRCh38]
Chr16:23649214 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1872_1891del (p.Glu625fs) |
deletion |
Familial cancer of breast [RCV001051067] |
Chr16:23630263..23630282 [GRCh38]
Chr16:23641584..23641603 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2413G>A (p.Val805Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001051071] |
Chr16:23629741 [GRCh38]
Chr16:23641062 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-1del |
deletion |
Gastric cancer [RCV003160188]|not provided [RCV001030110] |
Chr16:23638130 [GRCh38]
Chr16:23649451 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.62T>C (p.Leu21Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002298850]|not provided [RCV001030112] |
Chr16:23638116 [GRCh38]
Chr16:23649437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.65C>T (p.Ala22Val) |
single nucleotide variant |
Familial cancer of breast [RCV001316104]|Hereditary cancer-predisposing syndrome [RCV002363542]|not provided [RCV001030113] |
Chr16:23638113 [GRCh38]
Chr16:23649434 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.73A>C (p.Lys25Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160189]|not provided [RCV001030116] |
Chr16:23638105 [GRCh38]
Chr16:23649426 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.86G>C (p.Ser29Thr) |
single nucleotide variant |
not provided [RCV001030117] |
Chr16:23638092 [GRCh38]
Chr16:23649413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.119G>C (p.Arg40Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346232]|not provided [RCV001030122] |
Chr16:23637942 [GRCh38]
Chr16:23649263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.132T>A (p.Ile44=) |
single nucleotide variant |
not provided [RCV001030124] |
Chr16:23637929 [GRCh38]
Chr16:23649250 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.207C>T (p.His69=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004030908]|not provided [RCV001030126] |
Chr16:23637854 [GRCh38]
Chr16:23649175 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.560del (p.Pro187fs) |
deletion |
not provided [RCV001030157] |
Chr16:23635986 [GRCh38]
Chr16:23647307 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.756dup (p.Leu253fs) |
duplication |
Familial cancer of breast [RCV003455143]|not provided [RCV001030172] |
Chr16:23635789..23635790 [GRCh38]
Chr16:23647110..23647111 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.792C>A (p.His264Gln) |
single nucleotide variant |
not provided [RCV001030175] |
Chr16:23635754 [GRCh38]
Chr16:23647075 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1396_1399dup (p.Gly467fs) |
duplication |
not provided [RCV001030222] |
Chr16:23635146..23635147 [GRCh38]
Chr16:23646467..23646468 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2629T>C (p.Trp877Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607398]|not provided [RCV001030333] |
Chr16:23626355 [GRCh38]
Chr16:23637676 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2640C>G (p.Ala880=) |
single nucleotide variant |
Familial cancer of breast [RCV001492469]|not provided [RCV001030335] |
Chr16:23626344 [GRCh38]
Chr16:23637665 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2652G>C (p.Glu884Asp) |
single nucleotide variant |
not provided [RCV001030337] |
Chr16:23626332 [GRCh38]
Chr16:23637653 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2794G>C (p.Val932Leu) |
single nucleotide variant |
not provided [RCV001030344] |
Chr16:23624049 [GRCh38]
Chr16:23635370 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2941A>G (p.Ser981Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002552039]|not provided [RCV001030357] |
Chr16:23623024 [GRCh38]
Chr16:23634345 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2955T>C (p.Ser985=) |
single nucleotide variant |
Familial cancer of breast [RCV001476693]|Hereditary cancer-predisposing syndrome [RCV001189109]|not provided [RCV001030358] |
Chr16:23623010 [GRCh38]
Chr16:23634331 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2997A>T (p.Gly999=) |
single nucleotide variant |
not provided [RCV001030365] |
Chr16:23621478 [GRCh38]
Chr16:23632799 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3063G>T (p.Gly1021=) |
single nucleotide variant |
not provided [RCV001030375] |
Chr16:23621412 [GRCh38]
Chr16:23632733 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3064A>T (p.Met1022Leu) |
single nucleotide variant |
not provided [RCV001030376] |
Chr16:23621411 [GRCh38]
Chr16:23632732 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001306754]|Hereditary cancer-predisposing syndrome [RCV001182909]|not provided [RCV001030377] |
Chr16:23621387 [GRCh38]
Chr16:23632708 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3313G>T (p.Val1105Leu) |
single nucleotide variant |
not provided [RCV001030408] |
Chr16:23607901 [GRCh38]
Chr16:23619222 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3424T>A (p.Leu1142Ile) |
single nucleotide variant |
not provided [RCV001030416] |
Chr16:23603596 [GRCh38]
Chr16:23614917 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1038del (p.Glu347fs) |
deletion |
Familial cancer of breast [RCV001057876] |
Chr16:23635508 [GRCh38]
Chr16:23646829 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2996G>A (p.Gly999Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001057938] |
Chr16:23622969 [GRCh38]
Chr16:23634290 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3471A>G (p.Gln1157=) |
single nucleotide variant |
Familial cancer of breast [RCV001058034] |
Chr16:23603549 [GRCh38]
Chr16:23614870 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.252C>G (p.Ile84Met) |
single nucleotide variant |
Familial cancer of breast [RCV001058046] |
Chr16:23636294 [GRCh38]
Chr16:23647615 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.550A>G (p.Ser184Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002298843]|Hereditary cancer-predisposing syndrome [RCV001024204] |
Chr16:23635996 [GRCh38]
Chr16:23647317 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2535T>C (p.Pro845=) |
single nucleotide variant |
Familial cancer of breast [RCV002559781]|Hereditary cancer-predisposing syndrome [RCV001181274]|not provided [RCV003478712]|not specified [RCV004596416] |
Chr16:23629255 [GRCh38]
Chr16:23640576 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.318del (p.Phe107fs) |
deletion |
Familial cancer of breast [RCV001220506] |
Chr16:23636228 [GRCh38]
Chr16:23647549 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.483C>G (p.Asp161Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001054073]|Hereditary cancer-predisposing syndrome [RCV002339272]|not provided [RCV002479328] |
Chr16:23636063 [GRCh38]
Chr16:23647384 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1282G>T (p.Val428Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001058117] |
Chr16:23635264 [GRCh38]
Chr16:23646585 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2950del (p.Leu984fs) |
deletion |
Familial cancer of breast [RCV001204156]|Hereditary cancer-predisposing syndrome [RCV001180733]|not provided [RCV001593311] |
Chr16:23623015 [GRCh38]
Chr16:23634336 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1126A>T (p.Ser376Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001204655] |
Chr16:23635420 [GRCh38]
Chr16:23646741 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1309A>C (p.Lys437Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010884] |
Chr16:23635237 [GRCh38]
Chr16:23646558 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1349A>C (p.Asn450Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011000] |
Chr16:23635197 [GRCh38]
Chr16:23646518 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1248del (p.Met416fs) |
deletion |
Familial cancer of breast [RCV001231818]|Hereditary cancer-predisposing syndrome [RCV002393575] |
Chr16:23635298 [GRCh38]
Chr16:23646619 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1493A>T (p.Asp498Val) |
single nucleotide variant |
Familial cancer of breast [RCV001231919] |
Chr16:23635053 [GRCh38]
Chr16:23646374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA (p.Thr243delinsLeuGlyLeuTer) |
insertion |
Familial cancer of breast [RCV001058355] |
Chr16:23635819..23635820 [GRCh38]
Chr16:23647140..23647141 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) |
single nucleotide variant |
Gastric cancer [RCV003160174]|Hereditary breast ovarian cancer syndrome [RCV001030652]|Hereditary cancer-predisposing syndrome [RCV001011273]|not provided [RCV001030221] |
Chr16:23635162 [GRCh38]
Chr16:23646483 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.60A>G (p.Lys20=) |
single nucleotide variant |
Familial cancer of breast [RCV001439705]|Hereditary cancer-predisposing syndrome [RCV001024896] |
Chr16:23638118 [GRCh38]
Chr16:23649439 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1466C>T (p.Ser489Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011532]|not specified [RCV004596386] |
Chr16:23635080 [GRCh38]
Chr16:23646401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2320A>C (p.Lys774Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001217230]|Hereditary cancer-predisposing syndrome [RCV001526194] |
Chr16:23629834 [GRCh38]
Chr16:23641155 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23629194)_(23641157_?)del |
deletion |
Familial cancer of breast [RCV001033253] |
Chr16:23640515..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1472C>T (p.Ala491Val) |
single nucleotide variant |
Familial cancer of breast [RCV002551750]|Hereditary cancer-predisposing syndrome [RCV001011768] |
Chr16:23635074 [GRCh38]
Chr16:23646395 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.565A>G (p.Arg189Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001235197] |
Chr16:23635981 [GRCh38]
Chr16:23647302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001233619]|Hereditary cancer-predisposing syndrome [RCV002393582] |
Chr16:23635049 [GRCh38]
Chr16:23646370 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1168dup (p.Ser390fs) |
duplication |
Familial cancer of breast [RCV001233672]|Hereditary cancer-predisposing syndrome [RCV002327561]|not provided [RCV004697085] |
Chr16:23635377..23635378 [GRCh38]
Chr16:23646698..23646699 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001216415]|Hereditary cancer-predisposing syndrome [RCV003294041] |
Chr16:23635966 [GRCh38]
Chr16:23647287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3402T>A (p.Ser1134=) |
single nucleotide variant |
Familial cancer of breast [RCV001201577]|Fanconi anemia complementation group N [RCV001121622]|Hereditary cancer-predisposing syndrome [RCV001526131] |
Chr16:23603618 [GRCh38]
Chr16:23614939 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.646del (p.Ile216fs) |
deletion |
Familial cancer of breast [RCV003455131]|Hereditary cancer-predisposing syndrome [RCV001025300] |
Chr16:23635900 [GRCh38]
Chr16:23647221 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1551del (p.Lys517fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001012126] |
Chr16:23634995 [GRCh38]
Chr16:23646316 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1569A>T (p.Ala523=) |
single nucleotide variant |
Familial cancer of breast [RCV003500620]|Hereditary cancer-predisposing syndrome [RCV001012178] |
Chr16:23634977 [GRCh38]
Chr16:23646298 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.804A>C (p.Lys268Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001228370] |
Chr16:23635742 [GRCh38]
Chr16:23647063 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2941A>C (p.Ser981Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001204225]|Hereditary cancer-predisposing syndrome [RCV002436784] |
Chr16:23623024 [GRCh38]
Chr16:23634345 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001055176]|Hereditary cancer-predisposing syndrome [RCV003283917] |
Chr16:23635544 [GRCh38]
Chr16:23646865 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.15C>G (p.Pro5=) |
single nucleotide variant |
Familial cancer of breast [RCV002549367]|Hereditary cancer-predisposing syndrome [RCV001012307] |
Chr16:23641143 [GRCh38]
Chr16:23652464 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1635del (p.Val546fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001012389] |
Chr16:23634911 [GRCh38]
Chr16:23646232 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001358872]|Hereditary cancer-predisposing syndrome [RCV001012445] |
Chr16:23634924 [GRCh38]
Chr16:23646245 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.1644A>G (p.Ser548=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012512] |
Chr16:23634902 [GRCh38]
Chr16:23646223 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.689A>T (p.Glu230Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025770] |
Chr16:23635857 [GRCh38]
Chr16:23647178 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1640C>T (p.Thr547Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012532] |
Chr16:23634906 [GRCh38]
Chr16:23646227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001047370]|Hereditary cancer-predisposing syndrome [RCV001012547] |
Chr16:23634903 [GRCh38]
Chr16:23646224 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.695G>T (p.Gly232Val) |
single nucleotide variant |
Familial cancer of breast [RCV001873401]|Hereditary cancer-predisposing syndrome [RCV001025844] |
Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001215359]|Hereditary cancer-predisposing syndrome [RCV002451471] |
Chr16:23603595 [GRCh38]
Chr16:23614916 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2187del (p.Ile730fs) |
deletion |
Familial cancer of breast [RCV001216596] |
Chr16:23629967 [GRCh38]
Chr16:23641288 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.290C>T (p.Ser97Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001048724] |
Chr16:23636256 [GRCh38]
Chr16:23647577 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.3469C>G (p.Gln1157Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001041109] |
Chr16:23603551 [GRCh38]
Chr16:23614872 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1694GTC[1] (p.Arg566del) |
microsatellite |
Familial cancer of breast [RCV001225385]|Hereditary cancer-predisposing syndrome [RCV001012680]|not provided [RCV001030255] |
Chr16:23630455..23630457 [GRCh38]
Chr16:23641776..23641778 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1681A>G (p.Lys561Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012698] |
Chr16:23634865 [GRCh38]
Chr16:23646186 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1688A>C (p.Lys563Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001038063]|Hereditary cancer-predisposing syndrome [RCV001012712] |
Chr16:23630466 [GRCh38]
Chr16:23641787 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.706T>G (p.Phe236Val) |
single nucleotide variant |
Familial cancer of breast [RCV001071969]|Hereditary cancer-predisposing syndrome [RCV001026002] |
Chr16:23635840 [GRCh38]
Chr16:23647161 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1712A>T (p.Asp571Val) |
single nucleotide variant |
Familial cancer of breast [RCV003473569]|Hereditary cancer-predisposing syndrome [RCV001012809] |
Chr16:23630442 [GRCh38]
Chr16:23641763 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1721C>T (p.Ser574Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012849] |
Chr16:23630433 [GRCh38]
Chr16:23641754 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2101T>C (p.Ser701Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001230693] |
Chr16:23630053 [GRCh38]
Chr16:23641374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.452A>T (p.Gln151Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001204558] |
Chr16:23636094 [GRCh38]
Chr16:23647415 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.638T>A (p.Val213Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001218371]|Hereditary cancer-predisposing syndrome [RCV004649505] |
Chr16:23635908 [GRCh38]
Chr16:23647229 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2503T>G (p.Ser835Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001216790] |
Chr16:23629651 [GRCh38]
Chr16:23640972 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001214459]|Hereditary cancer-predisposing syndrome [RCV004659398] |
Chr16:23635740 [GRCh38]
Chr16:23647061 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1754A>G (p.Asp585Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003500621]|Hereditary cancer-predisposing syndrome [RCV001013020] |
Chr16:23630400 [GRCh38]
Chr16:23641721 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.737C>T (p.Thr246Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001212873]|Hereditary cancer-predisposing syndrome [RCV001026347]|not specified [RCV002268411] |
Chr16:23635809 [GRCh38]
Chr16:23647130 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.748T>C (p.Leu250=) |
single nucleotide variant |
Familial cancer of breast [RCV001433467]|Hereditary cancer-predisposing syndrome [RCV001026494] |
Chr16:23635798 [GRCh38]
Chr16:23647119 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1814C>G (p.Ser605Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003500622]|Hereditary cancer-predisposing syndrome [RCV001013285] |
Chr16:23630340 [GRCh38]
Chr16:23641661 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.147_149del (p.Lys50del) |
deletion |
Familial cancer of breast [RCV001210795]|Hereditary cancer-predisposing syndrome [RCV002393479] |
Chr16:23637912..23637914 [GRCh38]
Chr16:23649233..23649235 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.749T>C (p.Leu250Ser) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001799025]|Familial cancer of breast [RCV001206182]|Hereditary cancer-predisposing syndrome [RCV001026503]|not provided [RCV003883530] |
Chr16:23635797 [GRCh38]
Chr16:23647118 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.754A>T (p.Thr252Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026549] |
Chr16:23635792 [GRCh38]
Chr16:23647113 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1402A>G (p.Thr468Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001211631]|Hereditary cancer-predisposing syndrome [RCV001806048] |
Chr16:23635144 [GRCh38]
Chr16:23646465 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1822A>G (p.Ser608Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001063975] |
Chr16:23630332 [GRCh38]
Chr16:23641653 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.701A>T (p.Asp234Val) |
single nucleotide variant |
Familial cancer of breast [RCV001064100]|Hereditary cancer-predisposing syndrome [RCV004649445] |
Chr16:23635845 [GRCh38]
Chr16:23647166 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3487A>G (p.Lys1163Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001873333]|Hereditary cancer-predisposing syndrome [RCV001020420] |
Chr16:23603533 [GRCh38]
Chr16:23614854 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.481_482del (p.Asp161fs) |
microsatellite |
Familial cancer of breast [RCV001203881]|Hereditary cancer-predisposing syndrome [RCV001023095] |
Chr16:23636064..23636065 [GRCh38]
Chr16:23647385..23647386 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1859G>A (p.Gly620Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013424] |
Chr16:23630295 [GRCh38]
Chr16:23641616 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1880T>G (p.Val627Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013485] |
Chr16:23630274 [GRCh38]
Chr16:23641595 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1889G>C (p.Cys630Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001873245]|Hereditary cancer-predisposing syndrome [RCV001013568] |
Chr16:23630265 [GRCh38]
Chr16:23641586 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2686T>C (p.Ser896Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001324297]|Hereditary cancer-predisposing syndrome [RCV001181883] |
Chr16:23626298 [GRCh38]
Chr16:23637619 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1551A>G (p.Lys517=) |
single nucleotide variant |
Familial cancer of breast [RCV001407551]|Hereditary cancer-predisposing syndrome [RCV002402494]|not specified [RCV001171428] |
Chr16:23634995 [GRCh38]
Chr16:23646316 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2587-703G>A |
single nucleotide variant |
not specified [RCV001171431] |
Chr16:23627100 [GRCh38]
Chr16:23638421 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001064157]|Hereditary cancer-predisposing syndrome [RCV002436654] |
Chr16:23621447 [GRCh38]
Chr16:23632768 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3280G>A (p.Val1094Met) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003327479]|Familial cancer of breast [RCV001063180]|Hereditary cancer-predisposing syndrome [RCV001019640] |
Chr16:23607934 [GRCh38]
Chr16:23619255 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.807T>A (p.Gly269=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027148] |
Chr16:23635739 [GRCh38]
Chr16:23647060 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.199C>G (p.Leu67Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014018] |
Chr16:23637862 [GRCh38]
Chr16:23649183 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2028T>C (p.Ile676=) |
single nucleotide variant |
Familial cancer of breast [RCV001465470]|Hereditary cancer-predisposing syndrome [RCV001014130] |
Chr16:23630126 [GRCh38]
Chr16:23641447 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1039G>C (p.Glu347Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001212357]|Hereditary cancer-predisposing syndrome [RCV002393486] |
Chr16:23635507 [GRCh38]
Chr16:23646828 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3083G>A (p.Gly1028Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001229890]|Hereditary cancer-predisposing syndrome [RCV002319680] |
Chr16:23621392 [GRCh38]
Chr16:23632713 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1667T>C (p.Leu556Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001071668] |
Chr16:23634879 [GRCh38]
Chr16:23646200 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.347T>C (p.Leu116Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001040215] |
Chr16:23636199 [GRCh38]
Chr16:23647520 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+2_108+12delinsCGGC |
indel |
Hereditary cancer-predisposing syndrome [RCV001009843] |
Chr16:23638058..23638068 [GRCh38]
Chr16:23649379..23649389 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001221199]|Familial cancer of breast [RCV002505541]|Hereditary cancer-predisposing syndrome [RCV001009902] |
Chr16:23635442 [GRCh38]
Chr16:23646763 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1574A>T (p.Asp525Val) |
single nucleotide variant |
Familial cancer of breast [RCV001054513]|Hereditary cancer-predisposing syndrome [RCV003160431] |
Chr16:23634972 [GRCh38]
Chr16:23646293 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001229056]|Hereditary cancer-predisposing syndrome [RCV001526202] |
Chr16:23635319 [GRCh38]
Chr16:23646640 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3128G>A (p.Gly1043Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001182908] |
Chr16:23614077 [GRCh38]
Chr16:23625398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2767G>T (p.Val923Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001875786]|Hereditary cancer-predisposing syndrome [RCV001175786] |
Chr16:23624076 [GRCh38]
Chr16:23635397 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 |
copy number gain |
not provided [RCV001006786] |
Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.2165A>G (p.Asp722Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001318925]|Hereditary cancer-predisposing syndrome [RCV001014659] |
Chr16:23629989 [GRCh38]
Chr16:23641310 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2187C>T (p.Pro729=) |
single nucleotide variant |
Familial cancer of breast [RCV002549406]|Hereditary cancer-predisposing syndrome [RCV001014700] |
Chr16:23629967 [GRCh38]
Chr16:23641288 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-37C>T |
single nucleotide variant |
Fanconi anemia complementation group N [RCV001121826] |
Chr16:23641194 [GRCh38]
Chr16:23652515 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748+13C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176215] |
Chr16:23626223 [GRCh38]
Chr16:23637544 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001176333] |
Chr16:23641158 [GRCh38]
Chr16:23652479 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2277A>C (p.Gln759His) |
single nucleotide variant |
Familial cancer of breast [RCV001873259]|Hereditary cancer-predisposing syndrome [RCV001015028] |
Chr16:23629877 [GRCh38]
Chr16:23641198 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.230G>A (p.Cys77Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001201639]|Hereditary cancer-predisposing syndrome [RCV001015134] |
Chr16:23636316 [GRCh38]
Chr16:23647637 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2831T>G (p.Ile944Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001250434] |
Chr16:23624012 [GRCh38]
Chr16:23635333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2417C>A (p.Pro806Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001345643]|Hereditary cancer-predisposing syndrome [RCV001015278] |
Chr16:23629737 [GRCh38]
Chr16:23641058 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002549416]|Hereditary cancer-predisposing syndrome [RCV001015370] |
Chr16:23629765 [GRCh38]
Chr16:23641086 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2396C>A (p.Thr799Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001299406]|Hereditary cancer-predisposing syndrome [RCV001015396] |
Chr16:23629758 [GRCh38]
Chr16:23641079 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2479del (p.Thr827fs) |
deletion |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315444]|Familial cancer of breast [RCV002551781]|Hereditary breast ovarian cancer syndrome [RCV004017773]|Hereditary cancer-predisposing syndrome [RCV001015636]|not provided [RCV002466601] |
Chr16:23629675 [GRCh38]
Chr16:23640996 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2471G>A (p.Cys824Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001054851]|Hereditary cancer-predisposing syndrome [RCV001015667]|not provided [RCV003227889] |
Chr16:23629683 [GRCh38]
Chr16:23641004 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-3C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015745] |
Chr16:23629278 [GRCh38]
Chr16:23640599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.780G>A (p.Gln260=) |
single nucleotide variant |
not provided [RCV001030174] |
Chr16:23635766 [GRCh38]
Chr16:23647087 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.796C>T (p.Pro266Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001862433]|not provided [RCV001030176] |
Chr16:23635750 [GRCh38]
Chr16:23647071 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.812G>A (p.Ser271Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003607394]|Hereditary cancer-predisposing syndrome [RCV002416312]|not provided [RCV001030177] |
Chr16:23635734 [GRCh38]
Chr16:23647055 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.815A>G (p.Glu272Gly) |
single nucleotide variant |
not provided [RCV001030178] |
Chr16:23635731 [GRCh38]
Chr16:23647052 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.839_840insT (p.Ile281fs) |
insertion |
Gastric cancer [RCV003160192]|not provided [RCV001030182] |
Chr16:23635706..23635707 [GRCh38]
Chr16:23647027..23647028 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.896C>G (p.Ser299Cys) |
single nucleotide variant |
not provided [RCV001030186] |
Chr16:23635650 [GRCh38]
Chr16:23646971 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.923C>A (p.Ala308Asp) |
single nucleotide variant |
not provided [RCV001030188] |
Chr16:23635623 [GRCh38]
Chr16:23646944 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.963A>T (p.Leu321Phe) |
single nucleotide variant |
not provided [RCV001030191] |
Chr16:23635583 [GRCh38]
Chr16:23646904 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1038_1041del (p.Lys346fs) |
deletion |
not provided [RCV001030196] |
Chr16:23635505..23635508 [GRCh38]
Chr16:23646826..23646829 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1076G>A (p.Ser359Asn) |
single nucleotide variant |
not provided [RCV001030198] |
Chr16:23635470 [GRCh38]
Chr16:23646791 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1234A>G (p.Thr412Ala) |
single nucleotide variant |
not provided [RCV001030208] |
Chr16:23635312 [GRCh38]
Chr16:23646633 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1245C>A (p.Ser415Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607395]|not provided [RCV001030209] |
Chr16:23635301 [GRCh38]
Chr16:23646622 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1246A>G (p.Met416Val) |
single nucleotide variant |
Familial cancer of breast [RCV001206441]|not provided [RCV001030210] |
Chr16:23635300 [GRCh38]
Chr16:23646621 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1265A>G (p.Lys422Arg) |
single nucleotide variant |
not provided [RCV001030211] |
Chr16:23635281 [GRCh38]
Chr16:23646602 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1353A>T (p.Leu451Phe) |
single nucleotide variant |
not provided [RCV001030218] |
Chr16:23635193 [GRCh38]
Chr16:23646514 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607396]|Hereditary cancer-predisposing syndrome [RCV004659289]|not provided [RCV001030224] |
Chr16:23635135 [GRCh38]
Chr16:23646456 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1436A>C (p.Gln479Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584800]|not provided [RCV001030226] |
Chr16:23635110 [GRCh38]
Chr16:23646431 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) |
deletion |
Gastric cancer [RCV003160193]|Malignant tumor of breast [RCV001779104]|not provided [RCV001030227] |
Chr16:23635095 [GRCh38]
Chr16:23646416 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1465_1470del (p.Ser489_Pro490del) |
deletion |
not provided [RCV001030231] |
Chr16:23635076..23635081 [GRCh38]
Chr16:23646397..23646402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1642_1643del (p.Ser548fs) |
deletion |
not provided [RCV001030241] |
Chr16:23634903..23634904 [GRCh38]
Chr16:23646224..23646225 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1647C>T (p.His549=) |
single nucleotide variant |
not provided [RCV001030242] |
Chr16:23634899 [GRCh38]
Chr16:23646220 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1783G>C (p.Asp595His) |
single nucleotide variant |
not provided [RCV001030259] |
Chr16:23630371 [GRCh38]
Chr16:23641692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1833C>T (p.Asp611=) |
single nucleotide variant |
Familial cancer of breast [RCV001403864]|not provided [RCV001030262] |
Chr16:23630321 [GRCh38]
Chr16:23641642 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004577541]|Familial cancer of breast [RCV003455144]|Hereditary cancer-predisposing syndrome [RCV003584801]|not provided [RCV001030263] |
Chr16:23630317 [GRCh38]
Chr16:23641638 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1905G>A (p.Val635=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001185895]|not provided [RCV001030266] |
Chr16:23630249 [GRCh38]
Chr16:23641570 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3194C>T (p.Ser1065Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003607400]|not provided [RCV001030392] |
Chr16:23614011 [GRCh38]
Chr16:23625332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.532G>A (p.Glu178Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003500634]|Hereditary cancer-predisposing syndrome [RCV001023938] |
Chr16:23636014 [GRCh38]
Chr16:23647335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2517_2518del (p.Glu840fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001015824] |
Chr16:23629272..23629273 [GRCh38]
Chr16:23640593..23640594 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2572G>C (p.Val858Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001048604]|Hereditary cancer-predisposing syndrome [RCV001015988] |
Chr16:23629218 [GRCh38]
Chr16:23640539 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-4T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016023] |
Chr16:23626401 [GRCh38]
Chr16:23637722 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3265G>A (p.Val1089Met) |
single nucleotide variant |
Familial cancer of breast [RCV001875881]|Hereditary cancer-predisposing syndrome [RCV001178204] |
Chr16:23607949 [GRCh38]
Chr16:23619270 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1283T>C (p.Val428Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001185569] |
Chr16:23635263 [GRCh38]
Chr16:23646584 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2734T>C (p.Trp912Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001036348]|Hereditary cancer-predisposing syndrome [RCV001016436] |
Chr16:23626250 [GRCh38]
Chr16:23637571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2766A>T (p.Ile922=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016534] |
Chr16:23624077 [GRCh38]
Chr16:23635398 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.283A>G (p.Lys95Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002551794]|Hereditary cancer-predisposing syndrome [RCV001016578] |
Chr16:23636263 [GRCh38]
Chr16:23647584 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2781T>A (p.Asp927Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001058054]|Hereditary cancer-predisposing syndrome [RCV001016593] |
Chr16:23624062 [GRCh38]
Chr16:23635383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV001860839]|Gastric cancer [RCV003160177]|Hereditary cancer-predisposing syndrome [RCV001016727]|not provided [RCV001030347] |
Chr16:23624007 [GRCh38]
Chr16:23635328 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.568T>A (p.Ser190Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001041617]|Hereditary cancer-predisposing syndrome [RCV002348354] |
Chr16:23635978 [GRCh38]
Chr16:23647299 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3543del (p.Phe1181fs) |
deletion |
Familial cancer of breast [RCV001215283] |
Chr16:23603477 [GRCh38]
Chr16:23614798 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.1034T>C (p.Leu345Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001860851]|Hereditary cancer-predisposing syndrome [RCV001017084] |
Chr16:23635512 [GRCh38]
Chr16:23646833 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1070C>T (p.Ser357Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003769497]|Hereditary cancer-predisposing syndrome [RCV001017197] |
Chr16:23635476 [GRCh38]
Chr16:23646797 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1091G>A (p.Gly364Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002550826]|Hereditary cancer-predisposing syndrome [RCV001017251] |
Chr16:23635455 [GRCh38]
Chr16:23646776 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.604C>G (p.Leu202Val) |
single nucleotide variant |
Familial cancer of breast [RCV001228459]|Hereditary cancer-predisposing syndrome [RCV002356971] |
Chr16:23635942 [GRCh38]
Chr16:23647263 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1161del (p.Pro388fs) |
deletion |
Familial cancer of breast [RCV001051853] |
Chr16:23635385 [GRCh38]
Chr16:23646706 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.253A>G (p.Lys85Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001056196] |
Chr16:23636293 [GRCh38]
Chr16:23647614 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.731G>C (p.Arg244Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001232090]|Hereditary cancer-predisposing syndrome [RCV003294106] |
Chr16:23635815 [GRCh38]
Chr16:23647136 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1360T>C (p.Ser454Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003769440]|Hereditary cancer-predisposing syndrome [RCV001011123] |
Chr16:23635186 [GRCh38]
Chr16:23646507 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002497340]|Hereditary cancer-predisposing syndrome [RCV001017584] |
Chr16:23635713 [GRCh38]
Chr16:23647034 [GRCh37]
Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.834A>T (p.Leu278=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017589]|not provided [RCV003326529] |
Chr16:23635712 [GRCh38]
Chr16:23647033 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2942G>T (p.Ser981Ile) |
single nucleotide variant |
Familial cancer of breast [RCV004569964]|Hereditary cancer-predisposing syndrome [RCV001017617] |
Chr16:23623023 [GRCh38]
Chr16:23634344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2953del (p.Ser985fs) |
deletion |
Familial cancer of breast [RCV001213465]|Hereditary cancer-predisposing syndrome [RCV001017636] |
Chr16:23623012 [GRCh38]
Chr16:23634333 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.839A>T (p.Asn280Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017684] |
Chr16:23635707 [GRCh38]
Chr16:23647028 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.840del (p.Asn280fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001017717] |
Chr16:23635706 [GRCh38]
Chr16:23647027 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.10:g.(?_23621352)_(23641157_?)del |
deletion |
Familial cancer of breast [RCV001033472] |
Chr16:23632673..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.622G>C (p.Asp208His) |
single nucleotide variant |
Familial cancer of breast [RCV001873389]|Hereditary cancer-predisposing syndrome [RCV001025028] |
Chr16:23635924 [GRCh38]
Chr16:23647245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2975T>A (p.Met992Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003500629]|Hereditary cancer-predisposing syndrome [RCV001017736] |
Chr16:23622990 [GRCh38]
Chr16:23634311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV003455099]|Hereditary cancer-predisposing syndrome [RCV001017865] |
Chr16:23621479 [GRCh38]
Chr16:23632800 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp) |
single nucleotide variant |
Carcinoma of colon [RCV001357126]|Familial cancer of breast [RCV002549465]|Hereditary cancer-predisposing syndrome [RCV001017871] |
Chr16:23621476 [GRCh38]
Chr16:23632797 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.29G>C (p.Ser10Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017898] |
Chr16:23641129 [GRCh38]
Chr16:23652450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-3_-2del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001017987] |
Chr16:23641159..23641160 [GRCh38]
Chr16:23652480..23652481 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001297269]|Hereditary cancer-predisposing syndrome [RCV001018035]|not provided [RCV001030185] |
Chr16:23635689 [GRCh38]
Chr16:23647010 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1942C>T (p.Leu648Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001214223] |
Chr16:23630212 [GRCh38]
Chr16:23641533 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.628C>G (p.Pro210Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002551915]|Hereditary cancer-predisposing syndrome [RCV001025086] |
Chr16:23635918 [GRCh38]
Chr16:23647239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1495T>C (p.Leu499=) |
single nucleotide variant |
Familial cancer of breast [RCV001410957]|Hereditary cancer-predisposing syndrome [RCV001011784] |
Chr16:23635051 [GRCh38]
Chr16:23646372 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1524T>C (p.Pro508=) |
single nucleotide variant |
Familial cancer of breast [RCV001483032]|Hereditary cancer-predisposing syndrome [RCV001012011] |
Chr16:23635022 [GRCh38]
Chr16:23646343 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.867G>A (p.Leu289=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018174] |
Chr16:23635679 [GRCh38]
Chr16:23647000 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.885_886insG (p.Met296fs) |
insertion |
Familial cancer of breast [RCV001231405]|Hereditary cancer-predisposing syndrome [RCV001018411] |
Chr16:23635660..23635661 [GRCh38]
Chr16:23646981..23646982 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1678G>A (p.Val560Met) |
single nucleotide variant |
Familial cancer of breast [RCV001056866]|Hereditary cancer-predisposing syndrome [RCV001526122] |
Chr16:23634868 [GRCh38]
Chr16:23646189 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1559G>A (p.Cys520Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001063006]|Hereditary cancer-predisposing syndrome [RCV002402443] |
Chr16:23634987 [GRCh38]
Chr16:23646308 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3092T>C (p.Ile1031Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001063015] |
Chr16:23621383 [GRCh38]
Chr16:23632704 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2755G>C (p.Val919Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001063134] |
Chr16:23624088 [GRCh38]
Chr16:23635409 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1406G>A (p.Cys469Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001204291]|Hereditary cancer-predisposing syndrome [RCV002393458]|not provided [RCV001573436] |
Chr16:23635140 [GRCh38]
Chr16:23646461 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.664_666del (p.Leu222del) |
deletion |
Familial cancer of breast [RCV001862325]|Hereditary cancer-predisposing syndrome [RCV001025487] |
Chr16:23635880..23635882 [GRCh38]
Chr16:23647201..23647203 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001323085]|Hereditary cancer-predisposing syndrome [RCV001012296] |
Chr16:23634960 [GRCh38]
Chr16:23646281 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3113+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV002550843]|Hereditary cancer-predisposing syndrome [RCV001018702] |
Chr16:23621361 [GRCh38]
Chr16:23632682 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3132A>G (p.Gln1044=) |
single nucleotide variant |
Familial cancer of breast [RCV001483291]|Hereditary cancer-predisposing syndrome [RCV001018757] |
Chr16:23614073 [GRCh38]
Chr16:23625394 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001048640]|Hereditary cancer-predisposing syndrome [RCV003283899] |
Chr16:23629669 [GRCh38]
Chr16:23640990 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2742del (p.Phe914fs) |
deletion |
Familial cancer of breast [RCV001215831] |
Chr16:23626242 [GRCh38]
Chr16:23637563 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1562C>A (p.Thr521Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001215935] |
Chr16:23634984 [GRCh38]
Chr16:23646305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3254T>C (p.Leu1085Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001204922]|Hereditary cancer-predisposing syndrome [RCV004649485] |
Chr16:23607960 [GRCh38]
Chr16:23619281 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3284T>C (p.Ile1095Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001216015]|Hereditary cancer-predisposing syndrome [RCV003163660] |
Chr16:23607930 [GRCh38]
Chr16:23619251 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3(PALB2):c.1686delG |
deletion |
Familial cancer of breast [RCV003455077]|Hereditary cancer-predisposing syndrome [RCV001012706]|Malignant tumor of breast [RCV001358477] |
Chr16:23630468 [GRCh38]
Chr16:23641789 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1685-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012722] |
Chr16:23630473 [GRCh38]
Chr16:23641794 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2405del (p.Cys802fs) |
deletion |
Familial cancer of breast [RCV001246884]|Hereditary breast ovarian cancer syndrome [RCV002241804]|Hereditary cancer-predisposing syndrome [RCV002447223] |
Chr16:23629749 [GRCh38]
Chr16:23641070 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1156del (p.Thr386fs) |
deletion |
Familial cancer of breast [RCV001246893]|Hereditary cancer-predisposing syndrome [RCV002255638] |
Chr16:23635390 [GRCh38]
Chr16:23646711 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.712A>T (p.Arg238Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001242112]|Hereditary cancer-predisposing syndrome [RCV001026070] |
Chr16:23635834 [GRCh38]
Chr16:23647155 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.674dup (p.Thr226fs) |
duplication |
Familial cancer of breast [RCV001063796] |
Chr16:23635871..23635872 [GRCh38]
Chr16:23647192..23647193 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3361G>A (p.Gly1121Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003607385]|Hereditary cancer-predisposing syndrome [RCV001020089] |
Chr16:23603659 [GRCh38]
Chr16:23614980 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val) |
single nucleotide variant |
Familial cancer of breast [RCV001361922]|Familial ovarian cancer [RCV001356031]|Hereditary cancer-predisposing syndrome [RCV001020240]|not provided [RCV004588497]|not specified [RCV004702583] |
Chr16:23603605 [GRCh38]
Chr16:23614926 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe) |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 3 [RCV001258208] |
Chr16:23635247 [GRCh38]
Chr16:23646568 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1870C>G (p.Leu624Val) |
single nucleotide variant |
Familial cancer of breast [RCV001304593] |
Chr16:23630284 [GRCh38]
Chr16:23641605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.150A>T (p.Lys50Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001304599] |
Chr16:23637911 [GRCh38]
Chr16:23649232 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1369del (p.Glu457fs) |
deletion |
Familial cancer of breast [RCV003451946]|Hereditary cancer-predisposing syndrome [RCV001804439] |
Chr16:23635177 [GRCh38]
Chr16:23646498 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.341_342delinsAT (p.Gly114Asp) |
indel |
Familial cancer of breast [RCV001304682]|Hereditary cancer-predisposing syndrome [RCV003584885] |
Chr16:23636204..23636205 [GRCh38]
Chr16:23647525..23647526 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2514G>T (p.Gln838His) |
single nucleotide variant |
Familial cancer of breast [RCV001908059] |
Chr16:23629640 [GRCh38]
Chr16:23640961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) |
deletion |
Familial cancer of breast [RCV003449818]|Hereditary cancer-predisposing syndrome [RCV002436980]|Pancreatic cancer, susceptibility to, 3 [RCV001258100] |
Chr16:23622990..23622991 [GRCh38]
Chr16:23634311..23634312 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2967A>G (p.Val989=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258177]|not specified [RCV001260412] |
Chr16:23622998 [GRCh38]
Chr16:23634319 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2669C>T (p.Ala890Val) |
single nucleotide variant |
Familial cancer of breast [RCV001319543] |
Chr16:23626315 [GRCh38]
Chr16:23637636 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.592C>T (p.His198Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001338145]|Hereditary cancer-predisposing syndrome [RCV002357177] |
Chr16:23635954 [GRCh38]
Chr16:23647275 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.817C>T (p.Leu273Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001341781]|Hereditary cancer-predisposing syndrome [RCV002431956] |
Chr16:23635729 [GRCh38]
Chr16:23647050 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001305452] |
Chr16:23635440 [GRCh38]
Chr16:23646761 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1200A>T (p.Glu400Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001300692] |
Chr16:23635346 [GRCh38]
Chr16:23646667 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1376A>T (p.Asp459Val) |
single nucleotide variant |
Familial cancer of breast [RCV001351198] |
Chr16:23635170 [GRCh38]
Chr16:23646491 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.562G>T (p.Ala188Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001299127] |
Chr16:23635984 [GRCh38]
Chr16:23647305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+3A>G |
single nucleotide variant |
Familial cancer of breast [RCV001316997]|Hereditary cancer-predisposing syndrome [RCV004656516] |
Chr16:23637847 [GRCh38]
Chr16:23649168 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23640515)_(23652488_?)dup |
duplication |
Familial cancer of breast [RCV001315014] |
Chr16:23640515..23652488 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3413C>G (p.Ala1138Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001339173]|Hereditary cancer-predisposing syndrome [RCV003365339]|not provided [RCV004762102] |
Chr16:23603607 [GRCh38]
Chr16:23614928 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1267G>A (p.Val423Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001320748] |
Chr16:23635279 [GRCh38]
Chr16:23646600 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1183T>C (p.Ser395Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001337323] |
Chr16:23635363 [GRCh38]
Chr16:23646684 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1943_1948del (p.Leu648_Glu650delinsGln) |
deletion |
Familial cancer of breast [RCV001317201] |
Chr16:23630206..23630211 [GRCh38]
Chr16:23641527..23641532 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.296C>T (p.Thr99Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001303223] |
Chr16:23636250 [GRCh38]
Chr16:23647571 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2435C>G (p.Pro812Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001309284]|Hereditary cancer-predisposing syndrome [RCV001806110] |
Chr16:23629719 [GRCh38]
Chr16:23641040 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23646173)_(23652478_?)dup |
duplication |
Familial cancer of breast [RCV001305612] |
Chr16:23646173..23652478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23625315)_(23635425_?)dup |
duplication |
Familial cancer of breast [RCV001305613] |
Chr16:23625315..23635425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.634C>G (p.Pro212Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001342931]|Hereditary cancer-predisposing syndrome [RCV002368132] |
Chr16:23635912 [GRCh38]
Chr16:23647233 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.715A>G (p.Arg239Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001351426] |
Chr16:23635831 [GRCh38]
Chr16:23647152 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2645G>A (p.Cys882Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001298269]|Hereditary cancer-predisposing syndrome [RCV002430092] |
Chr16:23626339 [GRCh38]
Chr16:23637660 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.20A>T (p.Lys7Met) |
single nucleotide variant |
Familial cancer of breast [RCV001317714] |
Chr16:23641138 [GRCh38]
Chr16:23652459 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3221T>G (p.Leu1074Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001348368]|Hereditary cancer-predisposing syndrome [RCV004651603] |
Chr16:23607993 [GRCh38]
Chr16:23619314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1915G>C (p.Glu639Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001317961]|Hereditary cancer-predisposing syndrome [RCV003166836] |
Chr16:23630239 [GRCh38]
Chr16:23641560 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2707G>A (p.Ala903Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001340061]|Hereditary cancer-predisposing syndrome [RCV002438773] |
Chr16:23626277 [GRCh38]
Chr16:23637598 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2678A>G (p.Asp893Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001349682] |
Chr16:23626306 [GRCh38]
Chr16:23637627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2742C>A (p.Phe914Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001338130] |
Chr16:23626242 [GRCh38]
Chr16:23637563 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3182A>G (p.His1061Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001326841]|not provided [RCV001751634] |
Chr16:23614023 [GRCh38]
Chr16:23625344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.553A>G (p.Lys185Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001342754] |
Chr16:23635993 [GRCh38]
Chr16:23647314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2829G>C (p.Glu943Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001320889] |
Chr16:23624014 [GRCh38]
Chr16:23635335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.545T>C (p.Ile182Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001313617] |
Chr16:23636001 [GRCh38]
Chr16:23647322 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2303G>A (p.Cys768Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001350050] |
Chr16:23629851 [GRCh38]
Chr16:23641172 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2566C>G (p.Gln856Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001341138] |
Chr16:23629224 [GRCh38]
Chr16:23640545 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3199A>C (p.Met1067Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001294438] |
Chr16:23614006 [GRCh38]
Chr16:23625327 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA (p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLeuLeuPhePheMetAsn) |
insertion |
Familial cancer of breast [RCV001306347] |
Chr16:23621374..23621375 [GRCh38]
Chr16:23632695..23632696 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001350098]|Hereditary cancer-predisposing syndrome [RCV004651609] |
Chr16:23630409 [GRCh38]
Chr16:23641730 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer) |
insertion |
Familial cancer of breast [RCV001382859] |
Chr16:23635203..23635204 [GRCh38]
Chr16:23646524..23646525 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3351G>A (p.Arg1117=) |
single nucleotide variant |
Familial cancer of breast [RCV001362324]|Hereditary cancer-predisposing syndrome [RCV004036835] |
Chr16:23603669 [GRCh38]
Chr16:23614990 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter) |
indel |
Familial cancer of breast [RCV001382915] |
Chr16:23630086..23630087 [GRCh38]
Chr16:23641407..23641408 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1302T>C (p.Asp434=) |
single nucleotide variant |
Familial cancer of breast [RCV001433835] |
Chr16:23635244 [GRCh38]
Chr16:23646565 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3:c.(3201+1_3202-1)_(3350+1_3351-1)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001376101] |
|
pathogenic |
| NM_024675.4(PALB2):c.2997-161_3113+4del |
deletion |
Pancreatic cancer, susceptibility to, 3 [RCV001354294] |
Chr16:23621358..23621639 [GRCh38]
Chr16:23632679..23632960 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3351-150_*2del |
deletion |
Malignant tumor of breast [RCV001354466] |
Chr16:23603457..23603819 [GRCh38]
Chr16:23614778..23615140 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001372589]|not specified [RCV002246346] |
Chr16:23621477 [GRCh38]
Chr16:23632798 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1309A>G (p.Lys437Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001314520] |
Chr16:23635237 [GRCh38]
Chr16:23646558 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.502T>G (p.Ser168Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001361831] |
Chr16:23636044 [GRCh38]
Chr16:23647365 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2562C>G (p.Asn854Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001305604] |
Chr16:23629228 [GRCh38]
Chr16:23640549 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu) |
single nucleotide variant |
Endometrial carcinoma [RCV001357282]|Familial cancer of breast [RCV002547658]|Hereditary cancer-predisposing syndrome [RCV003298558]|not provided [RCV001751694] |
Chr16:23603583 [GRCh38]
Chr16:23614904 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1435C>G (p.Gln479Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001307537]|Hereditary cancer-predisposing syndrome [RCV002393729] |
Chr16:23635111 [GRCh38]
Chr16:23646432 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2575del (p.Ser859fs) |
deletion |
Familial cancer of breast [RCV001871942]|Hereditary cancer-predisposing syndrome [RCV003169768]|Malignant tumor of breast [RCV001357551] |
Chr16:23629215 [GRCh38]
Chr16:23640536 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1900C>T (p.Pro634Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001369353] |
Chr16:23630254 [GRCh38]
Chr16:23641575 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.941A>G (p.Gln314Arg) |
single nucleotide variant |
Carcinoma of colon [RCV001355814] |
Chr16:23635605 [GRCh38]
Chr16:23646926 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-1G>C |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001799366] |
Chr16:23614092 [GRCh38]
Chr16:23625413 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.859G>T (p.Val287Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001327544]|Hereditary cancer-predisposing syndrome [RCV002447381] |
Chr16:23635687 [GRCh38]
Chr16:23647008 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2887T>C (p.Ser963Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001369392] |
Chr16:23623078 [GRCh38]
Chr16:23634399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1414C>A (p.Gln472Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001358964] |
Chr16:23635132 [GRCh38]
Chr16:23646453 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3348C>T (p.Gly1116=) |
single nucleotide variant |
Familial cancer of breast [RCV001358978]|Hereditary cancer-predisposing syndrome [RCV003365359] |
Chr16:23607866 [GRCh38]
Chr16:23619187 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.52A>C (p.Lys18Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001370150] |
Chr16:23638126 [GRCh38]
Chr16:23649447 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1149G>A (p.Leu383=) |
single nucleotide variant |
Familial cancer of breast [RCV001413767] |
Chr16:23635397 [GRCh38]
Chr16:23646718 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1752T>G (p.Asp584Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001302587] |
Chr16:23630402 [GRCh38]
Chr16:23641723 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+10_3113+15del |
deletion |
Familial cancer of breast [RCV001413833] |
Chr16:23621347..23621352 [GRCh38]
Chr16:23632668..23632673 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1887C>T (p.Ser629=) |
single nucleotide variant |
Familial cancer of breast [RCV001433484] |
Chr16:23630267 [GRCh38]
Chr16:23641588 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.892_893del (p.Val298fs) |
deletion |
Carcinoma of colon [RCV001357001]|Familial cancer of breast [RCV003450002] |
Chr16:23635653..23635654 [GRCh38]
Chr16:23646974..23646975 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.98C>T (p.Ala33Val) |
single nucleotide variant |
Familial cancer of breast [RCV001359664] |
Chr16:23638080 [GRCh38]
Chr16:23649401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3331C>T (p.Pro1111Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001373419] |
Chr16:23607883 [GRCh38]
Chr16:23619204 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1427dup (p.Thr477fs) |
duplication |
Familial cancer of breast [RCV001382572]|Hereditary cancer-predisposing syndrome [RCV002395865] |
Chr16:23635118..23635119 [GRCh38]
Chr16:23646439..23646440 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2647A>G (p.Lys883Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001304337]|Hereditary cancer-predisposing syndrome [RCV002451685] |
Chr16:23626337 [GRCh38]
Chr16:23637658 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.520A>G (p.Lys174Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001362577] |
Chr16:23636026 [GRCh38]
Chr16:23647347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3248dup (p.Ser1084fs) |
duplication |
Familial cancer of breast [RCV001382591] |
Chr16:23607965..23607966 [GRCh38]
Chr16:23619286..23619287 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del |
deletion |
Malignant tumor of breast [RCV001328368] |
Chr16:23635392..23635416 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3404G>T (p.Gly1135Val) |
single nucleotide variant |
Familial cancer of breast [RCV001304558] |
Chr16:23603616 [GRCh38]
Chr16:23614937 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.557A>G (p.Asn186Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001371738]|Hereditary cancer-predisposing syndrome [RCV004037514] |
Chr16:23635989 [GRCh38]
Chr16:23647310 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3113+204G>A |
single nucleotide variant |
not provided [RCV001538536] |
Chr16:23621158 [GRCh38]
Chr16:23632479 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro) |
single nucleotide variant |
Carcinoma of colon [RCV001356612]|Familial cancer of breast [RCV001304628]|Hereditary cancer-predisposing syndrome [RCV002411971] |
Chr16:23630434 [GRCh38]
Chr16:23641755 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2316T>G (p.Asp772Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001296942] |
Chr16:23629838 [GRCh38]
Chr16:23641159 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2665A>G (p.Thr889Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001350191] |
Chr16:23626319 [GRCh38]
Chr16:23637640 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1072C>G (p.Pro358Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001322774] |
Chr16:23635474 [GRCh38]
Chr16:23646795 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1433C>G (p.Ser478Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001306414] |
Chr16:23635113 [GRCh38]
Chr16:23646434 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1700A>G (p.His567Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001299053]|not provided [RCV003148977] |
Chr16:23630454 [GRCh38]
Chr16:23641775 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-1_3201+2del |
deletion |
Pancreatic cancer, susceptibility to, 3 [RCV001355345] |
Chr16:23614002..23614092 [GRCh38]
Chr16:23625323..23625413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23614634)_(23652478_?)dup |
duplication |
Familial cancer of breast [RCV001346672] |
Chr16:23614634..23652478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3196G>A (p.Glu1066Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001373793] |
Chr16:23614009 [GRCh38]
Chr16:23625330 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2348C>A (p.Ala783Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001369725] |
Chr16:23629806 [GRCh38]
Chr16:23641127 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2596G>A (p.Gly866Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001318682]|Hereditary cancer-predisposing syndrome [RCV003584890] |
Chr16:23626388 [GRCh38]
Chr16:23637709 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1535A>G (p.Tyr512Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001342134] |
Chr16:23635011 [GRCh38]
Chr16:23646332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1614T>G (p.Ile538Met) |
single nucleotide variant |
Familial cancer of breast [RCV001342135]|Hereditary cancer-predisposing syndrome [RCV002404799] |
Chr16:23634932 [GRCh38]
Chr16:23646253 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys) |
single nucleotide variant |
Familial cancer of breast [RCV004570864]|Malignant tumor of breast [RCV001356804] |
Chr16:23621444 [GRCh38]
Chr16:23632765 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2051C>G (p.Pro684Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001359061]|Hereditary cancer-predisposing syndrome [RCV002420780] |
Chr16:23630103 [GRCh38]
Chr16:23641424 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3430C>G (p.Leu1144Val) |
single nucleotide variant |
Familial cancer of breast [RCV001296034]|Hereditary cancer-predisposing syndrome [RCV002451654] |
Chr16:23603590 [GRCh38]
Chr16:23614911 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.458G>A (p.Arg153Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001300182] |
Chr16:23636088 [GRCh38]
Chr16:23647409 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001300197]|Hereditary cancer-predisposing syndrome [RCV002350539] |
Chr16:23635534 [GRCh38]
Chr16:23646855 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2918C>A (p.Thr973Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001301681]|Hereditary cancer-predisposing syndrome [RCV002437023] |
Chr16:23623047 [GRCh38]
Chr16:23634368 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2722A>C (p.Lys908Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001321862] |
Chr16:23626262 [GRCh38]
Chr16:23637583 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.94C>A (p.Leu32Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001344906]|not provided [RCV004719141] |
Chr16:23638084 [GRCh38]
Chr16:23649405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.811A>G (p.Ser271Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001345902]|Hereditary cancer-predisposing syndrome [RCV002419023] |
Chr16:23635735 [GRCh38]
Chr16:23647056 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3197_3201+5dup |
duplication |
Familial cancer of breast [RCV001345923] |
Chr16:23613998..23613999 [GRCh38]
Chr16:23625319..23625320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1813T>G (p.Ser605Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001371715] |
Chr16:23630341 [GRCh38]
Chr16:23641662 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1886C>A (p.Ser629Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001365114]|Hereditary cancer-predisposing syndrome [RCV002413870] |
Chr16:23630268 [GRCh38]
Chr16:23641589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.766A>G (p.Ser256Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001349324]|Hereditary cancer-predisposing syndrome [RCV001526083]|PALB2-related disorder [RCV004528476]|not specified [RCV002268474] |
Chr16:23635780 [GRCh38]
Chr16:23647101 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV001377139]|Hereditary breast ovarian cancer syndrome [RCV001269178]|not provided [RCV003478760] |
Chr16:23622967 [GRCh38]
Chr16:23634288 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1685-2A>C |
single nucleotide variant |
Familial cancer of breast [RCV001346019]|Hereditary cancer-predisposing syndrome [RCV002412087] |
Chr16:23630471 [GRCh38]
Chr16:23641792 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.2348C>T (p.Ala783Val) |
single nucleotide variant |
Familial cancer of breast [RCV001373883]|Hereditary cancer-predisposing syndrome [RCV004037588] |
Chr16:23629806 [GRCh38]
Chr16:23641127 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.238G>A (p.Asp80Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001362979] |
Chr16:23636308 [GRCh38]
Chr16:23647629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.38A>T (p.Glu13Val) |
single nucleotide variant |
Familial cancer of breast [RCV001338033] |
Chr16:23641120 [GRCh38]
Chr16:23652441 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2501A>G (p.His834Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001338816]|Hereditary cancer-predisposing syndrome [RCV003169599] |
Chr16:23629653 [GRCh38]
Chr16:23640974 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.117A>G (p.Gln39=) |
single nucleotide variant |
Familial cancer of breast [RCV001322035] |
Chr16:23637944 [GRCh38]
Chr16:23649265 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1499C>G (p.Ser500Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001324183] |
Chr16:23635047 [GRCh38]
Chr16:23646368 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001352366]|Hereditary cancer-predisposing syndrome [RCV003284250] |
Chr16:23635350 [GRCh38]
Chr16:23646671 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3289C>T (p.Pro1097Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001302028] |
Chr16:23607925 [GRCh38]
Chr16:23619246 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.64G>C (p.Ala22Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001344066]|Hereditary cancer-predisposing syndrome [RCV002368134] |
Chr16:23638114 [GRCh38]
Chr16:23649435 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.689A>G (p.Glu230Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001322135]|Hereditary cancer-predisposing syndrome [RCV003584894] |
Chr16:23635857 [GRCh38]
Chr16:23647178 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3298A>G (p.Thr1100Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001345051] |
Chr16:23607916 [GRCh38]
Chr16:23619237 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1762T>C (p.Phe588Leu) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004671342]|Familial cancer of breast [RCV001324267] |
Chr16:23630392 [GRCh38]
Chr16:23641713 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.361A>G (p.Thr121Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001344163]|Hereditary cancer-predisposing syndrome [RCV002460146] |
Chr16:23636185 [GRCh38]
Chr16:23647506 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3157G>T (p.Asp1053Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001361486]|Hereditary cancer-predisposing syndrome [RCV002322322] |
Chr16:23614048 [GRCh38]
Chr16:23625369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.457A>C (p.Arg153=) |
single nucleotide variant |
Familial cancer of breast [RCV002547596]|Hereditary cancer-predisposing syndrome [RCV002341741]|Malignant tumor of breast [RCV001354820] |
Chr16:23636089 [GRCh38]
Chr16:23647410 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2254G>A (p.Gly752Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001300618] |
Chr16:23629900 [GRCh38]
Chr16:23641221 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001342671] |
Chr16:23635239 [GRCh38]
Chr16:23646560 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3077T>C (p.Leu1026Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001326881] |
Chr16:23621398 [GRCh38]
Chr16:23632719 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1870C>A (p.Leu624Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001319204] |
Chr16:23630284 [GRCh38]
Chr16:23641605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.896C>T (p.Ser299Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001300666]|Hereditary cancer-predisposing syndrome [RCV003584881] |
Chr16:23635650 [GRCh38]
Chr16:23646971 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.215C>G (p.Pro72Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001294698]|Hereditary cancer-predisposing syndrome [RCV002430077] |
Chr16:23636331 [GRCh38]
Chr16:23647652 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.923C>T (p.Ala308Val) |
single nucleotide variant |
Familial cancer of breast [RCV001347591]|Hereditary cancer-predisposing syndrome [RCV004651601] |
Chr16:23635623 [GRCh38]
Chr16:23646944 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1390A>T (p.Arg464Trp) |
single nucleotide variant |
Familial cancer of breast [RCV001359027] |
Chr16:23635156 [GRCh38]
Chr16:23646477 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1133C>G (p.Pro378Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001320899] |
Chr16:23635413 [GRCh38]
Chr16:23646734 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1204C>G (p.Leu402Val) |
single nucleotide variant |
Familial cancer of breast [RCV001347768]|Hereditary cancer-predisposing syndrome [RCV001526162] |
Chr16:23635342 [GRCh38]
Chr16:23646663 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.385C>T (p.Pro129Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001351434]|Hereditary cancer-predisposing syndrome [RCV004036654] |
Chr16:23636161 [GRCh38]
Chr16:23647482 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1645C>T (p.His549Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001307132] |
Chr16:23634901 [GRCh38]
Chr16:23646222 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.16G>A (p.Gly6Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001322515] |
Chr16:23641142 [GRCh38]
Chr16:23652463 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3524A>G (p.Gln1175Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001323540] |
Chr16:23603496 [GRCh38]
Chr16:23614817 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3109A>G (p.Ile1037Val) |
single nucleotide variant |
Familial cancer of breast [RCV001317257] |
Chr16:23621366 [GRCh38]
Chr16:23632687 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.225A>T (p.Lys75Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001344446]|Hereditary cancer-predisposing syndrome [RCV003169662] |
Chr16:23636321 [GRCh38]
Chr16:23647642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1849G>A (p.Glu617Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001348015] |
Chr16:23630305 [GRCh38]
Chr16:23641626 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1978A>G (p.Ser660Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001373113] |
Chr16:23630176 [GRCh38]
Chr16:23641497 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2087C>A (p.Thr696Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001370856] |
Chr16:23630067 [GRCh38]
Chr16:23641388 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2039G>A (p.Gly680Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001360013] |
Chr16:23630115 [GRCh38]
Chr16:23641436 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.777T>A (p.Ser259Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001295685] |
Chr16:23635769 [GRCh38]
Chr16:23647090 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1160CTC[3] (p.Pro388dup) |
microsatellite |
Familial cancer of breast [RCV001340266] |
Chr16:23635380..23635381 [GRCh38]
Chr16:23646701..23646702 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.197A>G (p.Gln66Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001319567] |
Chr16:23637864 [GRCh38]
Chr16:23649185 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2407G>T (p.Asp803Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001350154]|Hereditary cancer-predisposing syndrome [RCV002447432] |
Chr16:23629747 [GRCh38]
Chr16:23641068 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2155C>T (p.Pro719Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001364379]|Hereditary cancer-predisposing syndrome [RCV002432026]|not specified [RCV002268477] |
Chr16:23629999 [GRCh38]
Chr16:23641320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1781G>C (p.Arg594Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001345608] |
Chr16:23630373 [GRCh38]
Chr16:23641694 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2583A>T (p.Leu861Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001324424]|Hereditary cancer-predisposing syndrome [RCV002431924] |
Chr16:23629207 [GRCh38]
Chr16:23640528 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.983C>A (p.Ser328Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001363973] |
Chr16:23635563 [GRCh38]
Chr16:23646884 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.88A>G (p.Lys30Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001325272] |
Chr16:23638090 [GRCh38]
Chr16:23649411 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.876A>C (p.Gln292His) |
single nucleotide variant |
Familial cancer of breast [RCV001326156] |
Chr16:23635670 [GRCh38]
Chr16:23646991 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.95T>C (p.Leu32Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001296782] |
Chr16:23638083 [GRCh38]
Chr16:23649404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001317568]|Hereditary cancer-predisposing syndrome [RCV002402884] |
Chr16:23634990 [GRCh38]
Chr16:23646311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3146T>G (p.Met1049Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001299815] |
Chr16:23614059 [GRCh38]
Chr16:23625380 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2932G>A (p.Val978Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001295216]|Hereditary cancer-predisposing syndrome [RCV004035635]|not provided [RCV001760336] |
Chr16:23623033 [GRCh38]
Chr16:23634354 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.557A>C (p.Asn186Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001337558] |
Chr16:23635989 [GRCh38]
Chr16:23647310 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+3A>G |
single nucleotide variant |
Familial cancer of breast [RCV001339913] |
Chr16:23614001 [GRCh38]
Chr16:23625322 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1316G>A (p.Gly439Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001314523]|Hereditary cancer-predisposing syndrome [RCV003375208]|not provided [RCV001776189] |
Chr16:23635230 [GRCh38]
Chr16:23646551 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1828A>G (p.Thr610Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001314602] |
Chr16:23630326 [GRCh38]
Chr16:23641647 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1418C>T (p.Pro473Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001314046] |
Chr16:23635128 [GRCh38]
Chr16:23646449 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.180G>A (p.Gln60=) |
single nucleotide variant |
Familial cancer of breast [RCV001413252] |
Chr16:23637881 [GRCh38]
Chr16:23649202 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2104A>G (p.Ile702Val) |
single nucleotide variant |
Familial cancer of breast [RCV001340361] |
Chr16:23630050 [GRCh38]
Chr16:23641371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.(3113+1_3114-1)_(3201+1_3202-1)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001376099] |
|
pathogenic |
| NM_024675.4(PALB2):c.755C>T (p.Thr252Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003770403]|Hereditary cancer-predisposing syndrome [RCV002393681]|not specified [RCV001269271] |
Chr16:23635791 [GRCh38]
Chr16:23647112 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.(1684+1_1685-1)_(2748+1_2749-1)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001376100] |
|
pathogenic |
| NM_024675.3:c.(3201+1_3202-1)_(*297+?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001376102] |
|
uncertain significance |
| NM_024675.4(PALB2):c.662T>C (p.Val221Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001351439] |
Chr16:23635884 [GRCh38]
Chr16:23647205 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1722T>C (p.Ser574=) |
single nucleotide variant |
Familial cancer of breast [RCV001394739] |
Chr16:23630432 [GRCh38]
Chr16:23641753 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.665T>C (p.Leu222Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001368037] |
Chr16:23635881 [GRCh38]
Chr16:23647202 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1591T>C (p.Leu531=) |
single nucleotide variant |
Familial cancer of breast [RCV001414219] |
Chr16:23634955 [GRCh38]
Chr16:23646276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2404T>A (p.Cys802Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001296311] |
Chr16:23629750 [GRCh38]
Chr16:23641071 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.151A>T (p.Thr51Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001369746] |
Chr16:23637910 [GRCh38]
Chr16:23649231 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2975T>C (p.Met992Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001305952]|Hereditary cancer-predisposing syndrome [RCV002437040] |
Chr16:23622990 [GRCh38]
Chr16:23634311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2224T>G (p.Ser742Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001307188] |
Chr16:23629930 [GRCh38]
Chr16:23641251 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1585C>T (p.Pro529Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001307215] |
Chr16:23634961 [GRCh38]
Chr16:23646282 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3512T>C (p.Leu1171Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001372072] |
Chr16:23603508 [GRCh38]
Chr16:23614829 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.939C>T (p.Gly313=) |
single nucleotide variant |
Familial cancer of breast [RCV001494360] |
Chr16:23635607 [GRCh38]
Chr16:23646928 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.39G>C (p.Glu13Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001369054] |
Chr16:23641119 [GRCh38]
Chr16:23652440 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2417C>G (p.Pro806Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001369085] |
Chr16:23629737 [GRCh38]
Chr16:23641058 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1865T>C (p.Leu622Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001326173]|Hereditary cancer-predisposing syndrome [RCV001525969] |
Chr16:23630289 [GRCh38]
Chr16:23641610 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.240C>G (p.Asp80Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001317592] |
Chr16:23636306 [GRCh38]
Chr16:23647627 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(23619334_23625324)_(23625413_23632682)dup |
duplication |
Hereditary breast ovarian cancer syndrome [RCV001420929] |
Chr16:23625324..23625413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1876A>C (p.Lys626Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001365947] |
Chr16:23630278 [GRCh38]
Chr16:23641599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2349A>G (p.Ala783=) |
single nucleotide variant |
Familial cancer of breast [RCV001492108] |
Chr16:23629805 [GRCh38]
Chr16:23641126 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2806T>C (p.Leu936=) |
single nucleotide variant |
Familial cancer of breast [RCV001492152]|not provided [RCV003225187] |
Chr16:23624037 [GRCh38]
Chr16:23635358 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1290G>A (p.Gln430=) |
single nucleotide variant |
Familial cancer of breast [RCV001454419] |
Chr16:23635256 [GRCh38]
Chr16:23646577 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23637547)_(23637728_?)del |
deletion |
Familial cancer of breast [RCV001377558] |
Chr16:23637547..23637728 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23619175)_(23625422_?)del |
deletion |
Familial cancer of breast [RCV001377559] |
Chr16:23619175..23625422 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.887del (p.Met296fs) |
deletion |
Familial cancer of breast [RCV001380161]|Hereditary cancer-predisposing syndrome [RCV002447507] |
Chr16:23635659 [GRCh38]
Chr16:23646980 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1716C>T (p.Ser572=) |
single nucleotide variant |
Familial cancer of breast [RCV001481453] |
Chr16:23630438 [GRCh38]
Chr16:23641759 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2232A>G (p.Glu744=) |
single nucleotide variant |
Familial cancer of breast [RCV001491104]|Hereditary cancer-predisposing syndrome [RCV001526017]|not provided [RCV001574805] |
Chr16:23629922 [GRCh38]
Chr16:23641243 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3129T>G (p.Gly1043=) |
single nucleotide variant |
Familial cancer of breast [RCV001468281] |
Chr16:23614076 [GRCh38]
Chr16:23625397 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1320dup (p.Lys441Ter) |
duplication |
Familial cancer of breast [RCV001380325] |
Chr16:23635225..23635226 [GRCh38]
Chr16:23646546..23646547 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23619175)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV001389624] |
Chr16:23619175..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.924T>C (p.Ala308=) |
single nucleotide variant |
Familial cancer of breast [RCV001461063]|Hereditary cancer-predisposing syndrome [RCV004038596] |
Chr16:23635622 [GRCh38]
Chr16:23646943 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2733C>T (p.Thr911=) |
single nucleotide variant |
Familial cancer of breast [RCV001464417]|Hereditary cancer-predisposing syndrome [RCV003365410] |
Chr16:23626251 [GRCh38]
Chr16:23637572 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer) |
deletion |
Familial cancer of breast [RCV001380470] |
Chr16:23629242..23629263 [GRCh38]
Chr16:23640563..23640584 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2646T>G (p.Cys882Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001525677] |
Chr16:23626338 [GRCh38]
Chr16:23637659 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2781T>C (p.Asp927=) |
single nucleotide variant |
Familial cancer of breast [RCV001399875] |
Chr16:23624062 [GRCh38]
Chr16:23635383 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV004039185]|Malignant tumor of breast [RCV001526973] |
Chr16:23603491..23603497 [GRCh38]
Chr16:23614812..23614818 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001387638] |
Chr16:23626353 [GRCh38]
Chr16:23637674 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.873A>G (p.Ala291=) |
single nucleotide variant |
Familial cancer of breast [RCV001476657]|Hereditary cancer-predisposing syndrome [RCV002377816] |
Chr16:23635673 [GRCh38]
Chr16:23646994 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1239A>G (p.Thr413=) |
single nucleotide variant |
Familial cancer of breast [RCV001485017] |
Chr16:23635307 [GRCh38]
Chr16:23646628 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.291T>G (p.Ser97=) |
single nucleotide variant |
Familial cancer of breast [RCV001488581]|Hereditary cancer-predisposing syndrome [RCV002256798] |
Chr16:23636255 [GRCh38]
Chr16:23647576 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1299G>A (p.Leu433=) |
single nucleotide variant |
Familial cancer of breast [RCV001471318] |
Chr16:23635247 [GRCh38]
Chr16:23646568 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-8T>G |
single nucleotide variant |
Familial cancer of breast [RCV001503542] |
Chr16:23624102 [GRCh38]
Chr16:23635423 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.173dup (p.Leu58fs) |
duplication |
Familial cancer of breast [RCV001380902] |
Chr16:23637887..23637888 [GRCh38]
Chr16:23649208..23649209 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2172T>C (p.Cys724=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524068] |
Chr16:23629982 [GRCh38]
Chr16:23641303 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1206_1208del (p.Leu403del) |
deletion |
Familial cancer of breast [RCV001872022]|Hereditary cancer-predisposing syndrome [RCV001524166] |
Chr16:23635338..23635340 [GRCh38]
Chr16:23646659..23646661 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2295C>T (p.Asp765=) |
single nucleotide variant |
Familial cancer of breast [RCV001489017]|Hereditary cancer-predisposing syndrome [RCV004037294] |
Chr16:23629859 [GRCh38]
Chr16:23641180 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1617T>C (p.Val539=) |
single nucleotide variant |
Familial cancer of breast [RCV001489018] |
Chr16:23634929 [GRCh38]
Chr16:23646250 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.750A>G (p.Leu250=) |
single nucleotide variant |
Familial cancer of breast [RCV001471772]|Hereditary cancer-predisposing syndrome [RCV002396115] |
Chr16:23635796 [GRCh38]
Chr16:23647117 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.288A>G (p.Thr96=) |
single nucleotide variant |
Familial cancer of breast [RCV001471775]|Hereditary cancer-predisposing syndrome [RCV002439122] |
Chr16:23636258 [GRCh38]
Chr16:23647579 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2730T>C (p.Tyr910=) |
single nucleotide variant |
Familial cancer of breast [RCV001471803]|Hereditary cancer-predisposing syndrome [RCV003365411] |
Chr16:23626254 [GRCh38]
Chr16:23637575 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.456G>A (p.Lys152=) |
single nucleotide variant |
Familial cancer of breast [RCV001452722] |
Chr16:23636090 [GRCh38]
Chr16:23647411 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2496_2500del (p.His832fs) |
deletion |
Familial cancer of breast [RCV001386048] |
Chr16:23629654..23629658 [GRCh38]
Chr16:23640975..23640979 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.904A>T (p.Asn302Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001872055]|Hereditary cancer-predisposing syndrome [RCV001524865] |
Chr16:23635642 [GRCh38]
Chr16:23646963 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1038A>C (p.Lys346Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524879] |
Chr16:23635508 [GRCh38]
Chr16:23646829 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.570A>C (p.Ser190=) |
single nucleotide variant |
Familial cancer of breast [RCV001489157] |
Chr16:23635976 [GRCh38]
Chr16:23647297 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1896A>G (p.Glu632=) |
single nucleotide variant |
Familial cancer of breast [RCV001486938] |
Chr16:23630258 [GRCh38]
Chr16:23641579 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.111T>A (p.Arg37=) |
single nucleotide variant |
Familial cancer of breast [RCV001442500] |
Chr16:23637950 [GRCh38]
Chr16:23649271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.23641376_23641377insAlu |
insertion |
Familial cancer of breast [RCV001383574] |
Chr16:23641376..23641377 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3153T>C (p.Ile1051=) |
single nucleotide variant |
Familial cancer of breast [RCV001484366] |
Chr16:23614052 [GRCh38]
Chr16:23625373 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2034A>T (p.Leu678=) |
single nucleotide variant |
Familial cancer of breast [RCV001415892] |
Chr16:23630120 [GRCh38]
Chr16:23641441 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1223_1224dup (p.Tyr409fs) |
microsatellite |
Familial cancer of breast [RCV001390903] |
Chr16:23635321..23635322 [GRCh38]
Chr16:23646642..23646643 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3494dup (p.Thr1167fs) |
duplication |
Familial cancer of breast [RCV001388688] |
Chr16:23603525..23603526 [GRCh38]
Chr16:23614846..23614847 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2587-4T>C |
single nucleotide variant |
Familial cancer of breast [RCV001472511] |
Chr16:23626401 [GRCh38]
Chr16:23637722 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.483C>T (p.Asp161=) |
single nucleotide variant |
Familial cancer of breast [RCV001493297] |
Chr16:23636063 [GRCh38]
Chr16:23647384 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.72G>A (p.Leu24=) |
single nucleotide variant |
Familial cancer of breast [RCV001493362] |
Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1254T>C (p.Asn418=) |
single nucleotide variant |
Familial cancer of breast [RCV001427127] |
Chr16:23635292 [GRCh38]
Chr16:23646613 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3384A>C (p.Ala1128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001526260] |
Chr16:23603636 [GRCh38]
Chr16:23614957 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.747T>C (p.Pro249=) |
single nucleotide variant |
Familial cancer of breast [RCV001492029] |
Chr16:23635799 [GRCh38]
Chr16:23647120 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.567A>G (p.Arg189=) |
single nucleotide variant |
Familial cancer of breast [RCV001493501]|Hereditary cancer-predisposing syndrome [RCV003584967] |
Chr16:23635979 [GRCh38]
Chr16:23647300 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.318C>T (p.Ser106=) |
single nucleotide variant |
Familial cancer of breast [RCV001457175] |
Chr16:23636228 [GRCh38]
Chr16:23647549 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2448C>T (p.Phe816=) |
single nucleotide variant |
Familial cancer of breast [RCV001393781] |
Chr16:23629706 [GRCh38]
Chr16:23641027 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.24C>T (p.Pro8=) |
single nucleotide variant |
Familial cancer of breast [RCV001427145]|Hereditary cancer-predisposing syndrome [RCV002456699] |
Chr16:23641134 [GRCh38]
Chr16:23652455 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) |
deletion |
Familial cancer of breast [RCV001389040]|Hereditary cancer-predisposing syndrome [RCV004037700] |
Chr16:23629800..23629801 [GRCh38]
Chr16:23641121..23641122 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3256C>A (p.Arg1086=) |
single nucleotide variant |
Familial cancer of breast [RCV001469168] |
Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV001523835] |
Chr16:23638068 [GRCh38]
Chr16:23649389 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) |
deletion |
Familial cancer of breast [RCV001387992]|Hereditary cancer-predisposing syndrome [RCV004037692]|not provided [RCV003319472] |
Chr16:23634998..23634999 [GRCh38]
Chr16:23646319..23646320 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3285_3286insGTTAATG (p.Asn1096fs) |
insertion |
Familial cancer of breast [RCV001389423] |
Chr16:23607928..23607929 [GRCh38]
Chr16:23619249..23619250 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2105dup (p.Leu703fs) |
duplication |
Familial cancer of breast [RCV001387212] |
Chr16:23630048..23630049 [GRCh38]
Chr16:23641369..23641370 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1491T>C (p.Asn497=) |
single nucleotide variant |
Familial cancer of breast [RCV001432462] |
Chr16:23635055 [GRCh38]
Chr16:23646376 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+10G>T |
single nucleotide variant |
Familial cancer of breast [RCV001443420] |
Chr16:23637840 [GRCh38]
Chr16:23649161 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+7G>T |
single nucleotide variant |
Familial cancer of breast [RCV001430348] |
Chr16:23626229 [GRCh38]
Chr16:23637550 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+10G>T |
single nucleotide variant |
Familial cancer of breast [RCV001407158] |
Chr16:23622959 [GRCh38]
Chr16:23634280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23634280)_(23641800_?)del |
deletion |
Familial cancer of breast [RCV001384711] |
Chr16:23634280..23641800 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23637551)_(23641796_?)dup |
duplication |
Familial cancer of breast [RCV001377817] |
Chr16:23637551..23641796 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23632677)_(23637724_?)dup |
duplication |
Familial cancer of breast [RCV001377818] |
Chr16:23632677..23637724 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.778_779insCC (p.Gln260fs) |
insertion |
Familial cancer of breast [RCV001388164] |
Chr16:23635767..23635768 [GRCh38]
Chr16:23647088..23647089 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001388172] |
Chr16:23630113 [GRCh38]
Chr16:23641434 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3136C>T (p.Leu1046=) |
single nucleotide variant |
Familial cancer of breast [RCV001446732] |
Chr16:23614069 [GRCh38]
Chr16:23625390 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.387C>T (p.Pro129=) |
single nucleotide variant |
Familial cancer of breast [RCV001423623]|Hereditary cancer-predisposing syndrome [RCV002256772] |
Chr16:23636159 [GRCh38]
Chr16:23647480 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23625315)_(23625422_?)del |
deletion |
Familial cancer of breast [RCV001389621] |
Chr16:23625315..23625422 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23619175)_(23619343_?)del |
deletion |
Familial cancer of breast [RCV001389622] |
Chr16:23619175..23619343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2382_2383delinsTT (p.Arg794_Gln795delinsSerTer) |
indel |
Familial cancer of breast [RCV001387688] |
Chr16:23629771..23629772 [GRCh38]
Chr16:23641092..23641093 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1587A>G (p.Pro529=) |
single nucleotide variant |
Familial cancer of breast [RCV001392981] |
Chr16:23634959 [GRCh38]
Chr16:23646280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.108+7_108+8delinsAT |
indel |
Familial cancer of breast [RCV001404923]|Familial cancer of breast [RCV002493960] |
Chr16:23638062..23638063 [GRCh38]
Chr16:23649383..23649384 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+8G>C |
single nucleotide variant |
Familial cancer of breast [RCV001446736] |
Chr16:23629196 [GRCh38]
Chr16:23640517 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2091C>T (p.Gly697=) |
single nucleotide variant |
Familial cancer of breast [RCV001446765] |
Chr16:23630063 [GRCh38]
Chr16:23641384 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+8A>C |
single nucleotide variant |
Familial cancer of breast [RCV001400359] |
Chr16:23622961 [GRCh38]
Chr16:23634282 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1224T>C (p.Tyr408=) |
single nucleotide variant |
Familial cancer of breast [RCV001446900] |
Chr16:23635322 [GRCh38]
Chr16:23646643 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1209G>C (p.Leu403=) |
single nucleotide variant |
Familial cancer of breast [RCV001441903]|Hereditary cancer-predisposing syndrome [RCV002358988] |
Chr16:23635337 [GRCh38]
Chr16:23646658 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+7C>A |
single nucleotide variant |
Familial cancer of breast [RCV001398262] |
Chr16:23637843 [GRCh38]
Chr16:23649164 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.691A>T (p.Lys231Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001388611] |
Chr16:23635855 [GRCh38]
Chr16:23647176 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3285_3286insGTTA (p.Asn1096fs) |
insertion |
Familial cancer of breast [RCV001388617] |
Chr16:23607928..23607929 [GRCh38]
Chr16:23619249..23619250 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.595del (p.Leu199fs) |
deletion |
Familial cancer of breast [RCV001388644] |
Chr16:23635951 [GRCh38]
Chr16:23647272 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3113+9T>G |
single nucleotide variant |
Familial cancer of breast [RCV001426376] |
Chr16:23621353 [GRCh38]
Chr16:23632674 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.849del (p.Phe283fs) |
deletion |
Familial cancer of breast [RCV001390536] |
Chr16:23635697 [GRCh38]
Chr16:23647018 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs) |
deletion |
Familial cancer of breast [RCV001388341] |
Chr16:23630133..23630134 [GRCh38]
Chr16:23641454..23641455 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2775G>A (p.Val925=) |
single nucleotide variant |
Familial cancer of breast [RCV001447700] |
Chr16:23624068 [GRCh38]
Chr16:23635389 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs) |
deletion |
Familial cancer of breast [RCV001381742] |
Chr16:23630042..23630045 [GRCh38]
Chr16:23641363..23641366 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2585del (p.Lys862fs) |
deletion |
Familial cancer of breast [RCV001390495]|Hereditary cancer-predisposing syndrome [RCV001775034] |
Chr16:23629205 [GRCh38]
Chr16:23640526 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.880A>T (p.Lys294Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001388498]|Hereditary cancer-predisposing syndrome [RCV002377576] |
Chr16:23635666 [GRCh38]
Chr16:23646987 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3414C>T (p.Ala1138=) |
single nucleotide variant |
Familial cancer of breast [RCV001400109]|Hereditary cancer-predisposing syndrome [RCV004651636] |
Chr16:23603606 [GRCh38]
Chr16:23614927 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-9C>T |
single nucleotide variant |
Familial cancer of breast [RCV001437956]|Hereditary cancer-predisposing syndrome [RCV003584946] |
Chr16:23630478 [GRCh38]
Chr16:23641799 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.425del (p.Lys142fs) |
deletion |
Familial cancer of breast [RCV001380688] |
Chr16:23636121 [GRCh38]
Chr16:23647442 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3016T>C (p.Leu1006=) |
single nucleotide variant |
Familial cancer of breast [RCV001408769] |
Chr16:23621459 [GRCh38]
Chr16:23632780 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.990T>C (p.Asn330=) |
single nucleotide variant |
Familial cancer of breast [RCV001419444] |
Chr16:23635556 [GRCh38]
Chr16:23646877 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.10:g.23608013del |
deletion |
Familial cancer of breast [RCV001381777] |
Chr16:23608010 [GRCh38]
Chr16:23619331 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.879C>G (p.Gly293=) |
single nucleotide variant |
Familial cancer of breast [RCV001445469] |
Chr16:23635667 [GRCh38]
Chr16:23646988 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.276T>C (p.Thr92=) |
single nucleotide variant |
Familial cancer of breast [RCV001400308]|Hereditary cancer-predisposing syndrome [RCV002438920] |
Chr16:23636270 [GRCh38]
Chr16:23647591 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1803G>A (p.Lys601=) |
single nucleotide variant |
Familial cancer of breast [RCV001400346]|Hereditary cancer-predisposing syndrome [RCV003298654] |
Chr16:23630351 [GRCh38]
Chr16:23641672 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23640324)_23646511del |
deletion |
Familial cancer of breast [RCV001378772] |
|
likely pathogenic |
| NC_000016.9:g.(?_23614634)_(23625422_?)del |
deletion |
Familial cancer of breast [RCV001386955] |
Chr16:23614634..23625422 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1685-7T>A |
single nucleotide variant |
Familial cancer of breast [RCV001439155] |
Chr16:23630476 [GRCh38]
Chr16:23641797 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.378A>G (p.Glu126=) |
single nucleotide variant |
Familial cancer of breast [RCV001431736]|Hereditary cancer-predisposing syndrome [RCV003584943] |
Chr16:23636168 [GRCh38]
Chr16:23647489 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+10G>T |
single nucleotide variant |
Familial cancer of breast [RCV001398655] |
Chr16:23641100 [GRCh38]
Chr16:23652421 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) |
insertion |
Familial cancer of breast [RCV001384386] |
Chr16:23603518..23603519 [GRCh38]
Chr16:23614839..23614840 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3504C>T (p.Asp1168=) |
single nucleotide variant |
Familial cancer of breast [RCV001427275]|Hereditary cancer-predisposing syndrome [RCV002456700] |
Chr16:23603516 [GRCh38]
Chr16:23614837 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+8A>G |
single nucleotide variant |
Familial cancer of breast [RCV001406600] |
Chr16:23613996 [GRCh38]
Chr16:23625317 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23625315)_(23634461_?)del |
deletion |
Familial cancer of breast [RCV001387109] |
Chr16:23625315..23634461 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23647371)_23700359del |
deletion |
Familial cancer of breast [RCV001387110] |
|
pathogenic |
| NC_000016.9:g.(?_23605874)_23640542del |
deletion |
Familial cancer of breast [RCV001387111] |
|
pathogenic |
| NM_024675.4(PALB2):c.1008C>T (p.Asn336=) |
single nucleotide variant |
Familial cancer of breast [RCV001432197] |
Chr16:23635538 [GRCh38]
Chr16:23646859 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+9G>A |
single nucleotide variant |
Familial cancer of breast [RCV001404312] |
Chr16:23641101 [GRCh38]
Chr16:23652422 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.985C>T (p.Leu329=) |
single nucleotide variant |
Familial cancer of breast [RCV001404334]|Hereditary cancer-predisposing syndrome [RCV003584923] |
Chr16:23635561 [GRCh38]
Chr16:23646882 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2397C>T (p.Thr799=) |
single nucleotide variant |
Familial cancer of breast [RCV001445627] |
Chr16:23629757 [GRCh38]
Chr16:23641078 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1737T>G (p.Ala579=) |
single nucleotide variant |
Familial cancer of breast [RCV001411566] |
Chr16:23630417 [GRCh38]
Chr16:23641738 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(?_23632673)_(23635425_?)del |
deletion |
Familial cancer of breast [RCV001384712] |
Chr16:23632673..23635425 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2550A>C (p.Ile850=) |
single nucleotide variant |
Familial cancer of breast [RCV001438417] |
Chr16:23629240 [GRCh38]
Chr16:23640561 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2549del (p.Ile850fs) |
deletion |
Familial cancer of breast [RCV001387264] |
Chr16:23629241 [GRCh38]
Chr16:23640562 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2966dup (p.Glu990fs) |
duplication |
Familial cancer of breast [RCV001382115] |
Chr16:23622998..23622999 [GRCh38]
Chr16:23634319..23634320 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2052C>T (p.Pro684=) |
single nucleotide variant |
Familial cancer of breast [RCV001432478] |
Chr16:23630102 [GRCh38]
Chr16:23641423 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.945G>A (p.Leu315=) |
single nucleotide variant |
Familial cancer of breast [RCV001467709]|Hereditary cancer-predisposing syndrome [RCV002377793] |
Chr16:23635601 [GRCh38]
Chr16:23646922 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2100A>G (p.Ser700=) |
single nucleotide variant |
Familial cancer of breast [RCV001464228]|Hereditary cancer-predisposing syndrome [RCV003160885] |
Chr16:23630054 [GRCh38]
Chr16:23641375 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+183TAAA[7] |
microsatellite |
not provided [RCV001666478] |
Chr16:23634640..23634651 [GRCh38]
Chr16:23645961..23645972 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2910T>C (p.Leu970=) |
single nucleotide variant |
Familial cancer of breast [RCV001502085] |
Chr16:23623055 [GRCh38]
Chr16:23634376 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2493G>A (p.Leu831=) |
single nucleotide variant |
Familial cancer of breast [RCV001465152] |
Chr16:23629661 [GRCh38]
Chr16:23640982 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2280T>G (p.Leu760=) |
single nucleotide variant |
Familial cancer of breast [RCV001458558] |
Chr16:23629874 [GRCh38]
Chr16:23641195 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+10G>C |
single nucleotide variant |
Familial cancer of breast [RCV001486502]|not specified [RCV002307748] |
Chr16:23641100 [GRCh38]
Chr16:23652421 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1500T>C (p.Ser500=) |
single nucleotide variant |
Familial cancer of breast [RCV001457978]|Hereditary cancer-predisposing syndrome [RCV002396075] |
Chr16:23635046 [GRCh38]
Chr16:23646367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+7C>G |
single nucleotide variant |
Familial cancer of breast [RCV001458955] |
Chr16:23634855 [GRCh38]
Chr16:23646176 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3018G>A (p.Leu1006=) |
single nucleotide variant |
Familial cancer of breast [RCV001476666] |
Chr16:23621457 [GRCh38]
Chr16:23632778 [GRCh37]
Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1 |
copy number loss |
Fanconi anemia complementation group N [RCV001535749] |
Chr16:23614483..23619333 [GRCh37]
Chr16:16p12.2 |
not provided |
| NM_024675.4(PALB2):c.212-16dup |
duplication |
Familial cancer of breast [RCV001517220]|Hereditary cancer-predisposing syndrome [RCV001524670] |
Chr16:23636343..23636344 [GRCh38]
Chr16:23647664..23647665 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.-48A>G |
single nucleotide variant |
not provided [RCV001611711] |
Chr16:23641205 [GRCh38]
Chr16:23652526 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2835-7dup |
duplication |
Familial cancer of breast [RCV001460627] |
Chr16:23623135..23623136 [GRCh38]
Chr16:23634456..23634457 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.730A>C (p.Arg244=) |
single nucleotide variant |
Familial cancer of breast [RCV001466964] |
Chr16:23635816 [GRCh38]
Chr16:23647137 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.129G>A (p.Lys43=) |
single nucleotide variant |
Familial cancer of breast [RCV001453161] |
Chr16:23637932 [GRCh38]
Chr16:23649253 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+95C>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225932]|not provided [RCV001716095] |
Chr16:23613909 [GRCh38]
Chr16:23625230 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2358T>C (p.His786=) |
single nucleotide variant |
Familial cancer of breast [RCV001453578]|Hereditary cancer-predisposing syndrome [RCV002449219] |
Chr16:23629796 [GRCh38]
Chr16:23641117 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.843T>A (p.Ile281=) |
single nucleotide variant |
Familial cancer of breast [RCV001488682] |
Chr16:23635703 [GRCh38]
Chr16:23647024 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-172A>G |
single nucleotide variant |
not provided [RCV001590399] |
Chr16:23614263 [GRCh38]
Chr16:23625584 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2544T>G (p.Asp848Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524267] |
Chr16:23629246 [GRCh38]
Chr16:23640567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+7G>C |
single nucleotide variant |
Familial cancer of breast [RCV001501637] |
Chr16:23607857 [GRCh38]
Chr16:23619178 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1271C>T (p.Ala424Val) |
single nucleotide variant |
Familial cancer of breast [RCV003500678]|Hereditary cancer-predisposing syndrome [RCV001524556] |
Chr16:23635275 [GRCh38]
Chr16:23646596 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2346A>C (p.Pro782=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524611] |
Chr16:23629808 [GRCh38]
Chr16:23641129 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2950dup (p.Leu984fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001524666] |
Chr16:23623014..23623015 [GRCh38]
Chr16:23634335..23634336 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1353A>G (p.Leu451=) |
single nucleotide variant |
Familial cancer of breast [RCV001399514] |
Chr16:23635193 [GRCh38]
Chr16:23646514 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3057C>T (p.Val1019=) |
single nucleotide variant |
Familial cancer of breast [RCV001495105]|Hereditary cancer-predisposing syndrome [RCV002449304] |
Chr16:23621418 [GRCh38]
Chr16:23632739 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV001379740]|Hereditary cancer-predisposing syndrome [RCV002438885] |
Chr16:23624096 [GRCh38]
Chr16:23635417 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1680G>C (p.Val560=) |
single nucleotide variant |
Familial cancer of breast [RCV001501573] |
Chr16:23634866 [GRCh38]
Chr16:23646187 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.825del (p.His276fs) |
deletion |
Familial cancer of breast [RCV001384976]|Hereditary cancer-predisposing syndrome [RCV002432070] |
Chr16:23635721 [GRCh38]
Chr16:23647042 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3191A>T (p.Tyr1064Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001525833]|not provided [RCV002307750] |
Chr16:23614014 [GRCh38]
Chr16:23625335 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1053A>C (p.Thr351=) |
single nucleotide variant |
Familial cancer of breast [RCV001452386]|Hereditary cancer-predisposing syndrome [RCV002405064] |
Chr16:23635493 [GRCh38]
Chr16:23646814 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.428del (p.Leu143fs) |
deletion |
Familial cancer of breast [RCV001388536] |
Chr16:23636118 [GRCh38]
Chr16:23647439 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.615A>C (p.Glu205Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002001630] |
Chr16:23635931 [GRCh38]
Chr16:23647252 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+9G>C |
single nucleotide variant |
not specified [RCV001527023] |
Chr16:23607855 [GRCh38]
Chr16:23619176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1203C>T (p.Gly401=) |
single nucleotide variant |
Familial cancer of breast [RCV001461824]|Hereditary cancer-predisposing syndrome [RCV002350938] |
Chr16:23635343 [GRCh38]
Chr16:23646664 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001380135]|Hereditary cancer-predisposing syndrome [RCV002447506] |
Chr16:23621417 [GRCh38]
Chr16:23632738 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2595A>G (p.Ser865=) |
single nucleotide variant |
Familial cancer of breast [RCV001496554] |
Chr16:23626389 [GRCh38]
Chr16:23637710 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001523854] |
Chr16:23637965 [GRCh38]
Chr16:23649286 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3141A>G (p.Lys1047=) |
single nucleotide variant |
Familial cancer of breast [RCV001419598]|Hereditary cancer-predisposing syndrome [RCV002322433]|not specified [RCV001806177] |
Chr16:23614064 [GRCh38]
Chr16:23625385 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2133T>G (p.Val711=) |
single nucleotide variant |
Familial cancer of breast [RCV001429920]|Hereditary cancer-predisposing syndrome [RCV004656592] |
Chr16:23630021 [GRCh38]
Chr16:23641342 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.26T>C (p.Leu9Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524097] |
Chr16:23641132 [GRCh38]
Chr16:23652453 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.24_25del (p.Leu9fs) |
deletion |
Familial cancer of breast [RCV001383962] |
Chr16:23641133..23641134 [GRCh38]
Chr16:23652454..23652455 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer) |
insertion |
Familial cancer of breast [RCV001383971] |
Chr16:23638106..23638107 [GRCh38]
Chr16:23649427..23649428 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.276T>A (p.Thr92=) |
single nucleotide variant |
Familial cancer of breast [RCV001423931] |
Chr16:23636270 [GRCh38]
Chr16:23647591 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs) |
deletion |
Familial cancer of breast [RCV001383915]|Hereditary cancer-predisposing syndrome [RCV002413914] |
Chr16:23635477..23635481 [GRCh38]
Chr16:23646798..23646802 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3175del (p.Val1059fs) |
deletion |
Familial cancer of breast [RCV001383957] |
Chr16:23614030 [GRCh38]
Chr16:23625351 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn) |
insertion |
Familial cancer of breast [RCV001384040] |
Chr16:23621391..23621392 [GRCh38]
Chr16:23632712..23632713 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3024C>G (p.Pro1008=) |
single nucleotide variant |
Familial cancer of breast [RCV001425942] |
Chr16:23621451 [GRCh38]
Chr16:23632772 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1759del (p.Ala587fs) |
deletion |
Familial cancer of breast [RCV001387209] |
Chr16:23630395 [GRCh38]
Chr16:23641716 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2970A>G (p.Glu990=) |
single nucleotide variant |
Familial cancer of breast [RCV001503960] |
Chr16:23622995 [GRCh38]
Chr16:23634316 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1134T>G (p.Pro378=) |
single nucleotide variant |
Familial cancer of breast [RCV001485326] |
Chr16:23635412 [GRCh38]
Chr16:23646733 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.25_27dup (p.Leu9dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001524303] |
Chr16:23641130..23641131 [GRCh38]
Chr16:23652451..23652452 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2926A>C (p.Arg976=) |
single nucleotide variant |
Familial cancer of breast [RCV001393711]|Hereditary cancer-predisposing syndrome [RCV002438898] |
Chr16:23623039 [GRCh38]
Chr16:23634360 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs) |
duplication |
Familial cancer of breast [RCV001383967] |
Chr16:23626340..23626341 [GRCh38]
Chr16:23637661..23637662 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.420del (p.Lys140fs) |
deletion |
Familial cancer of breast [RCV001387399]|Hereditary cancer-predisposing syndrome [RCV003584918] |
Chr16:23636126 [GRCh38]
Chr16:23647447 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs) |
deletion |
Familial cancer of breast [RCV001386047]|Hereditary cancer-predisposing syndrome [RCV004651633] |
Chr16:23635088..23635092 [GRCh38]
Chr16:23646409..23646413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3156T>C (p.Asp1052=) |
single nucleotide variant |
Familial cancer of breast [RCV001459662] |
Chr16:23614049 [GRCh38]
Chr16:23625370 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3174A>G (p.Ser1058=) |
single nucleotide variant |
Familial cancer of breast [RCV001481069] |
Chr16:23614031 [GRCh38]
Chr16:23625352 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+1del |
deletion |
Familial cancer of breast [RCV001377515] |
Chr16:23607863 [GRCh38]
Chr16:23619184 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.653A>T (p.Glu218Val) |
single nucleotide variant |
Familial cancer of breast [RCV002568067]|Hereditary cancer-predisposing syndrome [RCV001524633]|not provided [RCV002261373] |
Chr16:23635893 [GRCh38]
Chr16:23647214 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3028G>A (p.Glu1010Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001524760] |
Chr16:23621447 [GRCh38]
Chr16:23632768 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer) |
insertion |
Familial cancer of breast [RCV001386583] |
Chr16:23638121..23638122 [GRCh38]
Chr16:23649442..23649443 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1263del (p.Lys422_Val423insTer) |
deletion |
Familial cancer of breast [RCV001387611] |
Chr16:23635283 [GRCh38]
Chr16:23646604 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1284C>T (p.Val428=) |
single nucleotide variant |
Familial cancer of breast [RCV001426668] |
Chr16:23635262 [GRCh38]
Chr16:23646583 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1059_1075del (p.Lys353_Ser354insTer) |
deletion |
Familial cancer of breast [RCV001384802] |
Chr16:23635471..23635487 [GRCh38]
Chr16:23646792..23646808 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2834+7A>G |
single nucleotide variant |
Familial cancer of breast [RCV001437861] |
Chr16:23624002 [GRCh38]
Chr16:23635323 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3351-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV001385043] |
Chr16:23603670 [GRCh38]
Chr16:23614991 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2834G>A (p.Arg945Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255800] |
Chr16:23624009 [GRCh38]
Chr16:23635330 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.921del (p.Ala308fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002256997] |
Chr16:23635625 [GRCh38]
Chr16:23646946 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.-132G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258420] |
Chr16:23641289 [GRCh38]
Chr16:23652610 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3248A>G (p.Glu1083Gly) |
single nucleotide variant |
not provided [RCV001755308] |
Chr16:23607966 [GRCh38]
Chr16:23619287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2058G>C (p.Arg686Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004245979]|not provided [RCV003127146] |
Chr16:23630096 [GRCh38]
Chr16:23641417 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NG_007406.1:g.?_?ins(23632682_23625413)_(23625324_23619334) |
insertion |
Hereditary breast ovarian cancer syndrome [RCV002277716] |
|
uncertain significance |
| NM_024675.4(PALB2):c.3418del (p.Trp1140fs) |
deletion |
Familial cancer of breast [RCV002272648] |
Chr16:23603602 [GRCh38]
Chr16:23614923 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3351-7C>T |
single nucleotide variant |
Familial cancer of breast [RCV002272685] |
Chr16:23603676 [GRCh38]
Chr16:23614997 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-9C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256991] |
Chr16:23630478 [GRCh38]
Chr16:23641799 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.390_391insT (p.Arg131Ter) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002256995] |
Chr16:23636155..23636156 [GRCh38]
Chr16:23647476..23647477 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3113+1375G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258424] |
Chr16:23619987 [GRCh38]
Chr16:23631308 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2490G>A (p.Glu830=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259178] |
Chr16:23629664 [GRCh38]
Chr16:23640985 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3105T>G (p.Ile1035Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259179] |
Chr16:23621370 [GRCh38]
Chr16:23632691 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) |
insertion |
Familial cancer of breast [RCV001775205] |
Chr16:23603573..23603574 [GRCh38]
Chr16:23614894..23614895 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003316849]|Fanconi anemia complementation group N [RCV001784795] |
Chr16:23635358 [GRCh38]
Chr16:23646679 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1389T>G (p.Ile463Met) |
single nucleotide variant |
not provided [RCV003237612] |
Chr16:23635157 [GRCh38]
Chr16:23646478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2127_2128del (p.Thr710fs) |
deletion |
not specified [RCV001801112] |
Chr16:23630026..23630027 [GRCh38]
Chr16:23641347..23641348 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1300G>C (p.Asp434His) |
single nucleotide variant |
Familial cancer of breast [RCV001868738]|not provided [RCV001768286] |
Chr16:23635246 [GRCh38]
Chr16:23646567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2963A>C (p.Gln988Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003607426]|not provided [RCV001768306] |
Chr16:23623002 [GRCh38]
Chr16:23634323 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001799365]|Familial cancer of breast [RCV003475095]|Hereditary cancer-predisposing syndrome [RCV002388669] |
Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.332A>G (p.Asp111Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003607425]|not provided [RCV001774850] |
Chr16:23636214 [GRCh38]
Chr16:23647535 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2291A>G (p.Lys764Arg) |
single nucleotide variant |
not provided [RCV001776396] |
Chr16:23629863 [GRCh38]
Chr16:23641184 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2744C>T (p.Ala915Val) |
single nucleotide variant |
Familial cancer of breast [RCV002034510]|Hereditary cancer-predisposing syndrome [RCV002440870]|not provided [RCV001776421]|not specified [RCV004526147] |
Chr16:23626240 [GRCh38]
Chr16:23637561 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.328G>A (p.Gly110Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002544188]|not provided [RCV001768258] |
Chr16:23636218 [GRCh38]
Chr16:23647539 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2113T>C (p.Tyr705His) |
single nucleotide variant |
not provided [RCV001753290]|not specified [RCV002465902] |
Chr16:23630041 [GRCh38]
Chr16:23641362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2994A>G (p.Gly998=) |
single nucleotide variant |
not specified [RCV001733405] |
Chr16:23622971 [GRCh38]
Chr16:23634292 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003500685]|not specified [RCV001779474] |
Chr16:23630089 [GRCh38]
Chr16:23641410 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1442T>C (p.Leu481Pro) |
single nucleotide variant |
not provided [RCV001758963] |
Chr16:23635104 [GRCh38]
Chr16:23646425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003451919]|Hereditary cancer-predisposing syndrome [RCV004040750]|not provided [RCV003237611] |
Chr16:23629879 [GRCh38]
Chr16:23641200 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 |
copy number loss |
not provided [RCV001795549] |
Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.3327T>C (p.Cys1109=) |
single nucleotide variant |
Familial cancer of breast [RCV002074206]|Hereditary cancer-predisposing syndrome [RCV001805620] |
Chr16:23607887 [GRCh38]
Chr16:23619208 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2873A>G (p.Gln958Arg) |
single nucleotide variant |
not provided [RCV001800121] |
Chr16:23623092 [GRCh38]
Chr16:23634413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1126del (p.Ser376fs) |
deletion |
Familial cancer of breast [RCV001800247] |
Chr16:23635420 [GRCh38]
Chr16:23646741 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.776G>A (p.Ser259Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256839]|not provided [RCV001779826] |
Chr16:23635770 [GRCh38]
Chr16:23647091 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3308T>G (p.Val1103Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001885134]|Hereditary cancer-predisposing syndrome [RCV002324197]|not provided [RCV001776722] |
Chr16:23607906 [GRCh38]
Chr16:23619227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.479G>A (p.Arg160Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002300588]|not provided [RCV001776902] |
Chr16:23636067 [GRCh38]
Chr16:23647388 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.437G>A (p.Arg146Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002482298]|Hereditary cancer-predisposing syndrome [RCV003584988]|not provided [RCV001777037] |
Chr16:23636109 [GRCh38]
Chr16:23647430 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.605T>C (p.Leu202Pro) |
single nucleotide variant |
not provided [RCV001777033] |
Chr16:23635941 [GRCh38]
Chr16:23647262 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2173T>C (p.Ser725Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001868816]|not provided [RCV001776885] |
Chr16:23629981 [GRCh38]
Chr16:23641302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.349C>T (p.Pro117Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001885094]|not provided [RCV001759141] |
Chr16:23636197 [GRCh38]
Chr16:23647518 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2110C>T (p.Leu704Phe) |
single nucleotide variant |
not provided [RCV001776814] |
Chr16:23630044 [GRCh38]
Chr16:23641365 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2309C>T (p.Ala770Val) |
single nucleotide variant |
Familial cancer of breast [RCV001869555]|Hereditary cancer-predisposing syndrome [RCV001805642] |
Chr16:23629845 [GRCh38]
Chr16:23641166 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1818T>G (p.Phe606Leu) |
single nucleotide variant |
not specified [RCV001820394] |
Chr16:23630336 [GRCh38]
Chr16:23641657 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3059A>T (p.Gln1020Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001805471] |
Chr16:23621416 [GRCh38]
Chr16:23632737 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2111T>A (p.Leu704His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001805412] |
Chr16:23630043 [GRCh38]
Chr16:23641364 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001869552]|Hereditary cancer-predisposing syndrome [RCV001805610] |
Chr16:23630355 [GRCh38]
Chr16:23641676 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3367G>C (p.Val1123Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001869708]|Hereditary cancer-predisposing syndrome [RCV003163964]|not specified [RCV001819668] |
Chr16:23603653 [GRCh38]
Chr16:23614974 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1693A>G (p.Ser565Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001804323] |
Chr16:23630461 [GRCh38]
Chr16:23641782 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1032C>T (p.Asn344=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001804556] |
Chr16:23635514 [GRCh38]
Chr16:23646835 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1710G>C (p.Glu570Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001805283] |
Chr16:23630444 [GRCh38]
Chr16:23641765 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2798G>C (p.Cys933Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001805340] |
Chr16:23624045 [GRCh38]
Chr16:23635366 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1630G>A (p.Glu544Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001805635] |
Chr16:23634916 [GRCh38]
Chr16:23646237 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.901G>C (p.Asp301His) |
single nucleotide variant |
Familial cancer of breast [RCV001971215] |
Chr16:23635645 [GRCh38]
Chr16:23646966 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1375G>A (p.Asp459Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001863598] |
Chr16:23635171 [GRCh38]
Chr16:23646492 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2143G>A (p.Asp715Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001872886]|Hereditary cancer-predisposing syndrome [RCV003164220] |
Chr16:23630011 [GRCh38]
Chr16:23641332 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3022C>T (p.Pro1008Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001984333] |
Chr16:23621453 [GRCh38]
Chr16:23632774 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.444_445del (p.Lys149fs) |
deletion |
Familial cancer of breast [RCV001926705] |
Chr16:23636101..23636102 [GRCh38]
Chr16:23647422..23647423 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3292A>G (p.Lys1098Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001987648]|Hereditary cancer-predisposing syndrome [RCV004043770] |
Chr16:23607922 [GRCh38]
Chr16:23619243 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.473A>G (p.Gln158Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001971755] |
Chr16:23636073 [GRCh38]
Chr16:23647394 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3558A>G (p.Ser1186=) |
single nucleotide variant |
Familial cancer of breast [RCV001926845]|Hereditary cancer-predisposing syndrome [RCV002458822] |
Chr16:23603462 [GRCh38]
Chr16:23614783 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.98C>A (p.Ala33Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002025418] |
Chr16:23638080 [GRCh38]
Chr16:23649401 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23646173)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV004581587] |
Chr16:23646173..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2339G>T (p.Gly780Val) |
single nucleotide variant |
Familial cancer of breast [RCV001874132]|Hereditary cancer-predisposing syndrome [RCV003164063] |
Chr16:23629815 [GRCh38]
Chr16:23641136 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23619175)_(23649460_?)del |
deletion |
Familial cancer of breast [RCV001929592] |
Chr16:23619175..23649460 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2728del (p.Tyr910fs) |
deletion |
Familial cancer of breast [RCV001929766] |
Chr16:23626256 [GRCh38]
Chr16:23637577 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2586+6A>T |
single nucleotide variant |
Familial cancer of breast [RCV002025783] |
Chr16:23629198 [GRCh38]
Chr16:23640519 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.106C>A (p.Gln36Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001983448]|Hereditary cancer-predisposing syndrome [RCV002407252] |
Chr16:23638072 [GRCh38]
Chr16:23649393 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1948G>C (p.Glu650Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002040475] |
Chr16:23630206 [GRCh38]
Chr16:23641527 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.80A>G (p.Glu27Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001875053] |
Chr16:23638098 [GRCh38]
Chr16:23649419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3475del (p.Trp1159fs) |
deletion |
Familial cancer of breast [RCV001970050] |
Chr16:23603545 [GRCh38]
Chr16:23614866 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2966del (p.Val989fs) |
deletion |
Familial cancer of breast [RCV001874157] |
Chr16:23622999 [GRCh38]
Chr16:23634320 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1523C>T (p.Pro508Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002045807]|Hereditary cancer-predisposing syndrome [RCV002389034] |
Chr16:23635023 [GRCh38]
Chr16:23646344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+6T>C |
single nucleotide variant |
Familial cancer of breast [RCV001964640] |
Chr16:23613998 [GRCh38]
Chr16:23625319 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1262G>C (p.Arg421Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001929463] |
Chr16:23635284 [GRCh38]
Chr16:23646605 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3305G>T (p.Ser1102Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002005738] |
Chr16:23607909 [GRCh38]
Chr16:23619230 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2317A>T (p.Thr773Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002043240] |
Chr16:23629837 [GRCh38]
Chr16:23641158 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.787G>T (p.Glu263Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001896468] |
Chr16:23635759 [GRCh38]
Chr16:23647080 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.659G>C (p.Ser220Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001891940] |
Chr16:23635887 [GRCh38]
Chr16:23647208 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3386C>A (p.Ala1129Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002025323] |
Chr16:23603634 [GRCh38]
Chr16:23614955 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.368A>T (p.Asp123Val) |
single nucleotide variant |
Familial cancer of breast [RCV002008540] |
Chr16:23636178 [GRCh38]
Chr16:23647499 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs) |
deletion |
Familial cancer of breast [RCV001914762] |
Chr16:23607963..23607966 [GRCh38]
Chr16:23619284..23619287 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3148C>T (p.His1050Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV001988395] |
Chr16:23614057 [GRCh38]
Chr16:23625378 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.450G>T (p.Gln150His) |
single nucleotide variant |
Familial cancer of breast [RCV001894569] |
Chr16:23636096 [GRCh38]
Chr16:23647417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1287T>G (p.Ile429Met) |
single nucleotide variant |
Familial cancer of breast [RCV001970752] |
Chr16:23635259 [GRCh38]
Chr16:23646580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.986T>C (p.Leu329Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001913354] |
Chr16:23635560 [GRCh38]
Chr16:23646881 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.406A>G (p.Ser136Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001894708] |
Chr16:23636140 [GRCh38]
Chr16:23647461 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-3T>G |
single nucleotide variant |
Familial cancer of breast [RCV001895711] |
Chr16:23624097 [GRCh38]
Chr16:23635418 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3515T>G (p.Leu1172Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001872786] |
Chr16:23603505 [GRCh38]
Chr16:23614826 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.775A>G (p.Ser259Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001969699] |
Chr16:23635771 [GRCh38]
Chr16:23647092 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1491T>A (p.Asn497Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001947856] |
Chr16:23635055 [GRCh38]
Chr16:23646376 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2359dup (p.Thr787fs) |
duplication |
Familial cancer of breast [RCV002002463] |
Chr16:23629794..23629795 [GRCh38]
Chr16:23641115..23641116 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2041A>G (p.Lys681Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001909628] |
Chr16:23630113 [GRCh38]
Chr16:23641434 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2155C>G (p.Pro719Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001985722] |
Chr16:23629999 [GRCh38]
Chr16:23641320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.87C>G (p.Ser29Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002023352]|Hereditary cancer-predisposing syndrome [RCV002443055]|not specified [RCV002465914] |
Chr16:23638091 [GRCh38]
Chr16:23649412 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.136_148del (p.His46fs) |
deletion |
Familial cancer of breast [RCV001927118]|Hereditary cancer-predisposing syndrome [RCV002386659] |
Chr16:23637913..23637925 [GRCh38]
Chr16:23649234..23649246 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.498T>A (p.Thr166=) |
single nucleotide variant |
Familial cancer of breast [RCV002006465] |
Chr16:23636048 [GRCh38]
Chr16:23647369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.142A>T (p.Ile48Phe) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV001848625] |
Chr16:23637919 [GRCh38]
Chr16:23649240 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2255del (p.Gly752fs) |
deletion |
Familial cancer of breast [RCV001911029] |
Chr16:23629899 [GRCh38]
Chr16:23641220 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1314dup (p.Gly439fs) |
duplication |
Familial cancer of breast [RCV001908527] |
Chr16:23635231..23635232 [GRCh38]
Chr16:23646552..23646553 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23614634)_(23619343_?)dup |
duplication |
Familial cancer of breast [RCV001985440] |
Chr16:23614634..23619343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer) |
deletion |
Familial cancer of breast [RCV001891953]|Hereditary cancer-predisposing syndrome [RCV004656702] |
Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs) |
deletion |
Familial cancer of breast [RCV001911872] |
Chr16:23635481..23635490 [GRCh38]
Chr16:23646802..23646811 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2756T>C (p.Val919Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002003455] |
Chr16:23624087 [GRCh38]
Chr16:23635408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002044551] |
Chr16:23638094 [GRCh38]
Chr16:23649415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1523C>A (p.Pro508His) |
single nucleotide variant |
Familial cancer of breast [RCV001892277] |
Chr16:23635023 [GRCh38]
Chr16:23646344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.652G>T (p.Glu218Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001872563] |
Chr16:23635894 [GRCh38]
Chr16:23647215 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001895058] |
Chr16:23630187 [GRCh38]
Chr16:23641508 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001970218]|Hereditary cancer-predisposing syndrome [RCV002407185] |
Chr16:23630350 [GRCh38]
Chr16:23641671 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2036del (p.Pro679fs) |
deletion |
Familial cancer of breast [RCV001912775] |
Chr16:23630118 [GRCh38]
Chr16:23641439 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1751A>G (p.Asp584Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002040616]|Hereditary cancer-predisposing syndrome [RCV002407293]|not provided [RCV002290836] |
Chr16:23630403 [GRCh38]
Chr16:23641724 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs) |
microsatellite |
Familial cancer of breast [RCV002002389]|Hereditary cancer-predisposing syndrome [RCV002441103] |
Chr16:23624054..23624055 [GRCh38]
Chr16:23635375..23635376 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3305_3306insACGCTCAG (p.Ser1102fs) |
insertion |
Familial cancer of breast [RCV001946732] |
Chr16:23607908..23607909 [GRCh38]
Chr16:23619229..23619230 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.209C>G (p.Ser70Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002042347] |
Chr16:23637852 [GRCh38]
Chr16:23649173 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2761C>A (p.Gln921Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002042360] |
Chr16:23624082 [GRCh38]
Chr16:23635403 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter) |
duplication |
Familial cancer of breast [RCV001908132]|Hereditary cancer-predisposing syndrome [RCV002386638] |
Chr16:23635558..23635559 [GRCh38]
Chr16:23646879..23646880 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1844C>T (p.Pro615Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001910548] |
Chr16:23630310 [GRCh38]
Chr16:23641631 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1092C>T (p.Gly364=) |
single nucleotide variant |
Familial cancer of breast [RCV002044365]|Hereditary cancer-predisposing syndrome [RCV002449454] |
Chr16:23635454 [GRCh38]
Chr16:23646775 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs) |
insertion |
Familial cancer of breast [RCV002002329]|Hereditary cancer-predisposing syndrome [RCV002423126] |
Chr16:23630163..23630164 [GRCh38]
Chr16:23641484..23641485 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2350A>C (p.Lys784Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001910448] |
Chr16:23629804 [GRCh38]
Chr16:23641125 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2666C>T (p.Thr889Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002022543] |
Chr16:23626318 [GRCh38]
Chr16:23637639 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2957A>C (p.Asp986Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002005167]|Hereditary cancer-predisposing syndrome [RCV003585176] |
Chr16:23623008 [GRCh38]
Chr16:23634329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1769C>G (p.Ala590Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001926780]|Hereditary cancer-predisposing syndrome [RCV003585158] |
Chr16:23630385 [GRCh38]
Chr16:23641706 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2686del (p.Ser896fs) |
deletion |
Familial cancer of breast [RCV002007372] |
Chr16:23626298 [GRCh38]
Chr16:23637619 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001970020]|Fanconi anemia complementation group N [RCV003130638]|Hereditary cancer-predisposing syndrome [RCV004044375] |
Chr16:23629804 [GRCh38]
Chr16:23641125 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.665T>A (p.Leu222Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001946504] |
Chr16:23635881 [GRCh38]
Chr16:23647202 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs) |
deletion |
Familial cancer of breast [RCV001913540] |
Chr16:23635462..23635468 [GRCh38]
Chr16:23646783..23646789 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.572C>T (p.Pro191Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001890674] |
Chr16:23635974 [GRCh38]
Chr16:23647295 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3454C>A (p.Pro1152Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001968596] |
Chr16:23603566 [GRCh38]
Chr16:23614887 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2789A>C (p.Asn930Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002039566] |
Chr16:23624054 [GRCh38]
Chr16:23635375 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2800G>C (p.Val934Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001890936] |
Chr16:23624043 [GRCh38]
Chr16:23635364 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val) |
single nucleotide variant |
Familial cancer of breast [RCV001843965]|Hereditary cancer-predisposing syndrome [RCV003584992] |
Chr16:23621443 [GRCh38]
Chr16:23632764 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1813T>C (p.Ser605Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002020929] |
Chr16:23630341 [GRCh38]
Chr16:23641662 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.866T>G (p.Leu289Trp) |
single nucleotide variant |
Familial cancer of breast [RCV002005008] |
Chr16:23635680 [GRCh38]
Chr16:23647001 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1790T>C (p.Met597Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001946398]|Hereditary cancer-predisposing syndrome [RCV002397965] |
Chr16:23630364 [GRCh38]
Chr16:23641685 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1082C>T (p.Thr361Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002003556]|Hereditary cancer-predisposing syndrome [RCV002425382] |
Chr16:23635464 [GRCh38]
Chr16:23646785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3249_3258del (p.Ser1084fs) |
deletion |
Familial cancer of breast [RCV001946989] |
Chr16:23607956..23607965 [GRCh38]
Chr16:23619277..23619286 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2801T>G (p.Val934Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001948544] |
Chr16:23624042 [GRCh38]
Chr16:23635363 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.248A>C (p.His83Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002023640] |
Chr16:23636298 [GRCh38]
Chr16:23647619 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1556C>T (p.Ala519Val) |
single nucleotide variant |
Familial cancer of breast [RCV001893006]|not provided [RCV003154214] |
Chr16:23634990 [GRCh38]
Chr16:23646311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1861C>T (p.Pro621Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002041332]|Hereditary cancer-predisposing syndrome [RCV002406911]|not provided [RCV003234121] |
Chr16:23630293 [GRCh38]
Chr16:23641614 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3521G>T (p.Gly1174Val) |
single nucleotide variant |
Familial cancer of breast [RCV001911932] |
Chr16:23603499 [GRCh38]
Chr16:23614820 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1534T>A (p.Tyr512Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001984675]|Hereditary cancer-predisposing syndrome [RCV004042878] |
Chr16:23635012 [GRCh38]
Chr16:23646333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2452T>A (p.Phe818Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001964150] |
Chr16:23629702 [GRCh38]
Chr16:23641023 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1847A>T (p.Asp616Val) |
single nucleotide variant |
Familial cancer of breast [RCV001893918]|Hereditary cancer-predisposing syndrome [RCV002407028] |
Chr16:23630307 [GRCh38]
Chr16:23641628 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1756G>T (p.Asp586Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV002021171] |
Chr16:23630398 [GRCh38]
Chr16:23641719 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1750G>A (p.Asp584Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001908514]|Hereditary cancer-predisposing syndrome [RCV002397849] |
Chr16:23630404 [GRCh38]
Chr16:23641725 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1601C>G (p.Ser534Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001967702] |
Chr16:23634945 [GRCh38]
Chr16:23646266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2909T>C (p.Leu970Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002003271]|Hereditary cancer-predisposing syndrome [RCV002441156] |
Chr16:23623056 [GRCh38]
Chr16:23634377 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001941952] |
Chr16:23638094 [GRCh38]
Chr16:23649415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.16G>T (p.Gly6Trp) |
single nucleotide variant |
Familial cancer of breast [RCV002012898] |
Chr16:23641142 [GRCh38]
Chr16:23652463 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2702T>C (p.Leu901Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002037031] |
Chr16:23626282 [GRCh38]
Chr16:23637603 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23635320)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV001941799] |
Chr16:23635320..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1575del (p.His526fs) |
deletion |
Familial cancer of breast [RCV001924382] |
Chr16:23634971 [GRCh38]
Chr16:23646292 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2600C>G (p.Ser867Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001979910] |
Chr16:23626384 [GRCh38]
Chr16:23637705 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer) |
microsatellite |
Familial cancer of breast [RCV001932475]|Hereditary breast ovarian cancer syndrome [RCV004690152]|Hereditary cancer-predisposing syndrome [RCV002334766] |
Chr16:23603555..23603556 [GRCh38]
Chr16:23614876..23614877 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs) |
deletion |
Familial cancer of breast [RCV002037686]|Hereditary cancer-predisposing syndrome [RCV004651866] |
Chr16:23635403..23635404 [GRCh38]
Chr16:23646724..23646725 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.758T>G (p.Leu253Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001944518]|Hereditary cancer-predisposing syndrome [RCV004651758] |
Chr16:23635788 [GRCh38]
Chr16:23647109 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.734del (p.Ala245fs) |
deletion |
Familial cancer of breast [RCV001924568] |
Chr16:23635812 [GRCh38]
Chr16:23647133 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2771del (p.Pro924fs) |
deletion |
Familial cancer of breast [RCV001936842]|Hereditary breast ovarian cancer syndrome [RCV003155979] |
Chr16:23624072 [GRCh38]
Chr16:23635393 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs) |
duplication |
Familial cancer of breast [RCV001941324]|Hereditary cancer-predisposing syndrome [RCV002397981] |
Chr16:23630417..23630418 [GRCh38]
Chr16:23641738..23641739 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.326del (p.Pro109fs) |
deletion |
Familial cancer of breast [RCV001941893]|Hereditary cancer-predisposing syndrome [RCV002442946] |
Chr16:23636220 [GRCh38]
Chr16:23647541 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.839A>G (p.Asn280Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001888184]|Hereditary cancer-predisposing syndrome [RCV002440962] |
Chr16:23635707 [GRCh38]
Chr16:23647028 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1798T>G (p.Leu600Val) |
single nucleotide variant |
Familial cancer of breast [RCV001999645] |
Chr16:23630356 [GRCh38]
Chr16:23641677 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002047098]|Hereditary cancer-predisposing syndrome [RCV002324229] |
Chr16:23621374 [GRCh38]
Chr16:23632695 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2767G>C (p.Val923Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001941223] |
Chr16:23624076 [GRCh38]
Chr16:23635397 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG (p.Cys653fs) |
insertion |
Familial cancer of breast [RCV001887309] |
Chr16:23630195..23630196 [GRCh38]
Chr16:23641516..23641517 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.920A>C (p.Lys307Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002000446]|Hereditary cancer-predisposing syndrome [RCV002370651] |
Chr16:23635626 [GRCh38]
Chr16:23646947 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1460T>A (p.Val487Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002038189] |
Chr16:23635086 [GRCh38]
Chr16:23646407 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.652G>A (p.Glu218Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001942712] |
Chr16:23635894 [GRCh38]
Chr16:23647215 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3206T>C (p.Leu1069Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001867564] |
Chr16:23608008 [GRCh38]
Chr16:23619329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1452A>T (p.Leu484Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001886048] |
Chr16:23635094 [GRCh38]
Chr16:23646415 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.809_823del (p.Ser270_Thr274del) |
deletion |
Familial cancer of breast [RCV002000915] |
Chr16:23635723..23635737 [GRCh38]
Chr16:23647044..23647058 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2870A>G (p.Lys957Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001940989] |
Chr16:23623095 [GRCh38]
Chr16:23634416 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1969G>C (p.Glu657Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001876652] |
Chr16:23630185 [GRCh38]
Chr16:23641506 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.890C>T (p.Thr297Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001937362] |
Chr16:23635656 [GRCh38]
Chr16:23646977 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs) |
deletion |
Familial cancer of breast [RCV001942018] |
Chr16:23603516..23603519 [GRCh38]
Chr16:23614837..23614840 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2491C>G (p.Leu831Val) |
single nucleotide variant |
Familial cancer of breast [RCV001925198]|Hereditary cancer-predisposing syndrome [RCV002425213] |
Chr16:23629663 [GRCh38]
Chr16:23640984 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2800_2801del (p.Val934fs) |
microsatellite |
Familial cancer of breast [RCV001999924] |
Chr16:23624042..23624043 [GRCh38]
Chr16:23635363..23635364 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1534T>C (p.Tyr512His) |
single nucleotide variant |
Familial cancer of breast [RCV001881121] |
Chr16:23635012 [GRCh38]
Chr16:23646333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2004G>T (p.Met668Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001979338] |
Chr16:23630150 [GRCh38]
Chr16:23641471 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.431C>T (p.Pro144Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001886989] |
Chr16:23636115 [GRCh38]
Chr16:23647436 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.442A>C (p.Lys148Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001943457] |
Chr16:23636104 [GRCh38]
Chr16:23647425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.218A>G (p.Lys73Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001915978] |
Chr16:23636328 [GRCh38]
Chr16:23647649 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2605T>C (p.Ser869Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001919962] |
Chr16:23626379 [GRCh38]
Chr16:23637700 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.192_193del (p.Pro65fs) |
deletion |
Familial cancer of breast [RCV001942535] |
Chr16:23637868..23637869 [GRCh38]
Chr16:23649189..23649190 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1911del (p.Phe638fs) |
deletion |
Familial cancer of breast [RCV001887912] |
Chr16:23630243 [GRCh38]
Chr16:23641564 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1177A>C (p.Lys393Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001942549]|not provided [RCV002300605] |
Chr16:23635369 [GRCh38]
Chr16:23646690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.659G>A (p.Ser220Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001888328]|Hereditary cancer-predisposing syndrome [RCV002370425] |
Chr16:23635887 [GRCh38]
Chr16:23647208 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.57G>C (p.Glu19Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001982569]|Hereditary cancer-predisposing syndrome [RCV002352629] |
Chr16:23638121 [GRCh38]
Chr16:23649442 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001941626] |
Chr16:23614025 [GRCh38]
Chr16:23625346 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001941648] |
Chr16:23635194 [GRCh38]
Chr16:23646515 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs) |
deletion |
Familial cancer of breast [RCV001942165]|Hereditary cancer-predisposing syndrome [RCV002423136] |
Chr16:23630177..23630178 [GRCh38]
Chr16:23641498..23641499 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3241G>A (p.Glu1081Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001962284]|Hereditary cancer-predisposing syndrome [RCV003303247] |
Chr16:23607973 [GRCh38]
Chr16:23619294 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.451C>A (p.Gln151Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002018878] |
Chr16:23636095 [GRCh38]
Chr16:23647416 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3166C>G (p.Gln1056Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001961711]|Hereditary cancer-predisposing syndrome [RCV002324425] |
Chr16:23614039 [GRCh38]
Chr16:23625360 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.535C>T (p.Gln179Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001963210] |
Chr16:23636011 [GRCh38]
Chr16:23647332 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2931A>G (p.Leu977=) |
single nucleotide variant |
Familial cancer of breast [RCV001943025]|Hereditary cancer-predisposing syndrome [RCV002441026] |
Chr16:23623034 [GRCh38]
Chr16:23634355 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2491C>A (p.Leu831Met) |
single nucleotide variant |
Familial cancer of breast [RCV001907053] |
Chr16:23629663 [GRCh38]
Chr16:23640984 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2519A>G (p.Glu840Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002036968] |
Chr16:23629271 [GRCh38]
Chr16:23640592 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2497_2502del (p.Lys833_His834del) |
deletion |
Familial cancer of breast [RCV002014182]|Hereditary cancer-predisposing syndrome [RCV002425415] |
Chr16:23629652..23629657 [GRCh38]
Chr16:23640973..23640978 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2021A>C (p.Asp674Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002028142]|Hereditary cancer-predisposing syndrome [RCV002423193] |
Chr16:23630133 [GRCh38]
Chr16:23641454 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs) |
deletion |
Familial cancer of breast [RCV001936324] |
Chr16:23603480..23603492 [GRCh38]
Chr16:23614801..23614813 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1785T>A (p.Asp595Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001989659] |
Chr16:23630369 [GRCh38]
Chr16:23641690 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3228T>G (p.His1076Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002026805] |
Chr16:23607986 [GRCh38]
Chr16:23619307 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2465A>G (p.Gln822Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001952979]|Hereditary cancer-predisposing syndrome [RCV002425300] |
Chr16:23629689 [GRCh38]
Chr16:23641010 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1160CTC[1] (p.Pro388del) |
microsatellite |
Familial cancer of breast [RCV001955611]|not provided [RCV003223742] |
Chr16:23635381..23635383 [GRCh38]
Chr16:23646702..23646704 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3430C>A (p.Leu1144Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001870572] |
Chr16:23603590 [GRCh38]
Chr16:23614911 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3127G>A (p.Gly1043Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002050624] |
Chr16:23614078 [GRCh38]
Chr16:23625399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001992625] |
Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001919455]|Hereditary cancer-predisposing syndrome [RCV004656741] |
Chr16:23630008 [GRCh38]
Chr16:23641329 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs) |
microsatellite |
Familial cancer of breast [RCV002051491]|Hereditary cancer-predisposing syndrome [RCV002397779] |
Chr16:23634893..23634894 [GRCh38]
Chr16:23646214..23646215 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.842T>G (p.Ile281Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002032115] |
Chr16:23635704 [GRCh38]
Chr16:23647025 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2222del (p.Gly741fs) |
deletion |
Familial cancer of breast [RCV001955718] |
Chr16:23629932 [GRCh38]
Chr16:23641253 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.440G>A (p.Arg147Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002010593] |
Chr16:23636106 [GRCh38]
Chr16:23647427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3159T>G (p.Asp1053Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002031581] |
Chr16:23614046 [GRCh38]
Chr16:23625367 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.799C>T (p.Pro267Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002049501]|Hereditary cancer-predisposing syndrome [RCV003164048] |
Chr16:23635747 [GRCh38]
Chr16:23647068 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3265G>T (p.Val1089Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001992801] |
Chr16:23607949 [GRCh38]
Chr16:23619270 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2687C>T (p.Ser896Phe) |
single nucleotide variant |
Familial cancer of breast [RCV001898273]|Hereditary cancer-predisposing syndrome [RCV003585145] |
Chr16:23626297 [GRCh38]
Chr16:23637618 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1199A>G (p.Glu400Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002050916] |
Chr16:23635347 [GRCh38]
Chr16:23646668 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2009A>G (p.Asp670Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001931419]|Hereditary cancer-predisposing syndrome [RCV002423083] |
Chr16:23630145 [GRCh38]
Chr16:23641466 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1171G>T (p.Ala391Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002029915]|Hereditary cancer-predisposing syndrome [RCV004038738] |
Chr16:23635375 [GRCh38]
Chr16:23646696 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.901_902del (p.Thr300_Asp301insTer) |
deletion |
Familial cancer of breast [RCV001950906] |
Chr16:23635644..23635645 [GRCh38]
Chr16:23646965..23646966 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2530C>T (p.Leu844Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002046039] |
Chr16:23629260 [GRCh38]
Chr16:23640581 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1082C>A (p.Thr361Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001934393] |
Chr16:23635464 [GRCh38]
Chr16:23646785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1244G>C (p.Ser415Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002015194]|Hereditary cancer-predisposing syndrome [RCV002389007] |
Chr16:23635302 [GRCh38]
Chr16:23646623 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.214C>T (p.Pro72Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001978792] |
Chr16:23636332 [GRCh38]
Chr16:23647653 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1386_1390dup (p.Arg464fs) |
duplication |
Familial cancer of breast [RCV001953485] |
Chr16:23635155..23635156 [GRCh38]
Chr16:23646476..23646477 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1040A>G (p.Glu347Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001864756]|Hereditary cancer-predisposing syndrome [RCV002388722] |
Chr16:23635506 [GRCh38]
Chr16:23646827 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2924G>T (p.Arg975Met) |
single nucleotide variant |
Familial cancer of breast [RCV001973306]|Hereditary cancer-predisposing syndrome [RCV003289321] |
Chr16:23623041 [GRCh38]
Chr16:23634362 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1758del (p.Asp586fs) |
deletion |
Familial cancer of breast [RCV001953616] |
Chr16:23630396 [GRCh38]
Chr16:23641717 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3314T>C (p.Val1105Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002031216] |
Chr16:23607900 [GRCh38]
Chr16:23619221 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1883A>T (p.Lys628Met) |
single nucleotide variant |
Familial cancer of breast [RCV002026160]|Hereditary cancer-predisposing syndrome [RCV002407301] |
Chr16:23630271 [GRCh38]
Chr16:23641592 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2867A>G (p.Glu956Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002047400]|Hereditary cancer-predisposing syndrome [RCV004651738] |
Chr16:23623098 [GRCh38]
Chr16:23634419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter) |
inversion |
Familial cancer of breast [RCV001953698]|Hereditary cancer-predisposing syndrome [RCV002386820] |
Chr16:23635167..23635168 [GRCh38]
Chr16:23646488..23646489 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3081del (p.Gly1028fs) |
deletion |
Familial cancer of breast [RCV001931791] |
Chr16:23621394 [GRCh38]
Chr16:23632715 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3080T>C (p.Leu1027Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001933083] |
Chr16:23621395 [GRCh38]
Chr16:23632716 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3050C>G (p.Ala1017Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002015924] |
Chr16:23621425 [GRCh38]
Chr16:23632746 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3557C>G (p.Ser1186Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001865137] |
Chr16:23603463 [GRCh38]
Chr16:23614784 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1186T>C (p.Cys396Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002026381] |
Chr16:23635360 [GRCh38]
Chr16:23646681 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3385G>A (p.Ala1129Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002047606] |
Chr16:23603635 [GRCh38]
Chr16:23614956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3334C>T (p.Pro1112Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001919980]|Hereditary cancer-predisposing syndrome [RCV004041592] |
Chr16:23607880 [GRCh38]
Chr16:23619201 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1344T>G (p.Ser448Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001932088]|Hereditary cancer-predisposing syndrome [RCV003365477] |
Chr16:23635202 [GRCh38]
Chr16:23646523 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3224G>A (p.Ser1075Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001917582] |
Chr16:23607990 [GRCh38]
Chr16:23619311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.433A>G (p.Ser145Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002030553]|Hereditary cancer-predisposing syndrome [RCV002331572] |
Chr16:23636113 [GRCh38]
Chr16:23647434 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2780A>C (p.Asp927Ala) |
single nucleotide variant |
Familial cancer of breast [RCV001882071] |
Chr16:23624063 [GRCh38]
Chr16:23635384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.509G>T (p.Arg170Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001922297] |
Chr16:23636037 [GRCh38]
Chr16:23647358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1426del (p.Arg476fs) |
deletion |
Familial cancer of breast [RCV001922912]|Hereditary cancer-predisposing syndrome [RCV002388825] |
Chr16:23635120 [GRCh38]
Chr16:23646441 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.452_453insTC (p.Gln151fs) |
insertion |
Familial cancer of breast [RCV001898936] |
Chr16:23636093..23636094 [GRCh38]
Chr16:23647414..23647415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3498_3502del (p.Thr1167fs) |
deletion |
Familial cancer of breast [RCV001972473] |
Chr16:23603518..23603522 [GRCh38]
Chr16:23614839..23614843 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.879del (p.Lys295_Met296insTer) |
deletion |
Familial cancer of breast [RCV001959043] |
Chr16:23635667 [GRCh38]
Chr16:23646988 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.450G>C (p.Gln150His) |
single nucleotide variant |
Familial cancer of breast [RCV001980533] |
Chr16:23636096 [GRCh38]
Chr16:23647417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.758_759insG (p.Ser254fs) |
insertion |
Familial cancer of breast [RCV002035454] |
Chr16:23635787..23635788 [GRCh38]
Chr16:23647108..23647109 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3052del (p.Glu1018fs) |
deletion |
Familial cancer of breast [RCV002035460] |
Chr16:23621423 [GRCh38]
Chr16:23632744 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs) |
deletion |
Familial cancer of breast [RCV001878669] |
Chr16:23635430..23635440 [GRCh38]
Chr16:23646751..23646761 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV002015186] |
Chr16:23635359 [GRCh38]
Chr16:23646680 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.248A>G (p.His83Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001959677] |
Chr16:23636298 [GRCh38]
Chr16:23647619 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.719C>G (p.Pro240Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001906292] |
Chr16:23635827 [GRCh38]
Chr16:23647148 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.464T>C (p.Phe155Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002036064] |
Chr16:23636082 [GRCh38]
Chr16:23647403 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.438_450del (p.Arg146fs) |
deletion |
Familial cancer of breast [RCV001900492] |
Chr16:23636096..23636108 [GRCh38]
Chr16:23647417..23647429 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3443C>T (p.Thr1148Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001881235]|Hereditary cancer-predisposing syndrome [RCV002458707] |
Chr16:23603577 [GRCh38]
Chr16:23614898 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2189T>C (p.Ile730Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002031757]|not provided [RCV004591706] |
Chr16:23629965 [GRCh38]
Chr16:23641286 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3377A>G (p.His1126Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001979446] |
Chr16:23603643 [GRCh38]
Chr16:23614964 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2299G>A (p.Val767Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002029513] |
Chr16:23629855 [GRCh38]
Chr16:23641176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3263C>A (p.Pro1088His) |
single nucleotide variant |
Familial cancer of breast [RCV001905181] |
Chr16:23607951 [GRCh38]
Chr16:23619272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1147C>A (p.Leu383Met) |
single nucleotide variant |
Familial cancer of breast [RCV002017672] |
Chr16:23635399 [GRCh38]
Chr16:23646720 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2728T>C (p.Tyr910His) |
single nucleotide variant |
Familial cancer of breast [RCV001976774]|Hereditary cancer-predisposing syndrome [RCV003585178] |
Chr16:23626256 [GRCh38]
Chr16:23637577 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1807del (p.Leu603fs) |
deletion |
Familial cancer of breast [RCV001997081] |
Chr16:23630347 [GRCh38]
Chr16:23641668 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1898A>T (p.Lys633Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001884493] |
Chr16:23630256 [GRCh38]
Chr16:23641577 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2013A>C (p.Leu671Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002035021] |
Chr16:23630141 [GRCh38]
Chr16:23641462 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1597del (p.Thr533fs) |
deletion |
Familial cancer of breast [RCV001994806] |
Chr16:23634949 [GRCh38]
Chr16:23646270 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2983G>A (p.Ala995Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002031878] |
Chr16:23622982 [GRCh38]
Chr16:23634303 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2363C>T (p.Thr788Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002018929] |
Chr16:23629791 [GRCh38]
Chr16:23641112 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001885824]|Hereditary cancer-predisposing syndrome [RCV004656699] |
Chr16:23634871 [GRCh38]
Chr16:23646192 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1280C>T (p.Ala427Val) |
single nucleotide variant |
Familial cancer of breast [RCV001954604]|Hereditary cancer-predisposing syndrome [RCV002386735] |
Chr16:23635266 [GRCh38]
Chr16:23646587 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1465T>C (p.Ser489Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002048352] |
Chr16:23635081 [GRCh38]
Chr16:23646402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1308G>C (p.Lys436Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001904006]|Hereditary cancer-predisposing syndrome [RCV002386609] |
Chr16:23635238 [GRCh38]
Chr16:23646559 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.390del (p.His130fs) |
deletion |
Familial cancer of breast [RCV001958637] |
Chr16:23636156 [GRCh38]
Chr16:23647477 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2553C>A (p.Asn851Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001959853] |
Chr16:23629237 [GRCh38]
Chr16:23640558 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1276G>A (p.Glu426Lys) |
single nucleotide variant |
Familial cancer of breast [RCV001886268] |
Chr16:23635270 [GRCh38]
Chr16:23646591 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3395T>C (p.Leu1132Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001974389]|Hereditary cancer-predisposing syndrome [RCV003170329] |
Chr16:23603625 [GRCh38]
Chr16:23614946 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3475T>G (p.Trp1159Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002035111] |
Chr16:23603545 [GRCh38]
Chr16:23614866 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1370A>G (p.Glu457Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002013462]|Hereditary cancer-predisposing syndrome [RCV002386898] |
Chr16:23635176 [GRCh38]
Chr16:23646497 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3310G>T (p.Gly1104Cys) |
single nucleotide variant |
Familial cancer of breast [RCV002031285] |
Chr16:23607904 [GRCh38]
Chr16:23619225 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.145A>G (p.Lys49Glu) |
single nucleotide variant |
Familial cancer of breast [RCV001925878] |
Chr16:23637916 [GRCh38]
Chr16:23649237 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2148_2150dup (p.Asp717dup) |
duplication |
Familial cancer of breast [RCV001903180] |
Chr16:23630003..23630004 [GRCh38]
Chr16:23641324..23641325 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2215C>T (p.Pro739Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002035200]|Hereditary cancer-predisposing syndrome [RCV002256847] |
Chr16:23629939 [GRCh38]
Chr16:23641260 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001960567]|Hereditary cancer-predisposing syndrome [RCV004044362] |
Chr16:23629771 [GRCh38]
Chr16:23641092 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3481T>G (p.Phe1161Val) |
single nucleotide variant |
Familial cancer of breast [RCV001933053]|Hereditary cancer-predisposing syndrome [RCV002458791] |
Chr16:23603539 [GRCh38]
Chr16:23614860 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.206A>G (p.His69Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002009647]|Hereditary cancer-predisposing syndrome [RCV002423246] |
Chr16:23637855 [GRCh38]
Chr16:23649176 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1051_1052insT (p.Thr351fs) |
insertion |
Familial cancer of breast [RCV001935654] |
Chr16:23635494..23635495 [GRCh38]
Chr16:23646815..23646816 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3029A>G (p.Glu1010Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002019685] |
Chr16:23621446 [GRCh38]
Chr16:23632767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2477A>G (p.Asn826Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001897218]|Hereditary cancer-predisposing syndrome [RCV003585002] |
Chr16:23629677 [GRCh38]
Chr16:23640998 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1179dup (p.His394fs) |
duplication |
Familial cancer of breast [RCV001951083]|Hereditary cancer-predisposing syndrome [RCV002334971] |
Chr16:23635366..23635367 [GRCh38]
Chr16:23646687..23646688 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2276A>T (p.Gln759Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001974763] |
Chr16:23629878 [GRCh38]
Chr16:23641199 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.86_108+12dup |
duplication |
Familial cancer of breast [RCV002051414]|Hereditary cancer-predisposing syndrome [RCV003164042]|Pancreatic cancer, susceptibility to, 3 [RCV002290776] |
Chr16:23638057..23638058 [GRCh38]
Chr16:23649378..23649379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-1123C>G |
single nucleotide variant |
Familial cancer of breast [RCV001995273] |
Chr16:23639252 [GRCh38]
Chr16:23650573 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.3358G>C (p.Glu1120Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001904965] |
Chr16:23603662 [GRCh38]
Chr16:23614983 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.658A>G (p.Ser220Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001906171]|Hereditary cancer-predisposing syndrome [RCV002256863] |
Chr16:23635888 [GRCh38]
Chr16:23647209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.172T>G (p.Leu58Val) |
single nucleotide variant |
Familial cancer of breast [RCV001961283] |
Chr16:23637889 [GRCh38]
Chr16:23649210 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3108_3112del (p.Ile1037fs) |
deletion |
Familial cancer of breast [RCV001974943] |
Chr16:23621363..23621367 [GRCh38]
Chr16:23632684..23632688 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1382G>A (p.Ser461Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001884287] |
Chr16:23635164 [GRCh38]
Chr16:23646485 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23464127)_(23635435_?)del |
deletion |
not provided [RCV001951393] |
Chr16:23464127..23635435 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3385G>C (p.Ala1129Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001979330] |
Chr16:23603635 [GRCh38]
Chr16:23614956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2609T>G (p.Val870Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002027890] |
Chr16:23626375 [GRCh38]
Chr16:23637696 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3066G>T (p.Met1022Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001991563] |
Chr16:23621409 [GRCh38]
Chr16:23632730 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1903G>T (p.Val635Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001882179] |
Chr16:23630251 [GRCh38]
Chr16:23641572 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2545A>G (p.Ser849Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001917365] |
Chr16:23629245 [GRCh38]
Chr16:23640566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.839dup (p.Asn280fs) |
duplication |
Familial cancer of breast [RCV001993359] |
Chr16:23635706..23635707 [GRCh38]
Chr16:23647027..23647028 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.404C>G (p.Pro135Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001883689]|Hereditary cancer-predisposing syndrome [RCV002324272] |
Chr16:23636142 [GRCh38]
Chr16:23647463 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.322A>C (p.Asn108His) |
single nucleotide variant |
Familial cancer of breast [RCV001923819] |
Chr16:23636224 [GRCh38]
Chr16:23647545 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23619175)_(23625422_?)dup |
duplication |
Familial cancer of breast [RCV001979823] |
Chr16:23619175..23625422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23652421)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV001958924] |
Chr16:23652421..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
Familial cancer of breast [RCV001905266] |
Chr16:23635332 [GRCh38]
Chr16:23646653 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3215T>C (p.Ile1072Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001905330] |
Chr16:23607999 [GRCh38]
Chr16:23619320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.394G>A (p.Val132Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001994298]|Hereditary cancer-predisposing syndrome [RCV003365621] |
Chr16:23636152 [GRCh38]
Chr16:23647473 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3418T>C (p.Trp1140Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001957403]|not specified [RCV004690180] |
Chr16:23603602 [GRCh38]
Chr16:23614923 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2983G>T (p.Ala995Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002017091]|Hereditary cancer-predisposing syndrome [RCV003355775] |
Chr16:23622982 [GRCh38]
Chr16:23634303 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3019A>G (p.Met1007Val) |
single nucleotide variant |
Familial cancer of breast [RCV001940467] |
Chr16:23621456 [GRCh38]
Chr16:23632777 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3246T>G (p.Ser1082Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001904743] |
Chr16:23607968 [GRCh38]
Chr16:23619289 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2119C>T (p.Pro707Ser) |
single nucleotide variant |
Familial cancer of breast [RCV001979577]|Hereditary cancer-predisposing syndrome [RCV002423159] |
Chr16:23630035 [GRCh38]
Chr16:23641356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2876_2877dup (p.Leu960fs) |
duplication |
Familial cancer of breast [RCV002035391] |
Chr16:23623087..23623088 [GRCh38]
Chr16:23634408..23634409 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.257C>G (p.Thr86Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002018542] |
Chr16:23636289 [GRCh38]
Chr16:23647610 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.30C>G (p.Ser10Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002019440]|Hereditary cancer-predisposing syndrome [RCV003355751] |
Chr16:23641128 [GRCh38]
Chr16:23652449 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1970A>G (p.Glu657Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001884206] |
Chr16:23630184 [GRCh38]
Chr16:23641505 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2785T>C (p.Tyr929His) |
single nucleotide variant |
Familial cancer of breast [RCV001906473]|Hereditary cancer-predisposing syndrome [RCV002441003] |
Chr16:23624058 [GRCh38]
Chr16:23635379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1408del (p.Thr470fs) |
deletion |
Familial cancer of breast [RCV001939400] |
Chr16:23635138 [GRCh38]
Chr16:23646459 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.200T>C (p.Leu67Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001959676] |
Chr16:23637861 [GRCh38]
Chr16:23649182 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+13C>A |
single nucleotide variant |
Familial cancer of breast [RCV002018420] |
Chr16:23641097 [GRCh38]
Chr16:23652418 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3532_3537del (p.Gly1178_Asn1179del) |
deletion |
Familial cancer of breast [RCV002035868] |
Chr16:23603483..23603488 [GRCh38]
Chr16:23614804..23614809 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2026dup (p.Ile676fs) |
duplication |
Familial cancer of breast [RCV001956337] |
Chr16:23630127..23630128 [GRCh38]
Chr16:23641448..23641449 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1685G>A (p.Gly562Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002018995] |
Chr16:23630469 [GRCh38]
Chr16:23641790 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2788A>G (p.Asn930Asp) |
single nucleotide variant |
Familial cancer of breast [RCV001988975] |
Chr16:23624055 [GRCh38]
Chr16:23635376 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2164_2165delinsAT (p.Asp722Ile) |
indel |
Familial cancer of breast [RCV001900718] |
Chr16:23629989..23629990 [GRCh38]
Chr16:23641310..23641311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1170del (p.Ala391fs) |
deletion |
Familial cancer of breast [RCV002051379] |
Chr16:23635376 [GRCh38]
Chr16:23646697 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.816_825dup (p.His276fs) |
duplication |
Familial cancer of breast [RCV001950895] |
Chr16:23635720..23635721 [GRCh38]
Chr16:23647041..23647042 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1775T>G (p.Phe592Cys) |
single nucleotide variant |
Familial cancer of breast [RCV001881062]|Hereditary cancer-predisposing syndrome [RCV002397827] |
Chr16:23630379 [GRCh38]
Chr16:23641700 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.821C>T (p.Thr274Ile) |
single nucleotide variant |
Familial cancer of breast [RCV001931483] |
Chr16:23635725 [GRCh38]
Chr16:23647046 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.628C>A (p.Pro210Thr) |
single nucleotide variant |
Familial cancer of breast [RCV001899993]|Hereditary cancer-predisposing syndrome [RCV002361111] |
Chr16:23635918 [GRCh38]
Chr16:23647239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter) |
single nucleotide variant |
Familial cancer of breast [RCV001954902]|Hereditary cancer-predisposing syndrome [RCV002407093] |
Chr16:23635525 [GRCh38]
Chr16:23646846 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1846G>A (p.Asp616Asn) |
single nucleotide variant |
Familial cancer of breast [RCV001990191] |
Chr16:23630308 [GRCh38]
Chr16:23641629 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1735G>C (p.Ala579Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001901813]|Hereditary cancer-predisposing syndrome [RCV002397881] |
Chr16:23630419 [GRCh38]
Chr16:23641740 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.506T>C (p.Leu169Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001936351] |
Chr16:23636040 [GRCh38]
Chr16:23647361 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.547del (p.Ser183fs) |
deletion |
Familial cancer of breast [RCV002014639] |
Chr16:23635999 [GRCh38]
Chr16:23647320 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2489A>G (p.Glu830Gly) |
single nucleotide variant |
Familial cancer of breast [RCV001977937] |
Chr16:23629665 [GRCh38]
Chr16:23640986 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2897T>G (p.Ile966Arg) |
single nucleotide variant |
Familial cancer of breast [RCV001876857]|Hereditary cancer-predisposing syndrome [RCV004040482]|not provided [RCV003478887] |
Chr16:23623068 [GRCh38]
Chr16:23634389 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.121G>C (p.Ala41Pro) |
single nucleotide variant |
Familial cancer of breast [RCV001898749] |
Chr16:23637940 [GRCh38]
Chr16:23649261 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs) |
insertion |
Familial cancer of breast [RCV001876976] |
Chr16:23635186..23635187 [GRCh38]
Chr16:23646507..23646508 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3044C>A (p.Thr1015Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002012037]|not specified [RCV004699579] |
Chr16:23621431 [GRCh38]
Chr16:23632752 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+50T>C |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226278] |
Chr16:23607814 [GRCh38]
Chr16:23619135 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+18TGA[6] |
microsatellite |
Hereditary breast ovarian cancer syndrome [RCV002226283] |
Chr16:23634821..23634826 [GRCh38]
Chr16:23646142..23646147 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1167T>C (p.Leu389=) |
single nucleotide variant |
Familial cancer of breast [RCV002073572]|Hereditary cancer-predisposing syndrome [RCV004651943] |
Chr16:23635379 [GRCh38]
Chr16:23646700 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+20G>A |
single nucleotide variant |
Familial cancer of breast [RCV002168757] |
Chr16:23613984 [GRCh38]
Chr16:23625305 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-11_2749-7del |
deletion |
Familial cancer of breast [RCV002105514]|not provided [RCV003223751] |
Chr16:23624101..23624105 [GRCh38]
Chr16:23635422..23635426 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2191T>C (p.Leu731=) |
single nucleotide variant |
Familial cancer of breast [RCV002128743] |
Chr16:23629963 [GRCh38]
Chr16:23641284 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+11C>G |
single nucleotide variant |
Familial cancer of breast [RCV002074714] |
Chr16:23623998 [GRCh38]
Chr16:23635319 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+12C>G |
single nucleotide variant |
Familial cancer of breast [RCV002074794] |
Chr16:23621350 [GRCh38]
Chr16:23632671 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2025T>A (p.Leu675=) |
single nucleotide variant |
Familial cancer of breast [RCV002125717] |
Chr16:23630129 [GRCh38]
Chr16:23641450 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2670T>C (p.Ala890=) |
single nucleotide variant |
Familial cancer of breast [RCV002106006] |
Chr16:23626314 [GRCh38]
Chr16:23637635 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.258C>T (p.Thr86=) |
single nucleotide variant |
Familial cancer of breast [RCV002165443] |
Chr16:23636288 [GRCh38]
Chr16:23647609 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2733C>G (p.Thr911=) |
single nucleotide variant |
Familial cancer of breast [RCV002074652] |
Chr16:23626251 [GRCh38]
Chr16:23637572 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1173A>G (p.Ala391=) |
single nucleotide variant |
Familial cancer of breast [RCV002084947] |
Chr16:23635373 [GRCh38]
Chr16:23646694 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+20C>T |
single nucleotide variant |
Familial cancer of breast [RCV002129258] |
Chr16:23629184 [GRCh38]
Chr16:23640505 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1218A>C (p.Ala406=) |
single nucleotide variant |
Familial cancer of breast [RCV002076214] |
Chr16:23635328 [GRCh38]
Chr16:23646649 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+13T>C |
single nucleotide variant |
Familial cancer of breast [RCV002167377] |
Chr16:23622956 [GRCh38]
Chr16:23634277 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+11A>C |
single nucleotide variant |
Familial cancer of breast [RCV002191711] |
Chr16:23607853 [GRCh38]
Chr16:23619174 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+17G>A |
single nucleotide variant |
Familial cancer of breast [RCV002208166] |
Chr16:23623992 [GRCh38]
Chr16:23635313 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2451T>G (p.Thr817=) |
single nucleotide variant |
Familial cancer of breast [RCV002073644]|Hereditary cancer-predisposing syndrome [RCV002443148] |
Chr16:23629703 [GRCh38]
Chr16:23641024 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+19T>A |
single nucleotide variant |
Familial cancer of breast [RCV002205745] |
Chr16:23629185 [GRCh38]
Chr16:23640506 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2514+14C>A |
single nucleotide variant |
Familial cancer of breast [RCV002170219] |
Chr16:23629626 [GRCh38]
Chr16:23640947 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+12A>G |
single nucleotide variant |
Familial cancer of breast [RCV002207316] |
Chr16:23629192 [GRCh38]
Chr16:23640513 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2514+8C>G |
single nucleotide variant |
Familial cancer of breast [RCV002207692] |
Chr16:23629632 [GRCh38]
Chr16:23640953 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-6_1685-4del |
microsatellite |
Familial cancer of breast [RCV002104462]|Hereditary cancer-predisposing syndrome [RCV004046475] |
Chr16:23630473..23630475 [GRCh38]
Chr16:23641794..23641796 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-8T>C |
single nucleotide variant |
Familial cancer of breast [RCV002186905] |
Chr16:23624102 [GRCh38]
Chr16:23635423 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+64T>C |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226287] |
Chr16:23637786 [GRCh38]
Chr16:23649107 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+28C>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226279] |
Chr16:23621334 [GRCh38]
Chr16:23632655 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2754A>G (p.Pro918=) |
single nucleotide variant |
Familial cancer of breast [RCV002125548]|Hereditary cancer-predisposing syndrome [RCV003161593] |
Chr16:23624089 [GRCh38]
Chr16:23635410 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-45T>C |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226285]|not specified [RCV003321915] |
Chr16:23636379 [GRCh38]
Chr16:23647700 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-75G>A |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226288] |
Chr16:23638204 [GRCh38]
Chr16:23649525 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3350+15C>T |
single nucleotide variant |
Familial cancer of breast [RCV002189057] |
Chr16:23607849 [GRCh38]
Chr16:23619170 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-16T>G |
single nucleotide variant |
Familial cancer of breast [RCV002167911] |
Chr16:23636350 [GRCh38]
Chr16:23647671 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1488T>C (p.Asp496=) |
single nucleotide variant |
Familial cancer of breast [RCV002211712] |
Chr16:23635058 [GRCh38]
Chr16:23646379 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2397C>G (p.Thr799=) |
single nucleotide variant |
Familial cancer of breast [RCV002197647] |
Chr16:23629757 [GRCh38]
Chr16:23641078 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3450C>T (p.Leu1150=) |
single nucleotide variant |
Familial cancer of breast [RCV002193458]|Hereditary cancer-predisposing syndrome [RCV002454566] |
Chr16:23603570 [GRCh38]
Chr16:23614891 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1341A>T (p.Ala447=) |
single nucleotide variant |
Familial cancer of breast [RCV002078479] |
Chr16:23635205 [GRCh38]
Chr16:23646526 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3126T>G (p.Thr1042=) |
single nucleotide variant |
Familial cancer of breast [RCV002194939] |
Chr16:23614079 [GRCh38]
Chr16:23625400 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-3dup |
duplication |
Familial cancer of breast [RCV002076974] |
Chr16:23630471..23630472 [GRCh38]
Chr16:23641792..23641793 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1386A>G (p.Glu462=) |
single nucleotide variant |
Familial cancer of breast [RCV002171207] |
Chr16:23635160 [GRCh38]
Chr16:23646481 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3510T>C (p.His1170=) |
single nucleotide variant |
Familial cancer of breast [RCV002081010]|Hereditary cancer-predisposing syndrome [RCV002454418] |
Chr16:23603510 [GRCh38]
Chr16:23614831 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3357G>A (p.Leu1119=) |
single nucleotide variant |
Familial cancer of breast [RCV002149999] |
Chr16:23603663 [GRCh38]
Chr16:23614984 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+79A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226281] |
Chr16:23629125 [GRCh38]
Chr16:23640446 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2904T>G (p.Ala968=) |
single nucleotide variant |
Familial cancer of breast [RCV002194067]|Hereditary cancer-predisposing syndrome [RCV002434590] |
Chr16:23623061 [GRCh38]
Chr16:23634382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.261T>C (p.His87=) |
single nucleotide variant |
Familial cancer of breast [RCV002150805] |
Chr16:23636285 [GRCh38]
Chr16:23647606 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1482T>C (p.Thr494=) |
single nucleotide variant |
Familial cancer of breast [RCV002071697]|Familial cancer of breast [RCV002508065] |
Chr16:23635064 [GRCh38]
Chr16:23646385 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-20A>G |
single nucleotide variant |
Familial cancer of breast [RCV002173256] |
Chr16:23614111 [GRCh38]
Chr16:23625432 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_024675.4(PALB2):c.2587-12C>T |
single nucleotide variant |
Familial cancer of breast [RCV002079515]|Familial cancer of breast [RCV002494346] |
Chr16:23626409 [GRCh38]
Chr16:23637730 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+13C>T |
single nucleotide variant |
Familial cancer of breast [RCV002079356] |
Chr16:23641097 [GRCh38]
Chr16:23652418 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.576A>G (p.Val192=) |
single nucleotide variant |
Familial cancer of breast [RCV002127841] |
Chr16:23635970 [GRCh38]
Chr16:23647291 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+30G>A |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226282]|not specified [RCV004596528] |
Chr16:23629174 [GRCh38]
Chr16:23640495 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.48+8G>A |
single nucleotide variant |
Familial cancer of breast [RCV002174142] |
Chr16:23641102 [GRCh38]
Chr16:23652423 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.123T>A (p.Ala41=) |
single nucleotide variant |
Familial cancer of breast [RCV002172094] |
Chr16:23637938 [GRCh38]
Chr16:23649259 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2529G>A (p.Glu843=) |
single nucleotide variant |
Familial cancer of breast [RCV002196362] |
Chr16:23629261 [GRCh38]
Chr16:23640582 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.510A>G (p.Arg170=) |
single nucleotide variant |
Familial cancer of breast [RCV002176872] |
Chr16:23636036 [GRCh38]
Chr16:23647357 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3087T>A (p.Thr1029=) |
single nucleotide variant |
Familial cancer of breast [RCV002175353] |
Chr16:23621388 [GRCh38]
Chr16:23632709 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1797T>C (p.Ser599=) |
single nucleotide variant |
Familial cancer of breast [RCV002159950] |
Chr16:23630357 [GRCh38]
Chr16:23641678 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2520A>G (p.Glu840=) |
single nucleotide variant |
Familial cancer of breast [RCV002081886] |
Chr16:23629270 [GRCh38]
Chr16:23640591 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+10G>A |
single nucleotide variant |
Familial cancer of breast [RCV002081918] |
Chr16:23622959 [GRCh38]
Chr16:23634280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-17_1685-16del |
deletion |
Familial cancer of breast [RCV002198446] |
Chr16:23630485..23630486 [GRCh38]
Chr16:23641806..23641807 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3057C>A (p.Val1019=) |
single nucleotide variant |
Familial cancer of breast [RCV002217193] |
Chr16:23621418 [GRCh38]
Chr16:23632739 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.753G>A (p.Gln251=) |
single nucleotide variant |
Familial cancer of breast [RCV002158670]|Hereditary cancer-predisposing syndrome [RCV002391334] |
Chr16:23635793 [GRCh38]
Chr16:23647114 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+10G>C |
single nucleotide variant |
Familial cancer of breast [RCV002158740] |
Chr16:23622959 [GRCh38]
Chr16:23634280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-11_2587-10delinsAT |
indel |
Familial cancer of breast [RCV002154938] |
Chr16:23626407..23626408 [GRCh38]
Chr16:23637728..23637729 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-17G>C |
single nucleotide variant |
Familial cancer of breast [RCV002141916] |
Chr16:23629292 [GRCh38]
Chr16:23640613 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.915A>G (p.Val305=) |
single nucleotide variant |
Familial cancer of breast [RCV002202509] |
Chr16:23635631 [GRCh38]
Chr16:23646952 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002223100] |
Chr16:23638120 [GRCh38]
Chr16:23649441 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1784del (p.Asp595fs) |
deletion |
Familial cancer of breast [RCV003475315]|Hereditary cancer-predisposing syndrome [RCV002258422] |
Chr16:23630370 [GRCh38]
Chr16:23641691 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2586+7A>G |
single nucleotide variant |
Familial cancer of breast [RCV002182783] |
Chr16:23629197 [GRCh38]
Chr16:23640518 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-17A>T |
single nucleotide variant |
Familial cancer of breast [RCV002177284] |
Chr16:23636351 [GRCh38]
Chr16:23647672 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.396C>A (p.Val132=) |
single nucleotide variant |
Familial cancer of breast [RCV002179251] |
Chr16:23636150 [GRCh38]
Chr16:23647471 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.735G>T (p.Ala245=) |
single nucleotide variant |
Familial cancer of breast [RCV002177509] |
Chr16:23635811 [GRCh38]
Chr16:23647132 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3202-17T>A |
single nucleotide variant |
Familial cancer of breast [RCV002098168] |
Chr16:23608029 [GRCh38]
Chr16:23619350 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3537T>C (p.Asn1179=) |
single nucleotide variant |
Familial cancer of breast [RCV002179643]|Hereditary cancer-predisposing syndrome [RCV004656862] |
Chr16:23603483 [GRCh38]
Chr16:23614804 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-16G>T |
single nucleotide variant |
Familial cancer of breast [RCV002154626] |
Chr16:23626413 [GRCh38]
Chr16:23637734 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.81A>G (p.Glu27=) |
single nucleotide variant |
Familial cancer of breast [RCV002162451]|Hereditary cancer-predisposing syndrome [RCV002427541] |
Chr16:23638097 [GRCh38]
Chr16:23649418 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2064C>T (p.Asn688=) |
single nucleotide variant |
Familial cancer of breast [RCV002164359] |
Chr16:23630090 [GRCh38]
Chr16:23641411 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+8A>G |
single nucleotide variant |
Familial cancer of breast [RCV002155434] |
Chr16:23622961 [GRCh38]
Chr16:23634282 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3456A>G (p.Pro1152=) |
single nucleotide variant |
Familial cancer of breast [RCV002164567]|Hereditary cancer-predisposing syndrome [RCV002454557] |
Chr16:23603564 [GRCh38]
Chr16:23614885 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.681C>G (p.Ala227=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256996] |
Chr16:23635865 [GRCh38]
Chr16:23647186 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.885A>G (p.Lys295=) |
single nucleotide variant |
Familial cancer of breast [RCV002180541] |
Chr16:23635661 [GRCh38]
Chr16:23646982 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-4C>T |
single nucleotide variant |
Familial cancer of breast [RCV002160865] |
Chr16:23637956 [GRCh38]
Chr16:23649277 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+14C>T |
single nucleotide variant |
Familial cancer of breast [RCV002098112] |
Chr16:23621348 [GRCh38]
Chr16:23632669 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+20T>C |
single nucleotide variant |
Familial cancer of breast [RCV002220502] |
Chr16:23623989 [GRCh38]
Chr16:23635310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2748+20T>C |
single nucleotide variant |
Familial cancer of breast [RCV002123073] |
Chr16:23626216 [GRCh38]
Chr16:23637537 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1377C>T (p.Asp459=) |
single nucleotide variant |
Familial cancer of breast [RCV002183024]|Hereditary cancer-predisposing syndrome [RCV004045067] |
Chr16:23635169 [GRCh38]
Chr16:23646490 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2757A>G (p.Val919=) |
single nucleotide variant |
Familial cancer of breast [RCV002198693]|Hereditary cancer-predisposing syndrome [RCV004651960] |
Chr16:23624086 [GRCh38]
Chr16:23635407 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1542A>G (p.Gly514=) |
single nucleotide variant |
Familial cancer of breast [RCV002180061] |
Chr16:23635004 [GRCh38]
Chr16:23646325 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2835-6G>T |
single nucleotide variant |
Familial cancer of breast [RCV002119091] |
Chr16:23623136 [GRCh38]
Chr16:23634457 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.477G>A (p.Glu159=) |
single nucleotide variant |
Familial cancer of breast [RCV002159422]|Hereditary cancer-predisposing syndrome [RCV003585196]|not provided [RCV002479850] |
Chr16:23636069 [GRCh38]
Chr16:23647390 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-15T>C |
single nucleotide variant |
Familial cancer of breast [RCV002175244] |
Chr16:23614106 [GRCh38]
Chr16:23625427 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3108T>A (p.Val1036=) |
single nucleotide variant |
Familial cancer of breast [RCV002183078] |
Chr16:23621367 [GRCh38]
Chr16:23632688 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.49-13T>C |
single nucleotide variant |
Familial cancer of breast [RCV002216517] |
Chr16:23638142 [GRCh38]
Chr16:23649463 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2805T>G (p.Ala935=) |
single nucleotide variant |
Familial cancer of breast [RCV002099899] |
Chr16:23624038 [GRCh38]
Chr16:23635359 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.942A>C (p.Gln314His) |
single nucleotide variant |
Familial cancer of breast [RCV002203214] |
Chr16:23635604 [GRCh38]
Chr16:23646925 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+15G>A |
single nucleotide variant |
Familial cancer of breast [RCV002183139] |
Chr16:23641095 [GRCh38]
Chr16:23652416 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.732G>A (p.Arg244=) |
single nucleotide variant |
Familial cancer of breast [RCV002135564]|Hereditary cancer-predisposing syndrome [RCV002382424] |
Chr16:23635814 [GRCh38]
Chr16:23647135 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-11del |
deletion |
Familial cancer of breast [RCV002161857] |
Chr16:23626408 [GRCh38]
Chr16:23637729 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2661C>T (p.Ile887=) |
single nucleotide variant |
Familial cancer of breast [RCV002218929] |
Chr16:23626323 [GRCh38]
Chr16:23637644 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+9T>A |
single nucleotide variant |
Familial cancer of breast [RCV002083722] |
Chr16:23613995 [GRCh38]
Chr16:23625316 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2388A>G (p.Gly796=) |
single nucleotide variant |
Familial cancer of breast [RCV002156671] |
Chr16:23629766 [GRCh38]
Chr16:23641087 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.93A>C (p.Thr31=) |
single nucleotide variant |
Familial cancer of breast [RCV002160285]|Hereditary cancer-predisposing syndrome [RCV002372952] |
Chr16:23638085 [GRCh38]
Chr16:23649406 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2703G>A (p.Leu901=) |
single nucleotide variant |
Familial cancer of breast [RCV002155222] |
Chr16:23626281 [GRCh38]
Chr16:23637602 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1332T>C (p.Asn444=) |
single nucleotide variant |
Familial cancer of breast [RCV002121059] |
Chr16:23635214 [GRCh38]
Chr16:23646535 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2433A>C (p.Pro811=) |
single nucleotide variant |
Familial cancer of breast [RCV002102857] |
Chr16:23629721 [GRCh38]
Chr16:23641042 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2565A>G (p.Leu855=) |
single nucleotide variant |
Familial cancer of breast [RCV002161066]|Hereditary cancer-predisposing syndrome [RCV003355822] |
Chr16:23629225 [GRCh38]
Chr16:23640546 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+16A>G |
single nucleotide variant |
Familial cancer of breast [RCV002082852] |
Chr16:23621346 [GRCh38]
Chr16:23632667 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3498T>A (p.Gly1166=) |
single nucleotide variant |
Familial cancer of breast [RCV002180335]|Hereditary cancer-predisposing syndrome [RCV002454363] |
Chr16:23603522 [GRCh38]
Chr16:23614843 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2957A>T (p.Asp986Val) |
single nucleotide variant |
Familial cancer of breast [RCV003115442] |
Chr16:23623008 [GRCh38]
Chr16:23634329 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23193865)_(23652612_?)del |
deletion |
COG7 congenital disorder of glycosylation [RCV003113761] |
Chr16:23193865..23652612 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.833del (p.Leu278fs) |
deletion |
Familial cancer of breast [RCV003112338] |
Chr16:23635713 [GRCh38]
Chr16:23647034 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23543958)_(23619353_?)del |
deletion |
not provided [RCV003122502] |
Chr16:23543958..23619353 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23625315)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV003122691] |
Chr16:23625315..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23640515)_(23647665_?)del |
deletion |
Familial cancer of breast [RCV003122692] |
Chr16:23640515..23647665 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23622903)_(23625309_?)del |
deletion |
Familial cancer of breast [RCV003122693] |
Chr16:23622903..23625309 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23619175)_(23652478_?)dup |
duplication |
Familial cancer of breast [RCV003122694] |
Chr16:23619175..23652478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614634)_(23625422_?)dup |
duplication |
Familial cancer of breast [RCV003122696] |
Chr16:23614634..23625422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23632673)_(23634461_?)dup |
duplication |
Familial cancer of breast [RCV003122697] |
Chr16:23632673..23634461 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23584033)_(23647150_?)del |
deletion |
Familial cancer of breast [RCV003122698] |
Chr16:23584033..23647150 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23614634)_(23649460_?)del |
deletion |
Familial cancer of breast [RCV003122699] |
Chr16:23614634..23649460 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23640505)_(23641810_?)del |
deletion |
Familial cancer of breast [RCV003122700] |
Chr16:23640505..23641810 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1802del (p.Lys601fs) |
deletion |
Familial cancer of breast [RCV003148447] |
Chr16:23630352 [GRCh38]
Chr16:23641673 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del |
deletion |
Malignant tumor of breast [RCV002271948] |
Chr16:23635382..23635416 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2876T>C (p.Val959Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002254841] |
Chr16:23623089 [GRCh38]
Chr16:23634410 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2016A>C (p.Glu672Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256992] |
Chr16:23630138 [GRCh38]
Chr16:23641459 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1581T>C (p.Cys527=) |
single nucleotide variant |
Familial cancer of breast [RCV003101405]|Hereditary cancer-predisposing syndrome [RCV002258421] |
Chr16:23634965 [GRCh38]
Chr16:23646286 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3168A>C (p.Gln1056His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258425] |
Chr16:23614037 [GRCh38]
Chr16:23625358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.648T>A (p.Ile216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255801] |
Chr16:23635898 [GRCh38]
Chr16:23647219 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2514+7T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256993] |
Chr16:23629633 [GRCh38]
Chr16:23640954 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1317dup (p.Phe440fs) |
duplication |
Familial cancer of breast [RCV003607433]|Hereditary cancer-predisposing syndrome [RCV002256990] |
Chr16:23635228..23635229 [GRCh38]
Chr16:23646549..23646550 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1235C>G (p.Thr412Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278568] |
Chr16:23635311 [GRCh38]
Chr16:23646632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2833A>G (p.Arg945Gly) |
single nucleotide variant |
Diffuse midline glioma, H3 K27-altered [RCV003315265]|Familial cancer of breast [RCV003607551]|Hereditary cancer-predisposing syndrome [RCV002435143] |
Chr16:23624010 [GRCh38]
Chr16:23635331 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3401C>A (p.Ser1134Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452082] |
Chr16:23603619 [GRCh38]
Chr16:23614940 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3409A>C (p.Ile1137Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452144] |
Chr16:23603611 [GRCh38]
Chr16:23614932 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2020G>T (p.Asp674Tyr) |
single nucleotide variant |
not specified [RCV002269043] |
Chr16:23630134 [GRCh38]
Chr16:23641455 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.163C>A (p.Gln55Lys) |
single nucleotide variant |
not specified [RCV002269046] |
Chr16:23637898 [GRCh38]
Chr16:23649219 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+50C>T |
single nucleotide variant |
not specified [RCV002269047] |
Chr16:23641060 [GRCh38]
Chr16:23652381 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.741A>G (p.Thr247=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384959] |
Chr16:23635805 [GRCh38]
Chr16:23647126 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs) |
microsatellite |
Lynch syndrome 1 [RCV002267180] |
Chr16:23607899..23607900 [GRCh38]
Chr16:23619220..23619221 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3397A>G (p.Thr1133Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451960] |
Chr16:23603623 [GRCh38]
Chr16:23614944 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2838A>T (p.Ala946=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435199] |
Chr16:23623127 [GRCh38]
Chr16:23634448 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.160_163delinsCAAG (p.Glu54_Gln55delinsGlnGlu) |
indel |
not provided [RCV002276396] |
Chr16:23637898..23637901 [GRCh38]
Chr16:23649219..23649222 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2842T>C (p.Phe948Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435269] |
Chr16:23623123 [GRCh38]
Chr16:23634444 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-34A>C |
single nucleotide variant |
not specified [RCV002269039] |
Chr16:23621512 [GRCh38]
Chr16:23632833 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-48A>C |
single nucleotide variant |
not specified [RCV002269041] |
Chr16:23626445 [GRCh38]
Chr16:23637766 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1685-50_1685-47del |
deletion |
not specified [RCV002269044] |
Chr16:23630516..23630519 [GRCh38]
Chr16:23641837..23641840 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2850C>A (p.Ser950=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435357] |
Chr16:23623115 [GRCh38]
Chr16:23634436 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2995G>C (p.Gly999Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435541] |
Chr16:23622970 [GRCh38]
Chr16:23634291 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.700G>A (p.Asp234Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363736]|not specified [RCV002266535] |
Chr16:23635846 [GRCh38]
Chr16:23647167 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614482)_(23619334_23625324)del |
deletion |
Malignant tumor of breast [RCV002281873] |
Chr16:23614482..23619334 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3003del (p.Glu1002fs) |
deletion |
Familial cancer of breast [RCV003500799]|Hereditary cancer-predisposing syndrome [RCV002435690] |
Chr16:23621472 [GRCh38]
Chr16:23632793 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3350+39C>G |
single nucleotide variant |
not specified [RCV002269036] |
Chr16:23607825 [GRCh38]
Chr16:23619146 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1966C>T (p.Pro656Ser) |
single nucleotide variant |
not provided [RCV002293927] |
Chr16:23630188 [GRCh38]
Chr16:23641509 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(23614991_23619184)_(23619334_23625324)dup |
duplication |
Hereditary breast ovarian cancer syndrome [RCV003236286] |
Chr16:23619184..23619334 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.758T>C (p.Leu253Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002288318]|Hereditary cancer-predisposing syndrome [RCV002391399] |
Chr16:23635788 [GRCh38]
Chr16:23647109 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2997-28C>T |
single nucleotide variant |
not specified [RCV002269038] |
Chr16:23621506 [GRCh38]
Chr16:23632827 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+39C>A |
single nucleotide variant |
not specified [RCV002269048] |
Chr16:23641071 [GRCh38]
Chr16:23652392 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-45C>G |
single nucleotide variant |
not specified [RCV002269049] |
Chr16:23641202 [GRCh38]
Chr16:23652523 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-47A>G |
single nucleotide variant |
not specified [RCV002269040] |
Chr16:23626444 [GRCh38]
Chr16:23637765 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1523C>G (p.Pro508Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002288988]|Hereditary cancer-predisposing syndrome [RCV002391400] |
Chr16:23635023 [GRCh38]
Chr16:23646344 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3417T>C (p.Ile1139=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452205] |
Chr16:23603603 [GRCh38]
Chr16:23614924 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2854G>A (p.Asp952Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435411] |
Chr16:23623111 [GRCh38]
Chr16:23634432 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.83del (p.Tyr28fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002434900] |
Chr16:23638095 [GRCh38]
Chr16:23649416 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003607453]|Hereditary cancer-predisposing syndrome [RCV002451830] |
Chr16:23603640 [GRCh38]
Chr16:23614961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2549dup (p.Asn851fs) |
duplication |
Familial cancer of breast [RCV003336740]|Hereditary cancer-predisposing syndrome [RCV002434947]|not provided [RCV003477007] |
Chr16:23629240..23629241 [GRCh38]
Chr16:23640561..23640562 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2997A>G (p.Gly999=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435555] |
Chr16:23621478 [GRCh38]
Chr16:23632799 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1117del (p.Glu373fs) |
deletion |
Familial cancer of breast [RCV003102768]|Hereditary cancer-predisposing syndrome [RCV002435112] |
Chr16:23635429 [GRCh38]
Chr16:23646750 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.774dup (p.Ser259Ter) |
duplication |
Hereditary breast ovarian cancer syndrome [RCV003236287] |
Chr16:23635771..23635772 [GRCh38]
Chr16:23647092..23647093 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2868A>G (p.Glu956=) |
single nucleotide variant |
Familial cancer of breast [RCV003102802]|Hereditary cancer-predisposing syndrome [RCV002437634] |
Chr16:23623097 [GRCh38]
Chr16:23634418 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1191del (p.Val398fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002351429] |
Chr16:23635355 [GRCh38]
Chr16:23646676 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2891G>C (p.Gly964Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437940] |
Chr16:23623074 [GRCh38]
Chr16:23634395 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1257C>A (p.Cys419Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419503] |
Chr16:23635289 [GRCh38]
Chr16:23646610 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2660T>A (p.Ile887Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453126] |
Chr16:23626324 [GRCh38]
Chr16:23637645 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1117G>A (p.Glu373Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435138] |
Chr16:23635429 [GRCh38]
Chr16:23646750 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1325A>T (p.Asn442Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385770] |
Chr16:23635221 [GRCh38]
Chr16:23646542 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-41G>A |
single nucleotide variant |
not specified [RCV002269035] |
Chr16:23603710 [GRCh38]
Chr16:23615031 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3113+34T>C |
single nucleotide variant |
not specified [RCV002269037] |
Chr16:23621328 [GRCh38]
Chr16:23632649 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-46A>G |
single nucleotide variant |
not specified [RCV002269042] |
Chr16:23629321 [GRCh38]
Chr16:23640642 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3017dup (p.Leu1006fs) |
duplication |
Familial cancer of breast [RCV003455507]|Hereditary cancer-predisposing syndrome [RCV002435838] |
Chr16:23621457..23621458 [GRCh38]
Chr16:23632778..23632779 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.962T>C (p.Leu321Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385348] |
Chr16:23635584 [GRCh38]
Chr16:23646905 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2575T>A (p.Ser859Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452794] |
Chr16:23629215 [GRCh38]
Chr16:23640536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3023C>A (p.Pro1008His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435911] |
Chr16:23621452 [GRCh38]
Chr16:23632773 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2876dup (p.Leu960fs) |
duplication |
Familial cancer of breast [RCV003607553]|Hereditary cancer-predisposing syndrome [RCV002437726] |
Chr16:23623088..23623089 [GRCh38]
Chr16:23634409..23634410 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2577A>G (p.Ser859=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452804] |
Chr16:23629213 [GRCh38]
Chr16:23640534 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer) |
insertion |
Familial cancer of breast [RCV003455509]|Hereditary cancer-predisposing syndrome [RCV002435932] |
Chr16:23621448..23621449 [GRCh38]
Chr16:23632769..23632770 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.257C>T (p.Thr86Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003607547]|Hereditary cancer-predisposing syndrome [RCV002452828] |
Chr16:23636289 [GRCh38]
Chr16:23647610 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2241_2245del (p.Thr748fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002420183] |
Chr16:23629909..23629913 [GRCh38]
Chr16:23641230..23641234 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2241T>A (p.Ser747=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420186] |
Chr16:23629913 [GRCh38]
Chr16:23641234 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2245G>A (p.Glu749Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003101162]|Hereditary cancer-predisposing syndrome [RCV002420207] |
Chr16:23629909 [GRCh38]
Chr16:23641230 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3295A>G (p.Thr1099Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002297446] |
Chr16:23607919 [GRCh38]
Chr16:23619240 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2075A>C (p.Gln692Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002297452] |
Chr16:23630079 [GRCh38]
Chr16:23641400 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1075A>G (p.Ser359Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419665] |
Chr16:23635471 [GRCh38]
Chr16:23646792 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1310A>G (p.Lys437Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003094951]|Hereditary cancer-predisposing syndrome [RCV002385430] |
Chr16:23635236 [GRCh38]
Chr16:23646557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3016T>A (p.Leu1006Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435834] |
Chr16:23621459 [GRCh38]
Chr16:23632780 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2767G>A (p.Val923Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002295781]|Hereditary cancer-predisposing syndrome [RCV002434625]|not specified [RCV003321921] |
Chr16:23624076 [GRCh38]
Chr16:23635397 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.979T>C (p.Cys327Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607498]|Hereditary cancer-predisposing syndrome [RCV002387224] |
Chr16:23635567 [GRCh38]
Chr16:23646888 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3548_3556dup (p.Tyr1185_Ser1186insTyrHisTyr) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002454831] |
Chr16:23603463..23603464 [GRCh38]
Chr16:23614784..23614785 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1335G>A (p.Lys445=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387581] |
Chr16:23635211 [GRCh38]
Chr16:23646532 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003102964]|Hereditary cancer-predisposing syndrome [RCV002435654] |
Chr16:23641156 [GRCh38]
Chr16:23652477 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1336G>A (p.Asp446Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387595] |
Chr16:23635210 [GRCh38]
Chr16:23646531 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1336G>C (p.Asp446His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387598] |
Chr16:23635210 [GRCh38]
Chr16:23646531 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3010C>G (p.Gln1004Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435780] |
Chr16:23621465 [GRCh38]
Chr16:23632786 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1331A>T (p.Asn444Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387497] |
Chr16:23635215 [GRCh38]
Chr16:23646536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1312A>C (p.Lys438Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385475] |
Chr16:23635234 [GRCh38]
Chr16:23646555 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.378A>T (p.Glu126Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351195] |
Chr16:23636168 [GRCh38]
Chr16:23647489 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.974T>C (p.Ile325Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003094867]|Hereditary cancer-predisposing syndrome [RCV002387096] |
Chr16:23635572 [GRCh38]
Chr16:23646893 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.28A>T (p.Ser10Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438034] |
Chr16:23641130 [GRCh38]
Chr16:23652451 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3388G>C (p.Ala1130Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451877] |
Chr16:23603632 [GRCh38]
Chr16:23614953 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3315G>A (p.Val1105=) |
single nucleotide variant |
Familial cancer of breast [RCV003500705]|Hereditary cancer-predisposing syndrome [RCV002454725] |
Chr16:23607899 [GRCh38]
Chr16:23619220 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.574G>A (p.Val192Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349922] |
Chr16:23635972 [GRCh38]
Chr16:23647293 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-344T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351292] |
Chr16:23638473 [GRCh38]
Chr16:23649794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2577A>T (p.Ser859=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452807] |
Chr16:23629213 [GRCh38]
Chr16:23640534 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2035C>T (p.Pro679Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419840] |
Chr16:23630119 [GRCh38]
Chr16:23641440 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1950G>C (p.Glu650Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421539] |
Chr16:23630204 [GRCh38]
Chr16:23641525 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1317G>T (p.Gly439=) |
single nucleotide variant |
Familial cancer of breast [RCV003103642]|Hereditary cancer-predisposing syndrome [RCV002385602] |
Chr16:23635229 [GRCh38]
Chr16:23646550 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2739C>T (p.His913=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437569] |
Chr16:23626245 [GRCh38]
Chr16:23637566 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3296C>A (p.Thr1099Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003099371]|Hereditary cancer-predisposing syndrome [RCV002454645] |
Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.285G>C (p.Lys95Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435472] |
Chr16:23636261 [GRCh38]
Chr16:23647582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2038G>C (p.Gly680Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419880] |
Chr16:23630116 [GRCh38]
Chr16:23641437 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3008A>G (p.Asn1003Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435731] |
Chr16:23621467 [GRCh38]
Chr16:23632788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1596A>C (p.Pro532=) |
single nucleotide variant |
Familial cancer of breast [RCV002903231] |
Chr16:23634950 [GRCh38]
Chr16:23646271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2990A>T (p.Asp997Val) |
single nucleotide variant |
Familial cancer of breast [RCV002681462] |
Chr16:23622975 [GRCh38]
Chr16:23634296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-18C>T |
single nucleotide variant |
not specified [RCV002466162] |
Chr16:23630487 [GRCh38]
Chr16:23641808 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1270G>A (p.Ala424Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002569351]|not specified [RCV002466164] |
Chr16:23635276 [GRCh38]
Chr16:23646597 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1879G>C (p.Val627Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003774539]|Hereditary cancer-predisposing syndrome [RCV002415264] |
Chr16:23630275 [GRCh38]
Chr16:23641596 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.1880T>C (p.Val627Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415306] |
Chr16:23630274 [GRCh38]
Chr16:23641595 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-3C>T |
single nucleotide variant |
Familial cancer of breast [RCV003096536]|Hereditary cancer-predisposing syndrome [RCV002342677] |
Chr16:23638132 [GRCh38]
Chr16:23649453 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.78G>C (p.Arg26Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416647] |
Chr16:23638100 [GRCh38]
Chr16:23649421 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.790C>T (p.His264Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416679] |
Chr16:23635756 [GRCh38]
Chr16:23647077 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.791A>G (p.His264Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003500747]|Hereditary cancer-predisposing syndrome [RCV002416711] |
Chr16:23635755 [GRCh38]
Chr16:23647076 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1932A>T (p.Gly644=) |
single nucleotide variant |
Familial cancer of breast [RCV003607533]|Hereditary cancer-predisposing syndrome [RCV002410936] |
Chr16:23630222 [GRCh38]
Chr16:23641543 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417103] |
Chr16:23641157 [GRCh38]
Chr16:23652478 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 |
copy number gain |
not provided [RCV002474541] |
Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_024675.4(PALB2):c.2015A>G (p.Glu672Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417396] |
Chr16:23630139 [GRCh38]
Chr16:23641460 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+16G>T |
single nucleotide variant |
not specified [RCV002466160] |
Chr16:23623993 [GRCh38]
Chr16:23635314 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+40T>C |
single nucleotide variant |
not specified [RCV002466161] |
Chr16:23629164 [GRCh38]
Chr16:23640485 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.87C>T (p.Ser29=) |
single nucleotide variant |
Familial cancer of breast [RCV002837924]|Hereditary cancer-predisposing syndrome [RCV004661485] |
Chr16:23638091 [GRCh38]
Chr16:23649412 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.526C>A (p.Leu176Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344378] |
Chr16:23636020 [GRCh38]
Chr16:23647341 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2112T>G (p.Leu704=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417514] |
Chr16:23630042 [GRCh38]
Chr16:23641363 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2166C>T (p.Asp722=) |
single nucleotide variant |
Familial cancer of breast [RCV003101098]|Hereditary cancer-predisposing syndrome [RCV002417920] |
Chr16:23629988 [GRCh38]
Chr16:23641309 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1205_1206delinsGC (p.Leu402Arg) |
indel |
Hereditary cancer-predisposing syndrome [RCV002344830] |
Chr16:23635340..23635341 [GRCh38]
Chr16:23646661..23646662 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3082G>T (p.Gly1028Cys) |
single nucleotide variant |
Familial cancer of breast [RCV002299260] |
Chr16:23621393 [GRCh38]
Chr16:23632714 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1004dup (p.Asn335fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002398818] |
Chr16:23635541..23635542 [GRCh38]
Chr16:23646862..23646863 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.376G>A (p.Glu126Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003500711]|Hereditary cancer-predisposing syndrome [RCV002363862]|not provided [RCV003478969] |
Chr16:23636170 [GRCh38]
Chr16:23647491 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1074C>T (p.Pro358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417359] |
Chr16:23635472 [GRCh38]
Chr16:23646793 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2016A>G (p.Glu672=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417405] |
Chr16:23630138 [GRCh38]
Chr16:23641459 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.611C>A (p.Ser204Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360263] |
Chr16:23635935 [GRCh38]
Chr16:23647256 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2312G>A (p.Ser771Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446462] |
Chr16:23629842 [GRCh38]
Chr16:23641163 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2130G>T (p.Thr710=) |
single nucleotide variant |
Familial cancer of breast [RCV003098643]|Hereditary cancer-predisposing syndrome [RCV002417777] |
Chr16:23630024 [GRCh38]
Chr16:23641345 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2133T>C (p.Val711=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417822] |
Chr16:23630021 [GRCh38]
Chr16:23641342 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1192G>C (p.Val398Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002301119]|Hereditary cancer-predisposing syndrome [RCV002337434] |
Chr16:23635354 [GRCh38]
Chr16:23646675 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2408_2413dup (p.Ser804_Val805insAspSer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002459699] |
Chr16:23629740..23629741 [GRCh38]
Chr16:23641061..23641062 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.467T>C (p.Ile156Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002303947] |
Chr16:23636079 [GRCh38]
Chr16:23647400 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2433A>G (p.Pro811=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459904] |
Chr16:23629721 [GRCh38]
Chr16:23641042 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3205C>T (p.Leu1069Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003500703]|Hereditary cancer-predisposing syndrome [RCV002443370] |
Chr16:23608009 [GRCh38]
Chr16:23619330 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1688A>T (p.Lys563Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406116] |
Chr16:23630466 [GRCh38]
Chr16:23641787 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1689G>T (p.Lys563Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406135] |
Chr16:23630465 [GRCh38]
Chr16:23641786 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3381T>G (p.Cys1127Trp) |
single nucleotide variant |
Familial cancer of breast [RCV002298192] |
Chr16:23603639 [GRCh38]
Chr16:23614960 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.946C>G (p.Pro316Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443495] |
Chr16:23635600 [GRCh38]
Chr16:23646921 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2252del (p.Ala751fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002443566] |
Chr16:23629902 [GRCh38]
Chr16:23641223 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2984C>G (p.Ala995Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002304198] |
Chr16:23622981 [GRCh38]
Chr16:23634302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2908C>T (p.Leu970Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439782] |
Chr16:23623057 [GRCh38]
Chr16:23634378 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1051A>C (p.Thr351Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403620] |
Chr16:23635495 [GRCh38]
Chr16:23646816 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1651T>C (p.Tyr551His) |
single nucleotide variant |
Familial cancer of breast [RCV003097062]|Hereditary cancer-predisposing syndrome [RCV002403672] |
Chr16:23634895 [GRCh38]
Chr16:23646216 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2055A>C (p.Lys685Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002304300] |
Chr16:23630099 [GRCh38]
Chr16:23641420 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1407C>T (p.Cys469=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389399] |
Chr16:23635139 [GRCh38]
Chr16:23646460 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3420G>T (p.Trp1140Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456948] |
Chr16:23603600 [GRCh38]
Chr16:23614921 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3422A>G (p.Asp1141Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456961] |
Chr16:23603598 [GRCh38]
Chr16:23614919 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.912T>C (p.Leu304=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378744] |
Chr16:23635634 [GRCh38]
Chr16:23646955 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2480C>A (p.Thr827Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430783] |
Chr16:23629674 [GRCh38]
Chr16:23640995 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2421A>G (p.Pro807=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450402] |
Chr16:23629733 [GRCh38]
Chr16:23641054 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3438G>A (p.Gln1146=) |
single nucleotide variant |
Familial cancer of breast [RCV003102377]|Hereditary cancer-predisposing syndrome [RCV002457082]|not specified [RCV002465937] |
Chr16:23603582 [GRCh38]
Chr16:23614903 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3439T>G (p.Cys1147Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457090] |
Chr16:23603581 [GRCh38]
Chr16:23614902 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1991T>A (p.Met664Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423851] |
Chr16:23630163 [GRCh38]
Chr16:23641484 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.286A>G (p.Thr96Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002299816] |
Chr16:23636260 [GRCh38]
Chr16:23647581 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2499A>G (p.Lys833=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431026] |
Chr16:23629655 [GRCh38]
Chr16:23640976 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1500T>A (p.Ser500=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389935] |
Chr16:23635046 [GRCh38]
Chr16:23646367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2089G>T (p.Gly697Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424005] |
Chr16:23630065 [GRCh38]
Chr16:23641386 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.358A>G (p.Arg120Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339826] |
Chr16:23636188 [GRCh38]
Chr16:23647509 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3:c.2099_2100insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002424146] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.2105T>A (p.Ile702Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003607538]|Hereditary cancer-predisposing syndrome [RCV002424295] |
Chr16:23630049 [GRCh38]
Chr16:23641370 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3171T>A (p.Ala1057=) |
single nucleotide variant |
Familial cancer of breast [RCV003102321]|Hereditary cancer-predisposing syndrome [RCV002322641] |
Chr16:23614034 [GRCh38]
Chr16:23625355 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1741T>C (p.Leu581=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401417] |
Chr16:23630413 [GRCh38]
Chr16:23641734 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1270G>T (p.Ala424Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376376] |
Chr16:23635276 [GRCh38]
Chr16:23646597 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1746C>A (p.Ser582=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401494] |
Chr16:23630408 [GRCh38]
Chr16:23641729 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3095T>C (p.Met1032Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325845] |
Chr16:23621380 [GRCh38]
Chr16:23632701 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1611G>T (p.Ser537=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400913] |
Chr16:23634935 [GRCh38]
Chr16:23646256 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2261C>T (p.Thr754Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002304951] |
Chr16:23629893 [GRCh38]
Chr16:23641214 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3364G>A (p.Asp1122Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002304956] |
Chr16:23603656 [GRCh38]
Chr16:23614977 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2786A>T (p.Tyr929Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441356] |
Chr16:23624057 [GRCh38]
Chr16:23635378 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2797del (p.Cys933fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002441475] |
Chr16:23624046 [GRCh38]
Chr16:23635367 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003336742]|Hereditary cancer-predisposing syndrome [RCV002428590] |
Chr16:23626349 [GRCh38]
Chr16:23637670 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1457A>C (p.Lys486Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394724] |
Chr16:23635089 [GRCh38]
Chr16:23646410 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1280C>G (p.Ala427Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376579] |
Chr16:23635266 [GRCh38]
Chr16:23646587 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3217G>A (p.Val1073Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445445] |
Chr16:23607997 [GRCh38]
Chr16:23619318 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1174G>T (p.Glu392Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333831] |
Chr16:23635372 [GRCh38]
Chr16:23646693 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1363A>G (p.Asn455Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383539] |
Chr16:23635183 [GRCh38]
Chr16:23646504 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1993G>A (p.Asp665Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003475375]|Hereditary cancer-predisposing syndrome [RCV002416952] |
Chr16:23630161 [GRCh38]
Chr16:23641482 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1187dup (p.Cys396fs) |
duplication |
Familial cancer of breast [RCV003454158]|Hereditary cancer-predisposing syndrome [RCV002340467] |
Chr16:23635358..23635359 [GRCh38]
Chr16:23646679..23646680 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1998A>G (p.Thr666=) |
single nucleotide variant |
Familial cancer of breast [RCV003607535]|Hereditary cancer-predisposing syndrome [RCV002417020] |
Chr16:23630156 [GRCh38]
Chr16:23641477 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2199_2203del (p.Thr734fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002425632] |
Chr16:23629951..23629955 [GRCh38]
Chr16:23641272..23641276 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2683G>A (p.Val895Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428913] |
Chr16:23626301 [GRCh38]
Chr16:23637622 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1600T>A (p.Ser534Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398694] |
Chr16:23634946 [GRCh38]
Chr16:23646267 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1074C>A (p.Pro358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417262] |
Chr16:23635472 [GRCh38]
Chr16:23646793 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2004GGA[1] (p.Glu669del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002417267] |
Chr16:23630145..23630147 [GRCh38]
Chr16:23641466..23641468 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.871G>T (p.Ala291Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373475] |
Chr16:23635675 [GRCh38]
Chr16:23646996 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.595_596insA (p.Leu199fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002355988] |
Chr16:23635950..23635951 [GRCh38]
Chr16:23647271..23647272 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.873A>C (p.Ala291=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373515] |
Chr16:23635673 [GRCh38]
Chr16:23646994 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1770T>C (p.Ala590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401827] |
Chr16:23630384 [GRCh38]
Chr16:23641705 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1563C>A (p.Thr521=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405463] |
Chr16:23634983 [GRCh38]
Chr16:23646304 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.699T>C (p.Val233=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364727] |
Chr16:23635847 [GRCh38]
Chr16:23647168 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3434G>T (p.Gly1145Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457057] |
Chr16:23603586 [GRCh38]
Chr16:23614907 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.852T>A (p.Thr284=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447805] |
Chr16:23635694 [GRCh38]
Chr16:23647015 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1305C>A (p.Val435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380933] |
Chr16:23635241 [GRCh38]
Chr16:23646562 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1306A>G (p.Lys436Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380957] |
Chr16:23635240 [GRCh38]
Chr16:23646561 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1197T>C (p.Pro399=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341014] |
Chr16:23635349 [GRCh38]
Chr16:23646670 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3273G>A (p.Gln1091=) |
single nucleotide variant |
Familial cancer of breast [RCV003607451]|Hereditary cancer-predisposing syndrome [RCV002325015] |
Chr16:23607941 [GRCh38]
Chr16:23619262 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607520]|Hereditary cancer-predisposing syndrome [RCV002405507]|not provided [RCV003476987] |
Chr16:23634981 [GRCh38]
Chr16:23646302 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2930T>A (p.Leu977Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440067] |
Chr16:23623035 [GRCh38]
Chr16:23634356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2936G>A (p.Ser979Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003102898]|Hereditary cancer-predisposing syndrome [RCV002440115] |
Chr16:23623029 [GRCh38]
Chr16:23634350 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2222G>C (p.Gly741Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428101] |
Chr16:23629932 [GRCh38]
Chr16:23641253 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3009C>A (p.Asn1003Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002296322] |
Chr16:23621466 [GRCh38]
Chr16:23632787 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1671del (p.Phe557fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002405867] |
Chr16:23634875 [GRCh38]
Chr16:23646196 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3137T>A (p.Leu1046Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002301637]|Hereditary cancer-predisposing syndrome [RCV004047679]|not provided [RCV003478961] |
Chr16:23614068 [GRCh38]
Chr16:23625389 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2977A>G (p.Thr993Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442151] |
Chr16:23622988 [GRCh38]
Chr16:23634309 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3283A>G (p.Ile1095Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445780] |
Chr16:23607931 [GRCh38]
Chr16:23619252 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3285T>C (p.Ile1095=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445799] |
Chr16:23607929 [GRCh38]
Chr16:23619250 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1297T>A (p.Leu433Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380689] |
Chr16:23635249 [GRCh38]
Chr16:23646570 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2466G>C (p.Gln822His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450582] |
Chr16:23629688 [GRCh38]
Chr16:23641009 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2575T>C (p.Ser859Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426042] |
Chr16:23629215 [GRCh38]
Chr16:23640536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3555T>C (p.Tyr1185=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339751] |
Chr16:23603465 [GRCh38]
Chr16:23614786 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.724T>C (p.Phe242Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371113] |
Chr16:23635822 [GRCh38]
Chr16:23647143 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1965T>A (p.Phe655Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423385]|not specified [RCV003321945] |
Chr16:23630189 [GRCh38]
Chr16:23641510 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1258C>G (p.Gln420Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427801] |
Chr16:23635288 [GRCh38]
Chr16:23646609 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.603T>C (p.Ser201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358225] |
Chr16:23635943 [GRCh38]
Chr16:23647264 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2050C>A (p.Pro684Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421815] |
Chr16:23630104 [GRCh38]
Chr16:23641425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1513G>A (p.Ala505Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392272] |
Chr16:23635033 [GRCh38]
Chr16:23646354 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426097] |
Chr16:23626400 [GRCh38]
Chr16:23637721 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1449A>G (p.Ser483=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394508] |
Chr16:23635097 [GRCh38]
Chr16:23646418 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2712del (p.Trp904fs) |
deletion |
Familial cancer of breast [RCV003455493]|Hereditary cancer-predisposing syndrome [RCV002431204] |
Chr16:23626272 [GRCh38]
Chr16:23637593 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3509A>C (p.His1170Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459190] |
Chr16:23603511 [GRCh38]
Chr16:23614832 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.157G>C (p.Glu53Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405777] |
Chr16:23637904 [GRCh38]
Chr16:23649225 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.729C>T (p.Thr243=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382729] |
Chr16:23635817 [GRCh38]
Chr16:23647138 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2505C>G (p.Ser835=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455636] |
Chr16:23629649 [GRCh38]
Chr16:23640970 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2248G>C (p.Val750Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428424] |
Chr16:23629906 [GRCh38]
Chr16:23641227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.9_48+118del |
deletion |
Familial cancer of breast [RCV003454223]|Hereditary cancer-predisposing syndrome [RCV002376351] |
Chr16:23640992..23641149 [GRCh38]
Chr16:23652313..23652470 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.3:c.3180_3181insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002322738] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.2560A>G (p.Asn854Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455860] |
Chr16:23629230 [GRCh38]
Chr16:23640551 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2714A>G (p.Gln905Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002303931]|Hereditary cancer-predisposing syndrome [RCV002427767] |
Chr16:23626270 [GRCh38]
Chr16:23637591 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1454_1457del (p.Thr485fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002394664]|not provided [RCV003320274] |
Chr16:23635089..23635092 [GRCh38]
Chr16:23646410..23646413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.220A>G (p.Asn74Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002300447] |
Chr16:23636326 [GRCh38]
Chr16:23647647 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.886A>T (p.Met296Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607493]|Hereditary cancer-predisposing syndrome [RCV002375965] |
Chr16:23635660 [GRCh38]
Chr16:23646981 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2223C>T (p.Gly741=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428107] |
Chr16:23629931 [GRCh38]
Chr16:23641252 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2226C>A (p.Ser742=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428141] |
Chr16:23629928 [GRCh38]
Chr16:23641249 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003098785]|Hereditary cancer-predisposing syndrome [RCV002446269] |
Chr16:23629857 [GRCh38]
Chr16:23641178 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.71T>G (p.Leu24Trp) |
single nucleotide variant |
Familial cancer of breast [RCV003098501]|Hereditary cancer-predisposing syndrome [RCV002370856] |
Chr16:23638107 [GRCh38]
Chr16:23649428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.720T>C (p.Pro240=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370921] |
Chr16:23635826 [GRCh38]
Chr16:23647147 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2620G>T (p.Ala874Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003102037]|Hereditary cancer-predisposing syndrome [RCV002426404] |
Chr16:23626364 [GRCh38]
Chr16:23637685 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3189C>G (p.Ala1063=) |
single nucleotide variant |
Familial cancer of breast [RCV003607448]|Hereditary cancer-predisposing syndrome [RCV002322813] |
Chr16:23614016 [GRCh38]
Chr16:23625337 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2137C>A (p.Pro713Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430457] |
Chr16:23630017 [GRCh38]
Chr16:23641338 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.717A>G (p.Arg239=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378423] |
Chr16:23635829 [GRCh38]
Chr16:23647150 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3110T>A (p.Ile1037Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326090] |
Chr16:23621365 [GRCh38]
Chr16:23632686 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1618A>G (p.Asn540Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401006] |
Chr16:23634928 [GRCh38]
Chr16:23646249 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1981C>T (p.Pro661Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423689] |
Chr16:23630173 [GRCh38]
Chr16:23641494 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002457173] |
Chr16:23603570..23603572 [GRCh38]
Chr16:23614891..23614893 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2573T>A (p.Val858Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426023] |
Chr16:23629217 [GRCh38]
Chr16:23640538 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2582del (p.Glu860_Leu861insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002426070] |
Chr16:23629208 [GRCh38]
Chr16:23640529 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.153A>G (p.Thr51=) |
single nucleotide variant |
Familial cancer of breast [RCV003607517]|Hereditary cancer-predisposing syndrome [RCV002403115] |
Chr16:23637908 [GRCh38]
Chr16:23649229 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1790T>A (p.Met597Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404211] |
Chr16:23630364 [GRCh38]
Chr16:23641685 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.996C>A (p.Leu332=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382973] |
Chr16:23635550 [GRCh38]
Chr16:23646871 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2912_2913del (p.Gly971fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002439841] |
Chr16:23623052..23623053 [GRCh38]
Chr16:23634373..23634374 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2912G>A (p.Gly971Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439846] |
Chr16:23623053 [GRCh38]
Chr16:23634374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.402C>A (p.Asp134Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359536] |
Chr16:23636144 [GRCh38]
Chr16:23647465 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3464C>T (p.Ser1155Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457260] |
Chr16:23603556 [GRCh38]
Chr16:23614877 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2586+1_2586+2delinsTA |
indel |
Familial cancer of breast [RCV003101993]|Hereditary cancer-predisposing syndrome [RCV002426092] |
Chr16:23629202..23629203 [GRCh38]
Chr16:23640523..23640524 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3168A>G (p.Gln1056=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322586] |
Chr16:23614037 [GRCh38]
Chr16:23625358 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3170C>A (p.Ala1057Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322632] |
Chr16:23614035 [GRCh38]
Chr16:23625356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3084T>C (p.Gly1028=) |
single nucleotide variant |
Familial cancer of breast [RCV003500699]|Hereditary cancer-predisposing syndrome [RCV002325735] |
Chr16:23621391 [GRCh38]
Chr16:23632712 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003500713]|Hereditary cancer-predisposing syndrome [RCV002355558] |
Chr16:23635389 [GRCh38]
Chr16:23646710 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2495A>G (p.His832Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002295138]|Hereditary cancer-predisposing syndrome [RCV004047707] |
Chr16:23629659 [GRCh38]
Chr16:23640980 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1584A>G (p.Glu528=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398282] |
Chr16:23634962 [GRCh38]
Chr16:23646283 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1225T>G (p.Tyr409Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003103309]|Hereditary cancer-predisposing syndrome [RCV002364417] |
Chr16:23635321 [GRCh38]
Chr16:23646642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1359T>C (p.Leu453=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383431] |
Chr16:23635187 [GRCh38]
Chr16:23646508 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1890C>T (p.Cys630=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408019] |
Chr16:23630264 [GRCh38]
Chr16:23641585 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1067A>C (p.Lys356Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607532]|Hereditary cancer-predisposing syndrome [RCV002408064] |
Chr16:23635479 [GRCh38]
Chr16:23646800 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2084A>G (p.Lys695Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607536]|Hereditary cancer-predisposing syndrome [RCV002423920] |
Chr16:23630070 [GRCh38]
Chr16:23641391 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.934A>T (p.Ser312Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003774174]|Hereditary cancer-predisposing syndrome [RCV002371687] |
Chr16:23635612 [GRCh38]
Chr16:23646933 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2598T>C (p.Gly866=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426189] |
Chr16:23626386 [GRCh38]
Chr16:23637707 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1519G>A (p.Ala507Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392378] |
Chr16:23635027 [GRCh38]
Chr16:23646348 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.952del (p.Ser318fs) |
deletion |
Familial cancer of breast [RCV003454229]|Hereditary cancer-predisposing syndrome [RCV002374244] |
Chr16:23635594 [GRCh38]
Chr16:23646915 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2517T>C (p.Thr839=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433011] |
Chr16:23629273 [GRCh38]
Chr16:23640594 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3444T>G (p.Thr1148=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457152] |
Chr16:23603576 [GRCh38]
Chr16:23614897 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.591T>A (p.Thr197=) |
single nucleotide variant |
Familial cancer of breast [RCV003607471]|Hereditary cancer-predisposing syndrome [RCV002355808] |
Chr16:23635955 [GRCh38]
Chr16:23647276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1765A>C (p.Thr589Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401717] |
Chr16:23630389 [GRCh38]
Chr16:23641710 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3472C>T (p.His1158Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337507] |
Chr16:23603548 [GRCh38]
Chr16:23614869 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1894G>T (p.Glu632Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408081] |
Chr16:23630260 [GRCh38]
Chr16:23641581 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1077T>G (p.Ser359Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422057] |
Chr16:23635469 [GRCh38]
Chr16:23646790 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2089G>C (p.Gly697Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424000] |
Chr16:23630065 [GRCh38]
Chr16:23641386 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2294A>G (p.Asp765Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457502] |
Chr16:23629860 [GRCh38]
Chr16:23641181 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2604T>C (p.Cys868=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426283] |
Chr16:23626380 [GRCh38]
Chr16:23637701 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3105_3113+28dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002326017] |
Chr16:23621333..23621334 [GRCh38]
Chr16:23632654..23632655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1687A>G (p.Lys563Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003097115]|Hereditary cancer-predisposing syndrome [RCV002406105] |
Chr16:23630467 [GRCh38]
Chr16:23641788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3445G>A (p.Ala1149Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457159] |
Chr16:23603575 [GRCh38]
Chr16:23614896 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.103del (p.Leu35fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002389622] |
Chr16:23638075 [GRCh38]
Chr16:23649396 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3453_3459del (p.Pro1152fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002457216] |
Chr16:23603561..23603567 [GRCh38]
Chr16:23614882..23614888 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.86G>T (p.Ser29Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373420] |
Chr16:23638092 [GRCh38]
Chr16:23649413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2183del (p.Phe728fs) |
deletion |
Familial cancer of breast [RCV003454333]|Hereditary cancer-predisposing syndrome [RCV002425448] |
Chr16:23629971 [GRCh38]
Chr16:23641292 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1596A>T (p.Pro532=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398527] |
Chr16:23634950 [GRCh38]
Chr16:23646271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.318C>A (p.Ser106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322832] |
Chr16:23636228 [GRCh38]
Chr16:23647549 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.717A>T (p.Arg239Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003103370]|Hereditary cancer-predisposing syndrome [RCV002378426] |
Chr16:23635829 [GRCh38]
Chr16:23647150 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403446] |
Chr16:23634991 [GRCh38]
Chr16:23646312 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+1434_3201+1211dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002326110] |
Chr16:23612792..23612793 [GRCh38]
Chr16:23625463 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002326153] |
Chr16:23607922..23607924 [GRCh38]
Chr16:23619243..23619245 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2959C>G (p.Gln987Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441950] |
Chr16:23623006 [GRCh38]
Chr16:23634327 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.326C>T (p.Pro109Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325001] |
Chr16:23636220 [GRCh38]
Chr16:23647541 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3339G>T (p.Gly1113=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326554] |
Chr16:23607875 [GRCh38]
Chr16:23619196 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2561A>T (p.Asn854Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433395] |
Chr16:23629229 [GRCh38]
Chr16:23640550 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2563C>A (p.Leu855Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003108109]|Hereditary cancer-predisposing syndrome [RCV002433412] |
Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2073C>A (p.Ser691Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422175] |
Chr16:23630081 [GRCh38]
Chr16:23641402 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.237T>C (p.Tyr79=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457883] |
Chr16:23636309 [GRCh38]
Chr16:23647630 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1271C>G (p.Ala424Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378446] |
Chr16:23635275 [GRCh38]
Chr16:23646596 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.903del (p.Asp301fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002378465] |
Chr16:23635643 [GRCh38]
Chr16:23646964 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.235del (p.Tyr79fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002448518] |
Chr16:23636311 [GRCh38]
Chr16:23647632 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.517G>T (p.Gly173Trp) |
single nucleotide variant |
Familial cancer of breast [RCV002296529] |
Chr16:23636029 [GRCh38]
Chr16:23647350 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1695T>A (p.Ser565Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003500773]|Hereditary cancer-predisposing syndrome [RCV002406225] |
Chr16:23630459 [GRCh38]
Chr16:23641780 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1061del (p.Ser354fs) |
deletion |
Familial cancer of breast [RCV003100854]|Hereditary cancer-predisposing syndrome [RCV002407918] |
Chr16:23635485 [GRCh38]
Chr16:23646806 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1888T>C (p.Cys630Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407972] |
Chr16:23630266 [GRCh38]
Chr16:23641587 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.2455_2456insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002455447] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.3072del (p.Ala1025fs) |
deletion |
Familial cancer of breast [RCV003454097]|Hereditary cancer-predisposing syndrome [RCV002319789] |
Chr16:23621403 [GRCh38]
Chr16:23632724 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3073G>T (p.Ala1025Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319798] |
Chr16:23621402 [GRCh38]
Chr16:23632723 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2480C>G (p.Thr827Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443956] |
Chr16:23629674 [GRCh38]
Chr16:23640995 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1658_1660delinsCC (p.His553fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002403755] |
Chr16:23634886..23634888 [GRCh38]
Chr16:23646207..23646209 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2152A>G (p.Arg718Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003101089]|Hereditary cancer-predisposing syndrome [RCV002432492] |
Chr16:23630002 [GRCh38]
Chr16:23641323 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1807C>A (p.Leu603Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002301511] |
Chr16:23630347 [GRCh38]
Chr16:23641668 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3349A>G (p.Arg1117Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320952] |
Chr16:23607865 [GRCh38]
Chr16:23619186 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1761T>G (p.Ala587=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401676] |
Chr16:23630393 [GRCh38]
Chr16:23641714 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2546G>T (p.Ser849Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455809] |
Chr16:23629244 [GRCh38]
Chr16:23640565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1420A>G (p.Ser474Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391808] |
Chr16:23635126 [GRCh38]
Chr16:23646447 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.219A>C (p.Lys73Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003101122]|Hereditary cancer-predisposing syndrome [RCV002425646] |
Chr16:23636327 [GRCh38]
Chr16:23647648 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3282G>T (p.Val1094=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445775] |
Chr16:23607932 [GRCh38]
Chr16:23619253 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398735]|not specified [RCV003321942] |
Chr16:23634943 [GRCh38]
Chr16:23646264 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.703A>G (p.Thr235Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607481]|Hereditary cancer-predisposing syndrome [RCV002364948] |
Chr16:23635843 [GRCh38]
Chr16:23647164 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.705A>G (p.Thr235=) |
single nucleotide variant |
Familial cancer of breast [RCV003103359]|Hereditary cancer-predisposing syndrome [RCV002365008] |
Chr16:23635841 [GRCh38]
Chr16:23647162 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2742C>G (p.Phe914Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439261] |
Chr16:23626242 [GRCh38]
Chr16:23637563 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-3T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439324] |
Chr16:23624097 [GRCh38]
Chr16:23635418 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1488T>A (p.Asp496Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002303972]|Hereditary cancer-predisposing syndrome [RCV002391417] |
Chr16:23635058 [GRCh38]
Chr16:23646379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.394G>T (p.Val132Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003775774]|Hereditary cancer-predisposing syndrome [RCV002357613] |
Chr16:23636152 [GRCh38]
Chr16:23647473 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.51A>G (p.Leu17=) |
single nucleotide variant |
Familial cancer of breast [RCV003607467]|Hereditary cancer-predisposing syndrome [RCV002338598] |
Chr16:23638127 [GRCh38]
Chr16:23649448 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1365T>C (p.Asn455=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383585] |
Chr16:23635181 [GRCh38]
Chr16:23646502 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3504C>A (p.Asp1168Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459165] |
Chr16:23603516 [GRCh38]
Chr16:23614837 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1273G>C (p.Val425Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378893] |
Chr16:23635273 [GRCh38]
Chr16:23646594 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.129G>C (p.Lys43Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380766] |
Chr16:23637932 [GRCh38]
Chr16:23649253 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2164G>C (p.Asp722His) |
single nucleotide variant |
Familial cancer of breast [RCV003607540]|Hereditary cancer-predisposing syndrome [RCV002432636] |
Chr16:23629990 [GRCh38]
Chr16:23641311 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2818G>A (p.Glu940Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441771] |
Chr16:23624025 [GRCh38]
Chr16:23635346 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.294C>T (p.Ile98=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441845] |
Chr16:23636252 [GRCh38]
Chr16:23647573 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2022C>A (p.Asp674Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002295178] |
Chr16:23630132 [GRCh38]
Chr16:23641453 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3513G>A (p.Leu1171=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459240] |
Chr16:23603507 [GRCh38]
Chr16:23614828 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.606del (p.Lys203fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002358367] |
Chr16:23635940 [GRCh38]
Chr16:23647261 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2950C>T (p.Leu984Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003607556]|Hereditary cancer-predisposing syndrome [RCV002441868] |
Chr16:23623015 [GRCh38]
Chr16:23634336 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2958T>C (p.Asp986=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441946] |
Chr16:23623007 [GRCh38]
Chr16:23634328 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1289dup (p.Ser431fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002383256] |
Chr16:23635256..23635257 [GRCh38]
Chr16:23646577..23646578 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23614482)_(23652679_?)del |
deletion |
Hereditary breast ovarian cancer syndrome [RCV002302570] |
Chr16:23614482..23652679 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.631G>C (p.Glu211Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003098030]|not specified [RCV002302571] |
Chr16:23635915 [GRCh38]
Chr16:23647236 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2916G>C (p.Leu972=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439882] |
Chr16:23623049 [GRCh38]
Chr16:23634370 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3045T>C (p.Thr1015=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002444043] |
Chr16:23621430 [GRCh38]
Chr16:23632751 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.753_754del (p.Gln251fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002393884] |
Chr16:23635792..23635793 [GRCh38]
Chr16:23647113..23647114 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.847T>C (p.Phe283Leu) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315454]|Familial cancer of breast [RCV003103510]|Hereditary cancer-predisposing syndrome [RCV002447636] |
Chr16:23635699 [GRCh38]
Chr16:23647020 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.2913_2914insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002439851] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.507C>A (p.Leu169=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335871] |
Chr16:23636039 [GRCh38]
Chr16:23647360 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1969G>T (p.Glu657Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423443] |
Chr16:23630185 [GRCh38]
Chr16:23641506 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2261C>G (p.Thr754Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443747] |
Chr16:23629893 [GRCh38]
Chr16:23641214 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1644del (p.His549fs) |
deletion |
Familial cancer of breast [RCV003454266]|Hereditary cancer-predisposing syndrome [RCV002403601] |
Chr16:23634902 [GRCh38]
Chr16:23646223 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.653A>G (p.Glu218Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364306] |
Chr16:23635893 [GRCh38]
Chr16:23647214 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1702del (p.Gln568fs) |
deletion |
Familial cancer of breast [RCV003097140]|Hereditary cancer-predisposing syndrome [RCV002414706] |
Chr16:23630452 [GRCh38]
Chr16:23641773 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3:c.1246_1247insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002393995] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.306del (p.Pro104fs) |
deletion |
Familial cancer of breast [RCV003455516]|Hereditary cancer-predisposing syndrome [RCV002444322] |
Chr16:23636240 [GRCh38]
Chr16:23647561 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1660_1666del (p.Glu554fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002403821]|not provided [RCV004596546] |
Chr16:23634880..23634886 [GRCh38]
Chr16:23646201..23646207 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1735G>T (p.Ala579Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399241] |
Chr16:23630419 [GRCh38]
Chr16:23641740 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.252C>A (p.Ile84=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433121] |
Chr16:23636294 [GRCh38]
Chr16:23647615 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1823G>A (p.Ser608Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003100864]|Hereditary cancer-predisposing syndrome [RCV002410393] |
Chr16:23630331 [GRCh38]
Chr16:23641652 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.249del (p.His83fs) |
deletion |
Familial cancer of breast [RCV003455476]|Hereditary cancer-predisposing syndrome [RCV002431047] |
Chr16:23636297 [GRCh38]
Chr16:23647618 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1987C>A (p.Arg663Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423758] |
Chr16:23630167 [GRCh38]
Chr16:23641488 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1485A>G (p.Glu495=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389564] |
Chr16:23635061 [GRCh38]
Chr16:23646382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.658A>C (p.Ser220Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375797] |
Chr16:23635888 [GRCh38]
Chr16:23647209 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1824T>C (p.Ser608=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410414] |
Chr16:23630330 [GRCh38]
Chr16:23641651 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.437G>C (p.Arg146Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003500719]|Hereditary cancer-predisposing syndrome [RCV002333568] |
Chr16:23636109 [GRCh38]
Chr16:23647430 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.185del (p.Asp62fs) |
deletion |
Familial cancer of breast [RCV003100892]|Hereditary cancer-predisposing syndrome [RCV002414895] |
Chr16:23637876 [GRCh38]
Chr16:23649197 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1863del (p.Lys623fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002414959] |
Chr16:23630291 [GRCh38]
Chr16:23641612 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3351-2A>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV003156024]|Hereditary cancer-predisposing syndrome [RCV002325724] |
Chr16:23603671 [GRCh38]
Chr16:23614992 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3478T>G (p.Ser1160Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457343] |
Chr16:23603542 [GRCh38]
Chr16:23614863 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3063G>A (p.Gly1021=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002444244] |
Chr16:23621412 [GRCh38]
Chr16:23632733 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.935G>C (p.Ser312Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450094] |
Chr16:23635611 [GRCh38]
Chr16:23646932 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1613T>G (p.Ile538Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400944] |
Chr16:23634933 [GRCh38]
Chr16:23646254 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1233A>G (p.Arg411=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362316] |
Chr16:23635313 [GRCh38]
Chr16:23646634 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3093T>C (p.Ile1031=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325827] |
Chr16:23621382 [GRCh38]
Chr16:23632703 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.3:c.2098_2099insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002424133] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.890_891del (p.Thr297fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002376068] |
Chr16:23635655..23635656 [GRCh38]
Chr16:23646976..23646977 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1436A>T (p.Gln479Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607507]|Hereditary cancer-predisposing syndrome [RCV002394278] |
Chr16:23635110 [GRCh38]
Chr16:23646431 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.894C>A (p.Val298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376200] |
Chr16:23635652 [GRCh38]
Chr16:23646973 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1443T>A (p.Leu481=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394411] |
Chr16:23635103 [GRCh38]
Chr16:23646424 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.686C>T (p.Pro229Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362187] |
Chr16:23635860 [GRCh38]
Chr16:23647181 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3087T>C (p.Thr1029=) |
single nucleotide variant |
Familial cancer of breast [RCV003500700]|Hereditary cancer-predisposing syndrome [RCV002325751] |
Chr16:23621388 [GRCh38]
Chr16:23632709 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2365C>A (p.Leu789Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450137] |
Chr16:23629789 [GRCh38]
Chr16:23641110 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.519del (p.Arg175fs) |
deletion |
Familial cancer of breast [RCV003454166]|Hereditary cancer-predisposing syndrome [RCV002338569] |
Chr16:23636027 [GRCh38]
Chr16:23647348 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1707A>C (p.Lys569Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003097147]|Hereditary cancer-predisposing syndrome [RCV002414745] |
Chr16:23630447 [GRCh38]
Chr16:23641768 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.386C>T (p.Pro129Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355597] |
Chr16:23636160 [GRCh38]
Chr16:23647481 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1760C>T (p.Ala587Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401663] |
Chr16:23630394 [GRCh38]
Chr16:23641715 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.31del (p.Cys11fs) |
deletion |
Familial cancer of breast [RCV003454103]|Hereditary cancer-predisposing syndrome [RCV002322961] |
Chr16:23641127 [GRCh38]
Chr16:23652448 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1198G>A (p.Glu400Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344451] |
Chr16:23635348 [GRCh38]
Chr16:23646669 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1174_1189del (p.Glu392fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002333658] |
Chr16:23635357..23635372 [GRCh38]
Chr16:23646678..23646693 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3107T>G (p.Val1036Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003775044]|Hereditary cancer-predisposing syndrome [RCV002326042] |
Chr16:23621368 [GRCh38]
Chr16:23632689 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.821C>A (p.Thr274Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412508] |
Chr16:23635725 [GRCh38]
Chr16:23647046 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs) |
deletion |
Familial cancer of breast [RCV003455495]|Hereditary cancer-predisposing syndrome [RCV002441742] |
Chr16:23624021..23624028 [GRCh38]
Chr16:23635342..23635349 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.972T>C (p.Asn324=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376735] |
Chr16:23635574 [GRCh38]
Chr16:23646895 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.390C>T (p.His130=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373126] |
Chr16:23636156 [GRCh38]
Chr16:23647477 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+1G>C |
single nucleotide variant |
Familial cancer of breast [RCV003454100]|Hereditary cancer-predisposing syndrome [RCV002326111] |
Chr16:23621361 [GRCh38]
Chr16:23632682 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3290C>A (p.Pro1097His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326157] |
Chr16:23607924 [GRCh38]
Chr16:23619245 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1207C>T (p.Leu403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002347495] |
Chr16:23635339 [GRCh38]
Chr16:23646660 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2190C>A (p.Ile730=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425555] |
Chr16:23629964 [GRCh38]
Chr16:23641285 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003774319]|Hereditary cancer-predisposing syndrome [RCV002391722] |
Chr16:23635129 [GRCh38]
Chr16:23646450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322983] |
Chr16:23613999 [GRCh38]
Chr16:23625320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2157T>C (p.Pro719=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432544] |
Chr16:23629997 [GRCh38]
Chr16:23641318 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1845T>C (p.Pro615=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412925] |
Chr16:23630309 [GRCh38]
Chr16:23641630 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1649A>G (p.Lys550Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003100770]|Hereditary cancer-predisposing syndrome [RCV002395018]|not provided [RCV003443053] |
Chr16:23634897 [GRCh38]
Chr16:23646218 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.159A>T (p.Glu53Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398595] |
Chr16:23637902 [GRCh38]
Chr16:23649223 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2449A>C (p.Thr817Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450487] |
Chr16:23629705 [GRCh38]
Chr16:23641026 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2449A>G (p.Thr817Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003500792]|Hereditary cancer-predisposing syndrome [RCV002450489]|not provided [RCV003228082] |
Chr16:23629705 [GRCh38]
Chr16:23641026 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1836dup (p.Gln613fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002412734] |
Chr16:23630317..23630318 [GRCh38]
Chr16:23641638..23641639 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.534A>G (p.Glu178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346930] |
Chr16:23636012 [GRCh38]
Chr16:23647333 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1696C>A (p.Arg566Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414662] |
Chr16:23630458 [GRCh38]
Chr16:23641779 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2205dup (p.Ala736fs) |
duplication |
Familial cancer of breast [RCV003454335]|Hereditary cancer-predisposing syndrome [RCV002425785] |
Chr16:23629948..23629949 [GRCh38]
Chr16:23641269..23641270 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1585C>A (p.Pro529Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002294858] |
Chr16:23634961 [GRCh38]
Chr16:23646282 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.193C>T (p.Pro65Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003097369]|Hereditary cancer-predisposing syndrome [RCV002413161] |
Chr16:23637868 [GRCh38]
Chr16:23649189 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.270A>G (p.Glu90=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429069] |
Chr16:23636276 [GRCh38]
Chr16:23647597 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3494C>G (p.Ser1165Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459057] |
Chr16:23603526 [GRCh38]
Chr16:23614847 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.596T>G (p.Leu199Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356089] |
Chr16:23635950 [GRCh38]
Chr16:23647271 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1929T>G (p.Phe643Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410858] |
Chr16:23630225 [GRCh38]
Chr16:23641546 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3534A>T (p.Gly1178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459429] |
Chr16:23603486 [GRCh38]
Chr16:23614807 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1530A>G (p.Arg510=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402956] |
Chr16:23635016 [GRCh38]
Chr16:23646337 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1145G>A (p.Ser382Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459431] |
Chr16:23635401 [GRCh38]
Chr16:23646722 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2295C>G (p.Asp765Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446256] |
Chr16:23629859 [GRCh38]
Chr16:23641180 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.710T>A (p.Leu237Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002294885] |
Chr16:23635836 [GRCh38]
Chr16:23647157 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1602T>C (p.Ser534=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398724] |
Chr16:23634944 [GRCh38]
Chr16:23646265 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.166G>T (p.Asp56Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV002296663] |
Chr16:23637895 [GRCh38]
Chr16:23649216 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.768C>A (p.Ser256Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400514] |
Chr16:23635778 [GRCh38]
Chr16:23647099 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1205T>G (p.Leu402Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002345061] |
Chr16:23635341 [GRCh38]
Chr16:23646662 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3037A>C (p.Ile1013Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438160] |
Chr16:23621438 [GRCh38]
Chr16:23632759 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1339G>A (p.Ala447Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387654] |
Chr16:23635207 [GRCh38]
Chr16:23646528 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2181T>A (p.Ala727=) |
single nucleotide variant |
Familial cancer of breast [RCV003500787]|Hereditary cancer-predisposing syndrome [RCV002432915] |
Chr16:23629973 [GRCh38]
Chr16:23641294 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003454280]|Hereditary cancer-predisposing syndrome [RCV002399116] |
Chr16:23630429 [GRCh38]
Chr16:23641750 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2514G>C (p.Gln838His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432971] |
Chr16:23629640 [GRCh38]
Chr16:23640961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1278G>T (p.Glu426Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374131] |
Chr16:23635268 [GRCh38]
Chr16:23646589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3134T>C (p.Leu1045Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320629] |
Chr16:23614071 [GRCh38]
Chr16:23625392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2599T>C (p.Ser867Pro) |
single nucleotide variant |
Familial cancer of breast [RCV004571152]|Hereditary cancer-predisposing syndrome [RCV002426195] |
Chr16:23626385 [GRCh38]
Chr16:23637706 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2308G>T (p.Ala770Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446407] |
Chr16:23629846 [GRCh38]
Chr16:23641167 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2173_2174dup (p.Pro726fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002432768] |
Chr16:23629979..23629980 [GRCh38]
Chr16:23641300..23641301 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.72G>T (p.Leu24Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003500741]|Hereditary cancer-predisposing syndrome [RCV002382782] |
Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1772C>T (p.Pro591Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002302287] |
Chr16:23630382 [GRCh38]
Chr16:23641703 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2458G>C (p.Glu820Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455463] |
Chr16:23629696 [GRCh38]
Chr16:23641017 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1353A>C (p.Leu451Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387988] |
Chr16:23635193 [GRCh38]
Chr16:23646514 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2090G>A (p.Gly697Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002297952] |
Chr16:23630064 [GRCh38]
Chr16:23641385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002443356] |
Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1381A>C (p.Ser461Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607503]|Hereditary cancer-predisposing syndrome [RCV002381165] |
Chr16:23635165 [GRCh38]
Chr16:23646486 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1686G>T (p.Gly562=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406096] |
Chr16:23630468 [GRCh38]
Chr16:23641789 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1250C>G (p.Ser417Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409851] |
Chr16:23635296 [GRCh38]
Chr16:23646617 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1802_1809dup (p.Leu604fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002410015] |
Chr16:23630344..23630345 [GRCh38]
Chr16:23641665..23641666 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2071A>T (p.Ser691Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422146] |
Chr16:23630083 [GRCh38]
Chr16:23641404 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3150C>T (p.His1050=) |
single nucleotide variant |
Familial cancer of breast [RCV003607445]|Hereditary cancer-predisposing syndrome [RCV002320820] |
Chr16:23614055 [GRCh38]
Chr16:23625376 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.259C>T (p.His87Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426203] |
Chr16:23636287 [GRCh38]
Chr16:23647608 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2310del (p.Ser771fs) |
deletion |
Familial cancer of breast [RCV004062649]|Hereditary cancer-predisposing syndrome [RCV002446436] |
Chr16:23629844 [GRCh38]
Chr16:23641165 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.4G>A (p.Asp2Asn) |
single nucleotide variant |
Familial cancer of breast [RCV004572294]|Hereditary cancer-predisposing syndrome [RCV002343054] |
Chr16:23641154 [GRCh38]
Chr16:23652475 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+2C>T |
single nucleotide variant |
Familial cancer of breast [RCV004047797]|Hereditary cancer-predisposing syndrome [RCV002320978] |
Chr16:23607862 [GRCh38]
Chr16:23619183 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.517_523delinsAAAGGACAG (p.Gly173fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002338393] |
Chr16:23636023..23636029 [GRCh38]
Chr16:23647344..23647350 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2430_2432del (p.Pro812del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002459879] |
Chr16:23629722..23629724 [GRCh38]
Chr16:23641043..23641045 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.942A>T (p.Gln314His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443413] |
Chr16:23635604 [GRCh38]
Chr16:23646925 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1906G>A (p.Glu636Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002300435] |
Chr16:23630248 [GRCh38]
Chr16:23641569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs) |
deletion |
Familial cancer of breast [RCV003454263]|Hereditary cancer-predisposing syndrome [RCV002403550] |
Chr16:23634877..23634905 [GRCh38]
Chr16:23646198..23646226 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3249G>A (p.Glu1083=) |
single nucleotide variant |
Familial cancer of breast [RCV003099331]|Hereditary cancer-predisposing syndrome [RCV002324854] |
Chr16:23607965 [GRCh38]
Chr16:23619286 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1113A>G (p.Glu371=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439422] |
Chr16:23635433 [GRCh38]
Chr16:23646754 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2757_2774dup (p.Val925_Pro926insLeuGlnIleValProVal) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002439423] |
Chr16:23624068..23624069 [GRCh38]
Chr16:23635389..23635390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+3A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432958] |
Chr16:23629637 [GRCh38]
Chr16:23640958 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2779G>C (p.Asp927His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439699] |
Chr16:23624064 [GRCh38]
Chr16:23635385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2450C>G (p.Thr817Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430694] |
Chr16:23629704 [GRCh38]
Chr16:23641025 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1234del (p.Thr412fs) |
deletion |
Familial cancer of breast [RCV003098435]|Hereditary cancer-predisposing syndrome [RCV002364645] |
Chr16:23635312 [GRCh38]
Chr16:23646633 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1400del (p.Gly467fs) |
deletion |
Familial cancer of breast [RCV003103672]|Hereditary cancer-predisposing syndrome [RCV002389269] |
Chr16:23635146 [GRCh38]
Chr16:23646467 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.907C>A (p.Leu303Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378574] |
Chr16:23635639 [GRCh38]
Chr16:23646960 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1460T>G (p.Val487Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396728] |
Chr16:23635086 [GRCh38]
Chr16:23646407 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3449T>C (p.Leu1150Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460203] |
Chr16:23603571 [GRCh38]
Chr16:23614892 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2255G>T (p.Gly752Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443623] |
Chr16:23629899 [GRCh38]
Chr16:23641220 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2139T>A (p.Pro713=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430489] |
Chr16:23630015 [GRCh38]
Chr16:23641336 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2062A>C (p.Asn688His) |
single nucleotide variant |
not provided [RCV002488671] |
Chr16:23630092 [GRCh38]
Chr16:23641413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.3:c.2835_3113del |
deletion |
not provided [RCV002481097] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.1385A>T (p.Glu462Val) |
single nucleotide variant |
Familial cancer of breast [RCV002839157] |
Chr16:23635161 [GRCh38]
Chr16:23646482 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.580_584del (p.Glu194fs) |
deletion |
Familial cancer of breast [RCV002816518] |
Chr16:23635962..23635966 [GRCh38]
Chr16:23647283..23647287 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.116A>G (p.Gln39Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002512447] |
Chr16:23637945 [GRCh38]
Chr16:23649266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1793T>C (p.Leu598Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003033478] |
Chr16:23630361 [GRCh38]
Chr16:23641682 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3483T>A (p.Phe1161Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002681790] |
Chr16:23603537 [GRCh38]
Chr16:23614858 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs) |
indel |
Familial cancer of breast [RCV002750975] |
Chr16:23629722..23629729 [GRCh38]
Chr16:23641043..23641050 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2379C>G (p.Gly793=) |
single nucleotide variant |
Familial cancer of breast [RCV003016025] |
Chr16:23629775 [GRCh38]
Chr16:23641096 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2278del (p.Ala761fs) |
deletion |
Familial cancer of breast [RCV002815557] |
Chr16:23629876 [GRCh38]
Chr16:23641197 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3463T>A (p.Ser1155Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002815576] |
Chr16:23603557 [GRCh38]
Chr16:23614878 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1133del (p.Pro378fs) |
deletion |
Familial cancer of breast [RCV002815169] |
Chr16:23635413 [GRCh38]
Chr16:23646734 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.782A>G (p.His261Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002815748] |
Chr16:23635764 [GRCh38]
Chr16:23647085 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2795T>G (p.Val932Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002839532] |
Chr16:23624048 [GRCh38]
Chr16:23635369 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3150_3151del (p.His1050_Ile1051insTer) |
microsatellite |
Familial cancer of breast [RCV002881325] |
Chr16:23614054..23614055 [GRCh38]
Chr16:23625375..23625376 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3057C>G (p.Val1019=) |
single nucleotide variant |
Familial cancer of breast [RCV002816701] |
Chr16:23621418 [GRCh38]
Chr16:23632739 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2512_2513del (p.Gln838fs) |
deletion |
Familial cancer of breast [RCV002858413] |
Chr16:23629641..23629642 [GRCh38]
Chr16:23640962..23640963 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3202-15_3202-13del |
deletion |
Familial cancer of breast [RCV002993697]|not provided [RCV004765616] |
Chr16:23608025..23608027 [GRCh38]
Chr16:23619346..23619348 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1547G>T (p.Arg516Ile) |
single nucleotide variant |
Familial cancer of breast [RCV002838870]|Hereditary cancer-predisposing syndrome [RCV004064951] |
Chr16:23634999 [GRCh38]
Chr16:23646320 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.482A>T (p.Asp161Val) |
single nucleotide variant |
Familial cancer of breast [RCV002948016] |
Chr16:23636064 [GRCh38]
Chr16:23647385 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1893A>G (p.Ser631=) |
single nucleotide variant |
Familial cancer of breast [RCV003035225] |
Chr16:23630261 [GRCh38]
Chr16:23641582 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1149G>T (p.Leu383=) |
single nucleotide variant |
Familial cancer of breast [RCV002863593] |
Chr16:23635397 [GRCh38]
Chr16:23646718 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1131A>G (p.Gln377=) |
single nucleotide variant |
Familial cancer of breast [RCV002690291] |
Chr16:23635415 [GRCh38]
Chr16:23646736 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.349C>G (p.Pro117Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003017028] |
Chr16:23636197 [GRCh38]
Chr16:23647518 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2297del (p.Asp765_Ser766insTer) |
deletion |
Familial cancer of breast [RCV003015728] |
Chr16:23629857 [GRCh38]
Chr16:23641178 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.687A>G (p.Pro229=) |
single nucleotide variant |
Familial cancer of breast [RCV002861790]|Hereditary cancer-predisposing syndrome [RCV004064970] |
Chr16:23635859 [GRCh38]
Chr16:23647180 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3532G>A (p.Gly1178Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002947141] |
Chr16:23603488 [GRCh38]
Chr16:23614809 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002947546]|Hereditary cancer-predisposing syndrome [RCV004067106] |
Chr16:23635056 [GRCh38]
Chr16:23646377 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2693G>T (p.Trp898Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002843237] |
Chr16:23626291 [GRCh38]
Chr16:23637612 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-14T>C |
single nucleotide variant |
Familial cancer of breast [RCV003013876] |
Chr16:23621492 [GRCh38]
Chr16:23632813 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1961T>C (p.Ile654Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002815165] |
Chr16:23630193 [GRCh38]
Chr16:23641514 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1101A>G (p.Glu367=) |
single nucleotide variant |
Familial cancer of breast [RCV002837472] |
Chr16:23635445 [GRCh38]
Chr16:23646766 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1291A>G (p.Ser431Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002815276] |
Chr16:23635255 [GRCh38]
Chr16:23646576 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3427C>T (p.Leu1143Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002776172] |
Chr16:23603593 [GRCh38]
Chr16:23614914 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-239A>T |
single nucleotide variant |
Familial cancer of breast [RCV003075381]|Hereditary cancer-predisposing syndrome [RCV004071807] |
Chr16:23614330 [GRCh38]
Chr16:23625651 [GRCh37]
Chr16:16p12.2 |
pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.105T>C (p.Leu35=) |
single nucleotide variant |
Familial cancer of breast [RCV002726288] |
Chr16:23638073 [GRCh38]
Chr16:23649394 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-6T>A |
single nucleotide variant |
Familial cancer of breast [RCV002838621] |
Chr16:23614097 [GRCh38]
Chr16:23625418 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2335T>C (p.Ser779Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003013521] |
Chr16:23629819 [GRCh38]
Chr16:23641140 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3416T>C (p.Ile1139Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002996800] |
Chr16:23603604 [GRCh38]
Chr16:23614925 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1249T>C (p.Ser417Pro) |
single nucleotide variant |
not provided [RCV002462779] |
Chr16:23635297 [GRCh38]
Chr16:23646618 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684+15G>A |
single nucleotide variant |
Familial cancer of breast [RCV002618265] |
Chr16:23634847 [GRCh38]
Chr16:23646168 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2157T>A (p.Pro719=) |
single nucleotide variant |
Familial cancer of breast [RCV002903153] |
Chr16:23629997 [GRCh38]
Chr16:23641318 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.855A>C (p.Ser285=) |
single nucleotide variant |
Familial cancer of breast [RCV002907975] |
Chr16:23635691 [GRCh38]
Chr16:23647012 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.520A>C (p.Lys174Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003073889]|Hereditary cancer-predisposing syndrome [RCV003367963] |
Chr16:23636026 [GRCh38]
Chr16:23647347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+18A>G |
single nucleotide variant |
Familial cancer of breast [RCV003016821] |
Chr16:23637832 [GRCh38]
Chr16:23649153 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3289C>A (p.Pro1097Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003074771]|Hereditary cancer-predisposing syndrome [RCV004071701] |
Chr16:23607925 [GRCh38]
Chr16:23619246 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.825T>G (p.Thr275=) |
single nucleotide variant |
Familial cancer of breast [RCV002881727] |
Chr16:23635721 [GRCh38]
Chr16:23647042 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3201+18G>A |
single nucleotide variant |
Familial cancer of breast [RCV003014110] |
Chr16:23613986 [GRCh38]
Chr16:23625307 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2528A>G (p.Glu843Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002968030]|Hereditary cancer-predisposing syndrome [RCV003170776] |
Chr16:23629262 [GRCh38]
Chr16:23640583 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1677A>G (p.Gln559=) |
single nucleotide variant |
Familial cancer of breast [RCV002996929] |
Chr16:23634869 [GRCh38]
Chr16:23646190 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2002A>G (p.Met668Val) |
single nucleotide variant |
Familial cancer of breast [RCV002927385]|Hereditary cancer-predisposing syndrome [RCV003585318] |
Chr16:23630152 [GRCh38]
Chr16:23641473 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3375T>A (p.Asp1125Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003039218]|Hereditary cancer-predisposing syndrome [RCV003170913] |
Chr16:23603645 [GRCh38]
Chr16:23614966 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-6A>C |
single nucleotide variant |
Familial cancer of breast [RCV002870895] |
Chr16:23608018 [GRCh38]
Chr16:23619339 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1526G>T (p.Gly509Val) |
single nucleotide variant |
Familial cancer of breast [RCV003021708]|Hereditary cancer-predisposing syndrome [RCV003367948] |
Chr16:23635020 [GRCh38]
Chr16:23646341 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.204A>G (p.Lys68=) |
single nucleotide variant |
Familial cancer of breast [RCV002889617]|not provided [RCV003409943] |
Chr16:23637857 [GRCh38]
Chr16:23649178 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-13T>C |
single nucleotide variant |
Familial cancer of breast [RCV002640438] |
Chr16:23624107 [GRCh38]
Chr16:23635428 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.679G>T (p.Ala227Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002927936] |
Chr16:23635867 [GRCh38]
Chr16:23647188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3242_3245del (p.Glu1081fs) |
microsatellite |
Familial cancer of breast [RCV002796291] |
Chr16:23607969..23607972 [GRCh38]
Chr16:23619290..23619293 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.182A>T (p.Gln61Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002785728] |
Chr16:23637879 [GRCh38]
Chr16:23649200 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3183C>A (p.His1061Gln) |
single nucleotide variant |
Familial cancer of breast [RCV002785913] |
Chr16:23614022 [GRCh38]
Chr16:23625343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+18T>C |
single nucleotide variant |
Familial cancer of breast [RCV002912771] |
Chr16:23622951 [GRCh38]
Chr16:23634272 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.510A>T (p.Arg170Ser) |
single nucleotide variant |
Familial cancer of breast [RCV002948944] |
Chr16:23636036 [GRCh38]
Chr16:23647357 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1510G>T (p.Val504Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003019029]|Hereditary cancer-predisposing syndrome [RCV004068579] |
Chr16:23635036 [GRCh38]
Chr16:23646357 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1103_1110del (p.Asn368fs) |
deletion |
Familial cancer of breast [RCV002923267] |
Chr16:23635436..23635443 [GRCh38]
Chr16:23646757..23646764 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3293_3296dup (p.Thr1100fs) |
duplication |
Familial cancer of breast [RCV002848253] |
Chr16:23607917..23607918 [GRCh38]
Chr16:23619238..23619239 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2514+15C>G |
single nucleotide variant |
Familial cancer of breast [RCV003002993] |
Chr16:23629625 [GRCh38]
Chr16:23640946 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+6C>A |
single nucleotide variant |
Familial cancer of breast [RCV003055643] |
Chr16:23621356 [GRCh38]
Chr16:23632677 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1520C>T (p.Ala507Val) |
single nucleotide variant |
Familial cancer of breast [RCV002953593] |
Chr16:23635026 [GRCh38]
Chr16:23646347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2476_2477dup (p.Asn826fs) |
duplication |
Familial cancer of breast [RCV002867996] |
Chr16:23629676..23629677 [GRCh38]
Chr16:23640997..23640998 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1343del (p.Ser448fs) |
deletion |
Familial cancer of breast [RCV002796347] |
Chr16:23635203 [GRCh38]
Chr16:23646524 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2671T>C (p.Cys891Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002909737] |
Chr16:23626313 [GRCh38]
Chr16:23637634 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3354C>T (p.Phe1118=) |
single nucleotide variant |
Familial cancer of breast [RCV002781345]|Hereditary cancer-predisposing syndrome [RCV003367882] |
Chr16:23603666 [GRCh38]
Chr16:23614987 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1966C>G (p.Pro656Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003019001] |
Chr16:23630188 [GRCh38]
Chr16:23641509 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs) |
duplication |
Familial cancer of breast [RCV003020548] |
Chr16:23607907..23607908 [GRCh38]
Chr16:23619228..23619229 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.328G>C (p.Gly110Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002796132] |
Chr16:23636218 [GRCh38]
Chr16:23647539 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-10C>G |
single nucleotide variant |
Familial cancer of breast [RCV002999773] |
Chr16:23608022 [GRCh38]
Chr16:23619343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2916G>A (p.Leu972=) |
single nucleotide variant |
Familial cancer of breast [RCV002824147] |
Chr16:23623049 [GRCh38]
Chr16:23634370 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1881del (p.Lys628fs) |
deletion |
Familial cancer of breast [RCV002847495] |
Chr16:23630273 [GRCh38]
Chr16:23641594 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(23614991_23619184)_(23625413_23632682)del |
deletion |
Hereditary breast ovarian cancer syndrome [RCV002510454] |
Chr16:23619184..23625413 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3202-9C>A |
single nucleotide variant |
Familial cancer of breast [RCV002736157] |
Chr16:23608021 [GRCh38]
Chr16:23619342 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3144G>A (p.Lys1048=) |
single nucleotide variant |
Familial cancer of breast [RCV002889297] |
Chr16:23614061 [GRCh38]
Chr16:23625382 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.926T>C (p.Ile309Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003054013]|Hereditary cancer-predisposing syndrome [RCV004700899] |
Chr16:23635620 [GRCh38]
Chr16:23646941 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.855A>G (p.Ser285=) |
single nucleotide variant |
Familial cancer of breast [RCV002824091]|Hereditary cancer-predisposing syndrome [RCV003367890] |
Chr16:23635691 [GRCh38]
Chr16:23647012 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1723del (p.Trp575fs) |
deletion |
Familial cancer of breast [RCV002909337] |
Chr16:23630431 [GRCh38]
Chr16:23641752 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.48+9G>T |
single nucleotide variant |
Familial cancer of breast [RCV002870848] |
Chr16:23641101 [GRCh38]
Chr16:23652422 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.156A>G (p.Val52=) |
single nucleotide variant |
Familial cancer of breast [RCV002820736] |
Chr16:23637905 [GRCh38]
Chr16:23649226 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3402T>C (p.Ser1134=) |
single nucleotide variant |
Familial cancer of breast [RCV002866752] |
Chr16:23603618 [GRCh38]
Chr16:23614939 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2281_2287del (p.Leu760_Ala761insTer) |
deletion |
Familial cancer of breast [RCV002848437] |
Chr16:23629867..23629873 [GRCh38]
Chr16:23641188..23641194 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.408T>C (p.Ser136=) |
single nucleotide variant |
Familial cancer of breast [RCV002659476] |
Chr16:23636138 [GRCh38]
Chr16:23647459 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.91A>T (p.Thr31Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003054911] |
Chr16:23638087 [GRCh38]
Chr16:23649408 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.513G>C (p.Leu171Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003018110]|Hereditary cancer-predisposing syndrome [RCV003585325] |
Chr16:23636033 [GRCh38]
Chr16:23647354 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.695G>C (p.Gly232Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002820500] |
Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2043del (p.Lys681fs) |
deletion |
Familial cancer of breast [RCV002866494] |
Chr16:23630111 [GRCh38]
Chr16:23641432 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2529G>C (p.Glu843Asp) |
single nucleotide variant |
Familial cancer of breast [RCV002761156] |
Chr16:23629261 [GRCh38]
Chr16:23640582 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.885_886del (p.Lys295fs) |
deletion |
Familial cancer of breast [RCV002848328] |
Chr16:23635660..23635661 [GRCh38]
Chr16:23646981..23646982 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1684+2T>A |
single nucleotide variant |
Familial cancer of breast [RCV002913112]|Hereditary cancer-predisposing syndrome [RCV003367903] |
Chr16:23634860 [GRCh38]
Chr16:23646181 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.1684+20A>G |
single nucleotide variant |
Familial cancer of breast [RCV002913878] |
Chr16:23634842 [GRCh38]
Chr16:23646163 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.587G>T (p.Arg196Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003017978]|Hereditary cancer-predisposing syndrome [RCV003274135] |
Chr16:23635959 [GRCh38]
Chr16:23647280 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-19G>C |
single nucleotide variant |
Familial cancer of breast [RCV003036650] |
Chr16:23624113 [GRCh38]
Chr16:23635434 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-14T>C |
single nucleotide variant |
Familial cancer of breast [RCV002847376] |
Chr16:23614105 [GRCh38]
Chr16:23625426 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2544T>A (p.Asp848Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003038146] |
Chr16:23629246 [GRCh38]
Chr16:23640567 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2042A>G (p.Lys681Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002824871] |
Chr16:23630112 [GRCh38]
Chr16:23641433 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1515C>G (p.Ala505=) |
single nucleotide variant |
Familial cancer of breast [RCV002910208] |
Chr16:23635031 [GRCh38]
Chr16:23646352 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2997-20dup |
duplication |
Familial cancer of breast [RCV002639911] |
Chr16:23621497..23621498 [GRCh38]
Chr16:23632818..23632819 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1279G>C (p.Ala427Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003053610] |
Chr16:23635267 [GRCh38]
Chr16:23646588 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1344T>C (p.Ser448=) |
single nucleotide variant |
Familial cancer of breast [RCV002886240] |
Chr16:23635202 [GRCh38]
Chr16:23646523 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1784A>T (p.Asp595Val) |
single nucleotide variant |
Familial cancer of breast [RCV003018317] |
Chr16:23630370 [GRCh38]
Chr16:23641691 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-13G>A |
single nucleotide variant |
Familial cancer of breast [RCV003054556] |
Chr16:23621491 [GRCh38]
Chr16:23632812 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-15T>C |
single nucleotide variant |
Familial cancer of breast [RCV003080810] |
Chr16:23626412 [GRCh38]
Chr16:23637733 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.448C>A (p.Gln150Lys) |
single nucleotide variant |
Familial cancer of breast [RCV002846312] |
Chr16:23636098 [GRCh38]
Chr16:23647419 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2735_2740del (p.Trp912_His913del) |
deletion |
Familial cancer of breast [RCV002867901] |
Chr16:23626244..23626249 [GRCh38]
Chr16:23637565..23637570 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003019518] |
Chr16:23635531 [GRCh38]
Chr16:23646852 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-10G>C |
single nucleotide variant |
Familial cancer of breast [RCV003019998]|Hereditary cancer-predisposing syndrome [RCV003585335] |
Chr16:23614101 [GRCh38]
Chr16:23625422 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1100A>G (p.Glu367Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002923269] |
Chr16:23635446 [GRCh38]
Chr16:23646767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.719C>A (p.Pro240His) |
single nucleotide variant |
Familial cancer of breast [RCV002999770] |
Chr16:23635827 [GRCh38]
Chr16:23647148 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+15T>A |
single nucleotide variant |
Familial cancer of breast [RCV002711725] |
Chr16:23638055 [GRCh38]
Chr16:23649376 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.911T>G (p.Leu304Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003022932] |
Chr16:23635635 [GRCh38]
Chr16:23646956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+19G>A |
single nucleotide variant |
Familial cancer of breast [RCV002851033] |
Chr16:23629621 [GRCh38]
Chr16:23640942 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-11G>T |
single nucleotide variant |
Familial cancer of breast [RCV003026134] |
Chr16:23637963 [GRCh38]
Chr16:23649284 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002958045]|Hereditary cancer-predisposing syndrome [RCV003367916] |
Chr16:23629212 [GRCh38]
Chr16:23640533 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.608A>C (p.Lys203Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002791592] |
Chr16:23635938 [GRCh38]
Chr16:23647259 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1909C>A (p.Pro637Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003026006] |
Chr16:23630245 [GRCh38]
Chr16:23641566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3533G>C (p.Gly1178Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002829764] |
Chr16:23603487 [GRCh38]
Chr16:23614808 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1851A>G (p.Glu617=) |
single nucleotide variant |
Familial cancer of breast [RCV003024129] |
Chr16:23630303 [GRCh38]
Chr16:23641624 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.174G>C (p.Leu58Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002805786] |
Chr16:23637887 [GRCh38]
Chr16:23649208 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2548A>G (p.Ile850Val) |
single nucleotide variant |
Familial cancer of breast [RCV002917480]|Hereditary cancer-predisposing syndrome [RCV003585313] |
Chr16:23629242 [GRCh38]
Chr16:23640563 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1397_1399delinsT (p.Ser466fs) |
indel |
Familial cancer of breast [RCV003006079] |
Chr16:23635147..23635149 [GRCh38]
Chr16:23646468..23646470 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2406T>C (p.Cys802=) |
single nucleotide variant |
Familial cancer of breast [RCV002894365] |
Chr16:23629748 [GRCh38]
Chr16:23641069 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.399T>C (p.Ser133=) |
single nucleotide variant |
Familial cancer of breast [RCV002851544] |
Chr16:23636147 [GRCh38]
Chr16:23647468 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1592T>G (p.Leu531Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004176659] |
Chr16:23634954 [GRCh38]
Chr16:23646275 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002954240] |
Chr16:23634997 [GRCh38]
Chr16:23646318 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3114-12T>A |
single nucleotide variant |
Familial cancer of breast [RCV002801464] |
Chr16:23614103 [GRCh38]
Chr16:23625424 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+17C>T |
single nucleotide variant |
Familial cancer of breast [RCV002624805] |
Chr16:23638053 [GRCh38]
Chr16:23649374 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1627_1639delinsTT (p.Lys543fs) |
indel |
Familial cancer of breast [RCV003023464] |
Chr16:23634907..23634919 [GRCh38]
Chr16:23646228..23646240 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2766A>C (p.Ile922=) |
single nucleotide variant |
Familial cancer of breast [RCV002851142] |
Chr16:23624077 [GRCh38]
Chr16:23635398 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.177T>A (p.Ser59=) |
single nucleotide variant |
Familial cancer of breast [RCV003024096] |
Chr16:23637884 [GRCh38]
Chr16:23649205 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3272dup (p.Leu1092fs) |
duplication |
Familial cancer of breast [RCV003023187] |
Chr16:23607941..23607942 [GRCh38]
Chr16:23619262..23619263 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1994A>G (p.Asp665Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002829086] |
Chr16:23630160 [GRCh38]
Chr16:23641481 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1358T>C (p.Leu453Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003057181] |
Chr16:23635188 [GRCh38]
Chr16:23646509 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.779dup (p.His261fs) |
duplication |
Familial cancer of breast [RCV002893935] |
Chr16:23635766..23635767 [GRCh38]
Chr16:23647087..23647088 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2586+18T>C |
single nucleotide variant |
Familial cancer of breast [RCV003057211] |
Chr16:23629186 [GRCh38]
Chr16:23640507 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.715A>T (p.Arg239Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002872244] |
Chr16:23635831 [GRCh38]
Chr16:23647152 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.686C>G (p.Pro229Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002954259] |
Chr16:23635860 [GRCh38]
Chr16:23647181 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2108T>C (p.Leu703Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003022313]|Hereditary cancer-predisposing syndrome [RCV003170890] |
Chr16:23630046 [GRCh38]
Chr16:23641367 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351G>C (p.Arg1117Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003040076] |
Chr16:23603669 [GRCh38]
Chr16:23614990 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1769C>A (p.Ala590Asp) |
single nucleotide variant |
not provided [RCV002508699] |
Chr16:23630385 [GRCh38]
Chr16:23641706 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.671C>T (p.Pro224Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003042062] |
Chr16:23635875 [GRCh38]
Chr16:23647196 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.962del (p.Asn320_Leu321insTer) |
deletion |
Familial cancer of breast [RCV002851861] |
Chr16:23635584 [GRCh38]
Chr16:23646905 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1684+17T>G |
single nucleotide variant |
Familial cancer of breast [RCV003007605] |
Chr16:23634845 [GRCh38]
Chr16:23646166 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2214C>A (p.Gly738=) |
single nucleotide variant |
Familial cancer of breast [RCV002894836] |
Chr16:23629940 [GRCh38]
Chr16:23641261 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2749-17T>G |
single nucleotide variant |
Familial cancer of breast [RCV002872414] |
Chr16:23624111 [GRCh38]
Chr16:23635432 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.402C>T (p.Asp134=) |
single nucleotide variant |
Familial cancer of breast [RCV002851229] |
Chr16:23636144 [GRCh38]
Chr16:23647465 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1207C>G (p.Leu403Val) |
single nucleotide variant |
Familial cancer of breast [RCV003024144] |
Chr16:23635339 [GRCh38]
Chr16:23646660 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.599dup (p.Leu200fs) |
duplication |
Familial cancer of breast [RCV002852402] |
Chr16:23635946..23635947 [GRCh38]
Chr16:23647267..23647268 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003023810]|Hereditary cancer-predisposing syndrome [RCV004654098] |
Chr16:23629235 [GRCh38]
Chr16:23640556 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.981T>G (p.Cys327Trp) |
single nucleotide variant |
not provided [RCV002508471] |
Chr16:23635565 [GRCh38]
Chr16:23646886 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1938A>G (p.Arg646=) |
single nucleotide variant |
Familial cancer of breast [RCV003059179] |
Chr16:23630216 [GRCh38]
Chr16:23641537 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2579A>G (p.Glu860Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003022931] |
Chr16:23629211 [GRCh38]
Chr16:23640532 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1832A>G (p.Asp611Gly) |
single nucleotide variant |
Familial cancer of breast [RCV002710570] |
Chr16:23630322 [GRCh38]
Chr16:23641643 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211G>A (p.Glu71Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003022601] |
Chr16:23637850 [GRCh38]
Chr16:23649171 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3139A>G (p.Lys1047Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002953855] |
Chr16:23614066 [GRCh38]
Chr16:23625387 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.657C>T (p.Asp219=) |
single nucleotide variant |
Familial cancer of breast [RCV002982470]|Hereditary cancer-predisposing syndrome [RCV003585323] |
Chr16:23635889 [GRCh38]
Chr16:23647210 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1017A>C (p.Ala339=) |
single nucleotide variant |
Familial cancer of breast [RCV003005552] |
Chr16:23635529 [GRCh38]
Chr16:23646850 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1806ACT[3] (p.Leu604_Ser605insLeu) |
microsatellite |
Familial cancer of breast [RCV002877590] |
Chr16:23630342..23630343 [GRCh38]
Chr16:23641663..23641664 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003047180] |
Chr16:23621471 [GRCh38]
Chr16:23632792 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2515A>G (p.Thr839Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002810849] |
Chr16:23629275 [GRCh38]
Chr16:23640596 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1314A>C (p.Lys438Asn) |
single nucleotide variant |
Familial cancer of breast [RCV002833677] |
Chr16:23635232 [GRCh38]
Chr16:23646553 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+11C>T |
single nucleotide variant |
Familial cancer of breast [RCV003060906] |
Chr16:23622958 [GRCh38]
Chr16:23634279 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2281G>A (p.Ala761Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003087505] |
Chr16:23629873 [GRCh38]
Chr16:23641194 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1028A>G (p.Gln343Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002811953] |
Chr16:23635518 [GRCh38]
Chr16:23646839 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-19G>A |
single nucleotide variant |
Familial cancer of breast [RCV002630826] |
Chr16:23624113 [GRCh38]
Chr16:23635434 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.174G>T (p.Leu58Phe) |
single nucleotide variant |
Familial cancer of breast [RCV002806443] |
Chr16:23637887 [GRCh38]
Chr16:23649208 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2554C>T (p.Pro852Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003089646]|Hereditary cancer-predisposing syndrome [RCV004071961] |
Chr16:23629236 [GRCh38]
Chr16:23640557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.732G>C (p.Arg244Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003031460] |
Chr16:23635814 [GRCh38]
Chr16:23647135 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-16A>G |
single nucleotide variant |
Familial cancer of breast [RCV002676220] |
Chr16:23621494 [GRCh38]
Chr16:23632815 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2480del (p.Thr827fs) |
deletion |
Familial cancer of breast [RCV002810532] |
Chr16:23629674 [GRCh38]
Chr16:23640995 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC |
insertion |
Familial cancer of breast [RCV003031572] |
Chr16:23630487..23630488 [GRCh38]
Chr16:23641808..23641809 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+17dup |
duplication |
Familial cancer of breast [RCV003045648] |
Chr16:23613986..23613987 [GRCh38]
Chr16:23625307..23625308 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.601A>C (p.Ser201Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002806761] |
Chr16:23635945 [GRCh38]
Chr16:23647266 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3222G>C (p.Leu1074=) |
single nucleotide variant |
Familial cancer of breast [RCV002899507] |
Chr16:23607992 [GRCh38]
Chr16:23619313 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3505T>A (p.Ser1169Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002577109] |
Chr16:23603515 [GRCh38]
Chr16:23614836 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002807323] |
Chr16:23630296 [GRCh38]
Chr16:23641617 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1641C>G (p.Thr547=) |
single nucleotide variant |
Familial cancer of breast [RCV003044397] |
Chr16:23634905 [GRCh38]
Chr16:23646226 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1959_1966del (p.Ile654fs) |
deletion |
Familial cancer of breast [RCV003045528] |
Chr16:23630188..23630195 [GRCh38]
Chr16:23641509..23641516 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.48+18A>G |
single nucleotide variant |
Familial cancer of breast [RCV002899388] |
Chr16:23641092 [GRCh38]
Chr16:23652413 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002717256]|Hereditary cancer-predisposing syndrome [RCV004067773] |
Chr16:23635291 [GRCh38]
Chr16:23646612 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3049G>T (p.Ala1017Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003045594] |
Chr16:23621426 [GRCh38]
Chr16:23632747 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-5T>G |
single nucleotide variant |
Familial cancer of breast [RCV002857216] |
Chr16:23624099 [GRCh38]
Chr16:23635420 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+8G>C |
single nucleotide variant |
Familial cancer of breast [RCV002833664] |
Chr16:23641102 [GRCh38]
Chr16:23652423 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3407del (p.Thr1136fs) |
deletion |
Familial cancer of breast [RCV003045640] |
Chr16:23603613 [GRCh38]
Chr16:23614934 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.596T>A (p.Leu199His) |
single nucleotide variant |
Familial cancer of breast [RCV002810711] |
Chr16:23635950 [GRCh38]
Chr16:23647271 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1212T>A (p.Phe404Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002899141] |
Chr16:23635334 [GRCh38]
Chr16:23646655 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3243G>A (p.Glu1081=) |
single nucleotide variant |
Familial cancer of breast [RCV003046986] |
Chr16:23607971 [GRCh38]
Chr16:23619292 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1703A>G (p.Gln568Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003048549] |
Chr16:23630451 [GRCh38]
Chr16:23641772 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2010C>G (p.Asp670Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002938460]|Hereditary cancer-predisposing syndrome [RCV003585319] |
Chr16:23630144 [GRCh38]
Chr16:23641465 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.958A>C (p.Asn320His) |
single nucleotide variant |
Familial cancer of breast [RCV003027947] |
Chr16:23635588 [GRCh38]
Chr16:23646909 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2803G>A (p.Ala935Thr) |
single nucleotide variant |
Familial cancer of breast [RCV002599371] |
Chr16:23624040 [GRCh38]
Chr16:23635361 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1092C>G (p.Gly364=) |
single nucleotide variant |
Familial cancer of breast [RCV003029866] |
Chr16:23635454 [GRCh38]
Chr16:23646775 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.711A>C (p.Leu237=) |
single nucleotide variant |
Familial cancer of breast [RCV002877281] |
Chr16:23635835 [GRCh38]
Chr16:23647156 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+13C>T |
single nucleotide variant |
Familial cancer of breast [RCV002963229] |
Chr16:23637837 [GRCh38]
Chr16:23649158 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2546G>A (p.Ser849Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003045820] |
Chr16:23629244 [GRCh38]
Chr16:23640565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+7G>A |
single nucleotide variant |
Familial cancer of breast [RCV003044667] |
Chr16:23641103 [GRCh38]
Chr16:23652424 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1342del (p.Ser448fs) |
deletion |
Familial cancer of breast [RCV003045824] |
Chr16:23635204 [GRCh38]
Chr16:23646525 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3030G>C (p.Glu1010Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003046703] |
Chr16:23621445 [GRCh38]
Chr16:23632766 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-6C>T |
single nucleotide variant |
Familial cancer of breast [RCV002877362] |
Chr16:23630475 [GRCh38]
Chr16:23641796 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3232T>C (p.Cys1078Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003044697] |
Chr16:23607982 [GRCh38]
Chr16:23619303 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2677G>C (p.Asp893His) |
single nucleotide variant |
Familial cancer of breast [RCV003045531]|Hereditary cancer-predisposing syndrome [RCV004068624] |
Chr16:23626307 [GRCh38]
Chr16:23637628 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3048T>C (p.Phe1016=) |
single nucleotide variant |
Familial cancer of breast [RCV003047972] |
Chr16:23621427 [GRCh38]
Chr16:23632748 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.346T>C (p.Leu116=) |
single nucleotide variant |
Familial cancer of breast [RCV003027529] |
Chr16:23636200 [GRCh38]
Chr16:23647521 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2765T>G (p.Ile922Arg) |
single nucleotide variant |
Familial cancer of breast [RCV002791673] |
Chr16:23624078 [GRCh38]
Chr16:23635399 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2277A>T (p.Gln759His) |
single nucleotide variant |
Familial cancer of breast [RCV002856618] |
Chr16:23629877 [GRCh38]
Chr16:23641198 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2514+18T>A |
single nucleotide variant |
Familial cancer of breast [RCV003061076] |
Chr16:23629622 [GRCh38]
Chr16:23640943 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1676A>T (p.Gln559Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003028229] |
Chr16:23634870 [GRCh38]
Chr16:23646191 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.681C>T (p.Ala227=) |
single nucleotide variant |
Familial cancer of breast [RCV003047800] |
Chr16:23635865 [GRCh38]
Chr16:23647186 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2586+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV003064332]|not provided [RCV003321970] |
Chr16:23629203 [GRCh38]
Chr16:23640524 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.331G>C (p.Asp111His) |
single nucleotide variant |
Familial cancer of breast [RCV003091471] |
Chr16:23636215 [GRCh38]
Chr16:23647536 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002898881] |
Chr16:23635010 [GRCh38]
Chr16:23646331 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.962T>G (p.Leu321Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002857111] |
Chr16:23635584 [GRCh38]
Chr16:23646905 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.48+3G>A |
single nucleotide variant |
Familial cancer of breast [RCV003031019] |
Chr16:23641107 [GRCh38]
Chr16:23652428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC |
insertion |
Familial cancer of breast [RCV002792090] |
Chr16:23630471..23630472 [GRCh38]
Chr16:23641792..23641793 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|uncertain significance |
| NM_024675.4(PALB2):c.300T>C (p.Leu100=) |
single nucleotide variant |
Familial cancer of breast [RCV002877364]|Hereditary cancer-predisposing syndrome [RCV004065946] |
Chr16:23636246 [GRCh38]
Chr16:23647567 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2262T>G (p.Thr754=) |
single nucleotide variant |
Familial cancer of breast [RCV002959157] |
Chr16:23629892 [GRCh38]
Chr16:23641213 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2835-9T>G |
single nucleotide variant |
Familial cancer of breast [RCV003045601] |
Chr16:23623139 [GRCh38]
Chr16:23634460 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.761C>T (p.Ser254Leu) |
single nucleotide variant |
Familial cancer of breast [RCV002583817]|Hereditary cancer-predisposing syndrome [RCV004064499] |
Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3050dup (p.Ala1017_Glu1018insTer) |
duplication |
Familial cancer of breast [RCV002725994] |
Chr16:23621424..23621425 [GRCh38]
Chr16:23632745..23632746 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.833T>C (p.Leu278Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002603795] |
Chr16:23635713 [GRCh38]
Chr16:23647034 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1135A>G (p.Lys379Glu) |
single nucleotide variant |
Familial cancer of breast [RCV002653638] |
Chr16:23635411 [GRCh38]
Chr16:23646732 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.43G>C (p.Glu15Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003051771] |
Chr16:23641115 [GRCh38]
Chr16:23652436 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2527G>A (p.Glu843Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003052453] |
Chr16:23629263 [GRCh38]
Chr16:23640584 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.782A>T (p.His261Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003051530] |
Chr16:23635764 [GRCh38]
Chr16:23647085 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2879T>C (p.Leu960Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003092516]|Hereditary cancer-predisposing syndrome [RCV003585352] |
Chr16:23623086 [GRCh38]
Chr16:23634407 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515-19G>A |
single nucleotide variant |
Familial cancer of breast [RCV003071315] |
Chr16:23629294 [GRCh38]
Chr16:23640615 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-3_2515-2del |
microsatellite |
Familial cancer of breast [RCV002658418]|Hereditary cancer-predisposing syndrome [RCV004652008] |
Chr16:23629277..23629278 [GRCh38]
Chr16:23640598..23640599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2810G>C (p.Gly937Ala) |
single nucleotide variant |
Familial cancer of breast [RCV002608423]|Hereditary cancer-predisposing syndrome [RCV003375638] |
Chr16:23624033 [GRCh38]
Chr16:23635354 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.182A>G (p.Gln61Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003071740] |
Chr16:23637879 [GRCh38]
Chr16:23649200 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2180C>T (p.Ala727Val) |
single nucleotide variant |
Familial cancer of breast [RCV003067848] |
Chr16:23629974 [GRCh38]
Chr16:23641295 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2834+7A>T |
single nucleotide variant |
Familial cancer of breast [RCV002814715] |
Chr16:23624002 [GRCh38]
Chr16:23635323 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3303C>T (p.Leu1101=) |
single nucleotide variant |
Familial cancer of breast [RCV003032076] |
Chr16:23607911 [GRCh38]
Chr16:23619232 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-18T>G |
single nucleotide variant |
Familial cancer of breast [RCV002607248] |
Chr16:23637970 [GRCh38]
Chr16:23649291 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2224T>C (p.Ser742Pro) |
single nucleotide variant |
Familial cancer of breast [RCV002612868] |
Chr16:23629930 [GRCh38]
Chr16:23641251 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.130A>G (p.Ile44Val) |
single nucleotide variant |
Familial cancer of breast [RCV002721579] |
Chr16:23637931 [GRCh38]
Chr16:23649252 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1583A>G (p.Glu528Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003050310] |
Chr16:23634963 [GRCh38]
Chr16:23646284 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter) |
single nucleotide variant |
Familial cancer of breast [RCV002611968] |
Chr16:23626267 [GRCh38]
Chr16:23637588 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.324C>G (p.Asn108Lys) |
single nucleotide variant |
not provided [RCV003154462] |
Chr16:23636222 [GRCh38]
Chr16:23647543 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.933A>C (p.Lys311Asn) |
single nucleotide variant |
Ovarian cancer [RCV003154726] |
Chr16:23635613 [GRCh38]
Chr16:23646934 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.212-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278565] |
Chr16:23636335 [GRCh38]
Chr16:23647656 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1018A>G (p.Asn340Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278567] |
Chr16:23635528 [GRCh38]
Chr16:23646849 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3029A>T (p.Glu1010Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278571] |
Chr16:23621446 [GRCh38]
Chr16:23632767 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.677C>T (p.Thr226Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278572] |
Chr16:23635869 [GRCh38]
Chr16:23647190 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.56A>G (p.Glu19Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278573] |
Chr16:23638122 [GRCh38]
Chr16:23649443 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2451T>A (p.Thr817=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278583] |
Chr16:23629703 [GRCh38]
Chr16:23641024 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3301C>G (p.Leu1101Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278585] |
Chr16:23607913 [GRCh38]
Chr16:23619234 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1700A>C (p.His567Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278586] |
Chr16:23630454 [GRCh38]
Chr16:23641775 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1854C>A (p.Asp618Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278587] |
Chr16:23630300 [GRCh38]
Chr16:23641621 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(23614991_23619184)_(23625413_23632682)dup |
duplication |
not specified [RCV003226850] |
Chr16:23619184..23625413 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1279G>A (p.Ala427Thr) |
single nucleotide variant |
not provided [RCV003225436] |
Chr16:23635267 [GRCh38]
Chr16:23646588 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.634C>T (p.Pro212Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003607564]|Hereditary cancer-predisposing syndrome [RCV003165186] |
Chr16:23635912 [GRCh38]
Chr16:23647233 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3454C>T (p.Pro1152Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500808]|Hereditary cancer-predisposing syndrome [RCV003182742] |
Chr16:23603566 [GRCh38]
Chr16:23614887 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.301G>A (p.Asp101Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003607573]|Hereditary cancer-predisposing syndrome [RCV003182749] |
Chr16:23636245 [GRCh38]
Chr16:23647566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2591C>T (p.Pro864Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182750] |
Chr16:23626393 [GRCh38]
Chr16:23637714 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003182751] |
Chr16:23636141..23636142 [GRCh38]
Chr16:23647462..23647463 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.286A>T (p.Thr96Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182752] |
Chr16:23636260 [GRCh38]
Chr16:23647581 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1583A>T (p.Glu528Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182753] |
Chr16:23634963 [GRCh38]
Chr16:23646284 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2821del (p.Ile941fs) |
deletion |
Familial cancer of breast [RCV003455777]|Hereditary cancer-predisposing syndrome [RCV003182755] |
Chr16:23624022 [GRCh38]
Chr16:23635343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3501A>G (p.Thr1167=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182756] |
Chr16:23603519 [GRCh38]
Chr16:23614840 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3479C>T (p.Ser1160Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182758] |
Chr16:23603541 [GRCh38]
Chr16:23614862 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2373del (p.Ser792fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003182759] |
Chr16:23629781 [GRCh38]
Chr16:23641102 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.454A>T (p.Lys152Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003454093]|Hereditary breast ovarian cancer syndrome [RCV003156022] |
Chr16:23636092 [GRCh38]
Chr16:23647413 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2785T>A (p.Tyr929Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165187] |
Chr16:23624058 [GRCh38]
Chr16:23635379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2390A>G (p.Gln797Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182760] |
Chr16:23629764 [GRCh38]
Chr16:23641085 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.367G>T (p.Asp123Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182761] |
Chr16:23636179 [GRCh38]
Chr16:23647500 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1355A>G (p.Asn452Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182762] |
Chr16:23635191 [GRCh38]
Chr16:23646512 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.280G>T (p.Glu94Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182763]|not provided [RCV003228144] |
Chr16:23636266 [GRCh38]
Chr16:23647587 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3254T>A (p.Leu1085Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182764] |
Chr16:23607960 [GRCh38]
Chr16:23619281 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2514+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182766] |
Chr16:23629639 [GRCh38]
Chr16:23640960 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3470A>G (p.Gln1157Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182767] |
Chr16:23603550 [GRCh38]
Chr16:23614871 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
not provided [RCV003229307] |
Chr16:23636049 [GRCh38]
Chr16:23647370 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.10:g.(?_23603162)_(23603669_?)del |
deletion |
Familial cancer of breast [RCV003219180] |
Chr16:23603162..23603669 [GRCh38]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2832_2834+4del |
deletion |
Malignant tumor of breast [RCV003226849] |
Chr16:23624005..23624011 [GRCh38]
Chr16:23635326..23635332 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.659del (p.Ser220fs) |
deletion |
Gastric cancer [RCV003164643] |
Chr16:23635887 [GRCh38]
Chr16:23647208 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.609del (p.Lys203fs) |
deletion |
Familial cancer of breast [RCV003455523]|Gastric cancer [RCV003164682] |
Chr16:23635937 [GRCh38]
Chr16:23647258 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3008A>C (p.Asn1003Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176375] |
Chr16:23621467 [GRCh38]
Chr16:23632788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2391A>C (p.Gln797His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176376] |
Chr16:23629763 [GRCh38]
Chr16:23641084 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3089C>G (p.Thr1030Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182740] |
Chr16:23621386 [GRCh38]
Chr16:23632707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.47A>C (p.Lys16Thr) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV003156021]|not provided [RCV004697206] |
Chr16:23641111 [GRCh38]
Chr16:23652432 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3222G>T (p.Leu1074=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165188] |
Chr16:23607992 [GRCh38]
Chr16:23619313 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.27C>T (p.Leu9=) |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 3 [RCV003142288] |
Chr16:23641131 [GRCh38]
Chr16:23652452 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.201_204dup (p.His69fs) |
duplication |
Familial cancer of breast [RCV003140311] |
Chr16:23637856..23637857 [GRCh38]
Chr16:23649177..23649178 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs) |
deletion |
Familial cancer of breast [RCV003140327] |
Chr16:23621467..23621471 [GRCh38]
Chr16:23632788..23632792 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3313dup (p.Val1105fs) |
duplication |
Familial cancer of breast [RCV003140345] |
Chr16:23607900..23607901 [GRCh38]
Chr16:23619221..23619222 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.854C>A (p.Ser285Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003140367] |
Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2767del (p.Val923fs) |
deletion |
Familial cancer of breast [RCV003140375] |
Chr16:23624076 [GRCh38]
Chr16:23635397 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.728C>G (p.Thr243Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003140439] |
Chr16:23635818 [GRCh38]
Chr16:23647139 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Gastric cancer [RCV003164576] |
Chr16:23641156 [GRCh38]
Chr16:23652477 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455782]|not provided [RCV003229332] |
Chr16:23630116 [GRCh38]
Chr16:23641437 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2588A>C (p.Asn863Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607571]|Hereditary cancer-predisposing syndrome [RCV003182739] |
Chr16:23626396 [GRCh38]
Chr16:23637717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1417C>G (p.Pro473Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607572]|Hereditary cancer-predisposing syndrome [RCV003182743] |
Chr16:23635129 [GRCh38]
Chr16:23646450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3015T>C (p.Phe1005=) |
single nucleotide variant |
Familial cancer of breast [RCV003500809]|Hereditary cancer-predisposing syndrome [RCV003182745] |
Chr16:23621460 [GRCh38]
Chr16:23632781 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.273A>G (p.Glu91=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182746] |
Chr16:23636273 [GRCh38]
Chr16:23647594 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.750A>T (p.Leu250Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182747] |
Chr16:23635796 [GRCh38]
Chr16:23647117 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.29G>A (p.Ser10Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182757] |
Chr16:23641129 [GRCh38]
Chr16:23652450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-24A>C |
single nucleotide variant |
not specified [RCV003322430] |
Chr16:23626421 [GRCh38]
Chr16:23637742 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.906C>G (p.Asn302Lys) |
single nucleotide variant |
not specified [RCV003322432] |
Chr16:23635640 [GRCh38]
Chr16:23646961 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-18A>T |
single nucleotide variant |
not specified [RCV003322426] |
Chr16:23621496 [GRCh38]
Chr16:23632817 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+28T>C |
single nucleotide variant |
not specified [RCV003322428] |
Chr16:23623981 [GRCh38]
Chr16:23635302 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+26C>A |
single nucleotide variant |
not specified [RCV003322435] |
Chr16:23641084 [GRCh38]
Chr16:23652405 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2341A>C (p.Ser781Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310526] |
Chr16:23629813 [GRCh38]
Chr16:23641134 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749G>C (p.Val917Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003500824]|Hereditary cancer-predisposing syndrome [RCV003310529] |
Chr16:23624094 [GRCh38]
Chr16:23635415 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1707del (p.Glu570fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003310530] |
Chr16:23630447 [GRCh38]
Chr16:23641768 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.532G>T (p.Glu178Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450476] |
Chr16:23636014 [GRCh38]
Chr16:23647335 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.809G>T (p.Ser270Ile) |
single nucleotide variant |
Lung sarcomatoid carcinoma [RCV003322644] |
Chr16:23635737 [GRCh38]
Chr16:23647058 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+21A>G |
single nucleotide variant |
not specified [RCV003322433] |
Chr16:23638049 [GRCh38]
Chr16:23649370 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.52A>G (p.Lys18Glu) |
single nucleotide variant |
not specified [RCV003322434] |
Chr16:23638126 [GRCh38]
Chr16:23649447 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2889_2890del (p.Gly964fs) |
deletion |
not provided [RCV003322427] |
Chr16:23623075..23623076 [GRCh38]
Chr16:23634396..23634397 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.251T>C (p.Ile84Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003330191] |
Chr16:23636295 [GRCh38]
Chr16:23647616 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455801]|Hereditary cancer-predisposing syndrome [RCV003585380]|not provided [RCV003326936] |
Chr16:23635003 [GRCh38]
Chr16:23646324 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter) |
single nucleotide variant |
not provided [RCV003328908] |
Chr16:23635411 [GRCh38]
Chr16:23646732 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3392delinsGG (p.Ile1131fs) |
indel |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003330204] |
Chr16:23603628 [GRCh38]
Chr16:23614949 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2835-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV003455803]|Fanconi anemia complementation group N [RCV003340766] |
Chr16:23623132 [GRCh38]
Chr16:23634453 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3137T>C (p.Leu1046Pro) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003337823] |
Chr16:23614068 [GRCh38]
Chr16:23625389 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.991G>T (p.Glu331Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003336888] |
Chr16:23635555 [GRCh38]
Chr16:23646876 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3183_3184del (p.His1061fs) |
microsatellite |
not provided [RCV003335782] |
Chr16:23614021..23614022 [GRCh38]
Chr16:23625342..23625343 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.435C>G (p.Ser145Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360861] |
Chr16:23636111 [GRCh38]
Chr16:23647432 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2886G>A (p.Lys962=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360863] |
Chr16:23623079 [GRCh38]
Chr16:23634400 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs) |
deletion |
Familial cancer of breast [RCV003334761] |
Chr16:23607909..23607919 [GRCh38]
Chr16:23619230..23619240 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs) |
deletion |
Familial cancer of breast [RCV003455809]|Hereditary cancer-predisposing syndrome [RCV003360868] |
Chr16:23629707..23629713 [GRCh38]
Chr16:23641028..23641034 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.442A>G (p.Lys148Glu) |
single nucleotide variant |
Familial cancer of breast [RCV004572949]|Hereditary cancer-predisposing syndrome [RCV003360871] |
Chr16:23636104 [GRCh38]
Chr16:23647425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2661C>G (p.Ile887Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360859] |
Chr16:23626323 [GRCh38]
Chr16:23637644 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.905dup (p.Asn302fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003360860] |
Chr16:23635640..23635641 [GRCh38]
Chr16:23646961..23646962 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1285_1288delinsTGA (p.Ile429_Gln430delinsTer) |
indel |
Hereditary cancer-predisposing syndrome [RCV003360862] |
Chr16:23635258..23635261 [GRCh38]
Chr16:23646579..23646582 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.593A>C (p.His198Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360865] |
Chr16:23635953 [GRCh38]
Chr16:23647274 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3518C>G (p.Ala1173Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360867] |
Chr16:23603502 [GRCh38]
Chr16:23614823 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003455810]|Hereditary cancer-predisposing syndrome [RCV003360869] |
Chr16:23630414 [GRCh38]
Chr16:23641735 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs) |
deletion |
Familial cancer of breast [RCV003500841]|Hereditary cancer-predisposing syndrome [RCV003360870] |
Chr16:23635398..23635408 [GRCh38]
Chr16:23646719..23646729 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1011dup (p.Pro338fs) |
duplication |
Familial cancer of breast [RCV003334726]|Hereditary cancer-predisposing syndrome [RCV003389273] |
Chr16:23635534..23635535 [GRCh38]
Chr16:23646855..23646856 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1525_1526delinsTT (p.Gly509Phe) |
indel |
Hereditary cancer-predisposing syndrome [RCV003350695] |
Chr16:23635020..23635021 [GRCh38]
Chr16:23646341..23646342 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1058_1063del (p.Lys353_Leu355delinsIle) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003350696] |
Chr16:23635483..23635488 [GRCh38]
Chr16:23646804..23646809 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2482T>A (p.Cys828Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003367169] |
Chr16:23629672 [GRCh38]
Chr16:23640993 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV003450440] |
Chr16:23626398 [GRCh38]
Chr16:23637719 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2509_2514+9del |
deletion |
Familial cancer of breast [RCV003450446] |
Chr16:23629631..23629645 [GRCh38]
Chr16:23640952..23640966 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3114-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV003450447] |
Chr16:23614093 [GRCh38]
Chr16:23625414 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.412G>T (p.Glu138Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450467] |
Chr16:23636134 [GRCh38]
Chr16:23647455 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter) |
duplication |
Familial cancer of breast [RCV003450469] |
Chr16:23603617..23603618 [GRCh38]
Chr16:23614938..23614939 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.313G>T (p.Glu105Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450471] |
Chr16:23636233 [GRCh38]
Chr16:23647554 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.470C>A (p.Ser157Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450478] |
Chr16:23636076 [GRCh38]
Chr16:23647397 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs) |
indel |
Familial cancer of breast [RCV003450482] |
Chr16:23630178..23630186 [GRCh38]
Chr16:23641499..23641507 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1360del (p.Ser454fs) |
deletion |
Familial cancer of breast [RCV003450483] |
Chr16:23635186 [GRCh38]
Chr16:23646507 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer) |
deletion |
Familial cancer of breast [RCV003450484] |
Chr16:23629964 [GRCh38]
Chr16:23641285 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer) |
deletion |
Familial cancer of breast [RCV003450491] |
Chr16:23638093..23638094 [GRCh38]
Chr16:23649414..23649415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.964G>T (p.Glu322Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450497] |
Chr16:23635582 [GRCh38]
Chr16:23646903 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1476del (p.Thr494fs) |
deletion |
Familial cancer of breast [RCV003452229] |
Chr16:23635070 [GRCh38]
Chr16:23646391 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.261dup (p.Leu88fs) |
duplication |
Familial cancer of breast [RCV003452238] |
Chr16:23636284..23636285 [GRCh38]
Chr16:23647605..23647606 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.3333del (p.Pro1112fs) |
deletion |
Familial cancer of breast [RCV003452249] |
Chr16:23607881 [GRCh38]
Chr16:23619202 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs) |
indel |
Familial cancer of breast [RCV003452252] |
Chr16:23607877..23607881 [GRCh38]
Chr16:23619198..23619202 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2743dup (p.Ala915fs) |
duplication |
Familial cancer of breast [RCV003452258] |
Chr16:23626240..23626241 [GRCh38]
Chr16:23637561..23637562 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.298del (p.Asp101fs) |
deletion |
Familial cancer of breast [RCV003452260] |
Chr16:23636248 [GRCh38]
Chr16:23647569 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452262] |
Chr16:23635544 [GRCh38]
Chr16:23646865 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.523del (p.Arg175fs) |
deletion |
Familial cancer of breast [RCV003452263] |
Chr16:23636023 [GRCh38]
Chr16:23647344 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs) |
deletion |
Familial cancer of breast [RCV003452264] |
Chr16:23603584..23603587 [GRCh38]
Chr16:23614905..23614908 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2552dup (p.Asn851fs) |
duplication |
Familial cancer of breast [RCV003452270]|Hereditary cancer-predisposing syndrome [RCV003585401] |
Chr16:23629237..23629238 [GRCh38]
Chr16:23640558..23640559 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs) |
indel |
Familial cancer of breast [RCV003452275] |
Chr16:23635785..23635788 [GRCh38]
Chr16:23647106..23647109 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1097dup (p.Asn366fs) |
duplication |
Familial cancer of breast [RCV003452280] |
Chr16:23635448..23635449 [GRCh38]
Chr16:23646769..23646770 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.421del (p.Gln141fs) |
deletion |
Familial cancer of breast [RCV003452281]|Hereditary cancer-predisposing syndrome [RCV004364758] |
Chr16:23636125 [GRCh38]
Chr16:23647446 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs) |
deletion |
Familial cancer of breast [RCV003452285] |
Chr16:23607866..23607867 [GRCh38]
Chr16:23619187..23619188 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter) |
duplication |
Familial cancer of breast [RCV003452303] |
Chr16:23607960..23607961 [GRCh38]
Chr16:23619281..23619282 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3231del (p.Cys1078fs) |
deletion |
Familial cancer of breast [RCV003452306] |
Chr16:23607983 [GRCh38]
Chr16:23619304 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs) |
duplication |
Familial cancer of breast [RCV003452309] |
Chr16:23607908..23607909 [GRCh38]
Chr16:23619229..23619230 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.821del (p.Thr274fs) |
deletion |
Familial cancer of breast [RCV003452316] |
Chr16:23635725 [GRCh38]
Chr16:23647046 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3048dup (p.Ala1017fs) |
duplication |
Familial cancer of breast [RCV003452319] |
Chr16:23621426..23621427 [GRCh38]
Chr16:23632747..23632748 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1677dup (p.Val560fs) |
duplication |
Familial cancer of breast [RCV003452321] |
Chr16:23634868..23634869 [GRCh38]
Chr16:23646189..23646190 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2292dup (p.Asp765fs) |
duplication |
Familial cancer of breast [RCV003452324] |
Chr16:23629861..23629862 [GRCh38]
Chr16:23641182..23641183 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.828del (p.His276fs) |
deletion |
Familial cancer of breast [RCV003452325] |
Chr16:23635718 [GRCh38]
Chr16:23647039 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452326] |
Chr16:23603617 [GRCh38]
Chr16:23614938 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.593del (p.His198fs) |
deletion |
Familial cancer of breast [RCV003452356] |
Chr16:23635953 [GRCh38]
Chr16:23647274 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs) |
deletion |
Familial cancer of breast [RCV003452360] |
Chr16:23635197..23635198 [GRCh38]
Chr16:23646518..23646519 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1082del (p.Thr361fs) |
deletion |
Familial cancer of breast [RCV003452355] |
Chr16:23635464 [GRCh38]
Chr16:23646785 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.722_750del (p.Asn241fs) |
deletion |
Familial cancer of breast [RCV003452374] |
Chr16:23635796..23635824 [GRCh38]
Chr16:23647117..23647145 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs) |
deletion |
Familial cancer of breast [RCV003452348] |
Chr16:23622971..23622987 [GRCh38]
Chr16:23634292..23634308 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.838_839del (p.Asn280fs) |
deletion |
Familial cancer of breast [RCV003452341] |
Chr16:23635707..23635708 [GRCh38]
Chr16:23647028..23647029 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs) |
indel |
Familial cancer of breast [RCV003452340] |
Chr16:23634870..23634875 [GRCh38]
Chr16:23646191..23646196 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1189del (p.Thr397fs) |
deletion |
Familial cancer of breast [RCV003452338] |
Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.944_950del (p.Leu315fs) |
deletion |
Familial cancer of breast [RCV003452336] |
Chr16:23635596..23635602 [GRCh38]
Chr16:23646917..23646923 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.191C>A (p.Ser64Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003335750] |
Chr16:23637870 [GRCh38]
Chr16:23649191 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2498A>C (p.Lys833Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003367162] |
Chr16:23629656 [GRCh38]
Chr16:23640977 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-22A>G |
single nucleotide variant |
Familial cancer of breast [RCV003476591] |
Chr16:23626419 [GRCh38]
Chr16:23637740 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.136C>T (p.His46Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003476599] |
Chr16:23637925 [GRCh38]
Chr16:23649246 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV003484243] |
Chr16:23607887 [GRCh38]
Chr16:23619208 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003450448] |
Chr16:23641155 [GRCh38]
Chr16:23652476 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1733del (p.Ser578fs) |
deletion |
Familial cancer of breast [RCV003450481] |
Chr16:23630421 [GRCh38]
Chr16:23641742 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.373del (p.Gln125fs) |
deletion |
Familial cancer of breast [RCV003450488] |
Chr16:23636173 [GRCh38]
Chr16:23647494 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450493] |
Chr16:23630262 [GRCh38]
Chr16:23641583 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004560172]|Familial cancer of breast [RCV003450504] |
Chr16:23603601 [GRCh38]
Chr16:23614922 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2477del (p.Asn826fs) |
deletion |
Familial cancer of breast [RCV003450522] |
Chr16:23629677 [GRCh38]
Chr16:23640998 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.93_94dup (p.Leu32fs) |
microsatellite |
Familial cancer of breast [RCV003476595] |
Chr16:23638083..23638084 [GRCh38]
Chr16:23649404..23649405 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452231] |
Chr16:23614066 [GRCh38]
Chr16:23625387 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs) |
insertion |
Familial cancer of breast [RCV003452232] |
Chr16:23635393..23635394 [GRCh38]
Chr16:23646714..23646715 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs) |
deletion |
Familial cancer of breast [RCV003452268] |
Chr16:23635190..23635305 [GRCh38]
Chr16:23646511..23646626 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2177dup (p.Ala727fs) |
duplication |
Familial cancer of breast [RCV003452271] |
Chr16:23629976..23629977 [GRCh38]
Chr16:23641297..23641298 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452276] |
Chr16:23607973 [GRCh38]
Chr16:23619294 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452284] |
Chr16:23629710 [GRCh38]
Chr16:23641031 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.120del (p.Ala41fs) |
deletion |
Familial cancer of breast [RCV003452286] |
Chr16:23637941 [GRCh38]
Chr16:23649262 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs) |
deletion |
Familial cancer of breast [RCV003452295] |
Chr16:23629976..23630015 [GRCh38]
Chr16:23641297..23641336 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2095dup (p.Ser699fs) |
duplication |
Familial cancer of breast [RCV003452304] |
Chr16:23630058..23630059 [GRCh38]
Chr16:23641379..23641380 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2305del (p.Ala770fs) |
deletion |
Familial cancer of breast [RCV003452311] |
Chr16:23629849 [GRCh38]
Chr16:23641170 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2570dup (p.Leu857fs) |
duplication |
Familial cancer of breast [RCV003452312] |
Chr16:23629219..23629220 [GRCh38]
Chr16:23640540..23640541 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer) |
indel |
Familial cancer of breast [RCV003452314] |
Chr16:23630047..23630050 [GRCh38]
Chr16:23641368..23641371 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2072del (p.Ser691fs) |
deletion |
Familial cancer of breast [RCV003452317] |
Chr16:23630082 [GRCh38]
Chr16:23641403 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs) |
deletion |
Familial cancer of breast [RCV003452322]|Hereditary cancer-predisposing syndrome [RCV004364759] |
Chr16:23607907..23607916 [GRCh38]
Chr16:23619228..23619237 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs) |
deletion |
Familial cancer of breast [RCV003452329] |
Chr16:23626330..23626343 [GRCh38]
Chr16:23637651..23637664 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3264del (p.Val1089fs) |
deletion |
Familial cancer of breast [RCV003452362] |
Chr16:23607950 [GRCh38]
Chr16:23619271 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs) |
deletion |
Familial cancer of breast [RCV003452364] |
Chr16:23630349..23630358 [GRCh38]
Chr16:23641670..23641679 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1107del (p.Gln370fs) |
deletion |
Familial cancer of breast [RCV003452376] |
Chr16:23635439 [GRCh38]
Chr16:23646760 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs) |
indel |
Breast and/or ovarian cancer [RCV003492879]|Familial cancer of breast [RCV003452377] |
Chr16:23607914..23607923 [GRCh38]
Chr16:23619235..23619244 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.87dup (p.Lys30fs) |
duplication |
Familial cancer of breast [RCV003452346] |
Chr16:23638090..23638091 [GRCh38]
Chr16:23649411..23649412 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3201+1G>A |
single nucleotide variant |
Familial cancer of breast [RCV003450450] |
Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs) |
indel |
Familial cancer of breast [RCV003450474] |
Chr16:23629760..23629772 [GRCh38]
Chr16:23641081..23641093 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450487] |
Chr16:23634964 [GRCh38]
Chr16:23646285 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.268G>T (p.Glu90Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450489] |
Chr16:23636278 [GRCh38]
Chr16:23647599 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer) |
indel |
Familial cancer of breast [RCV003450490] |
Chr16:23603473..23603483 [GRCh38]
Chr16:23614794..23614804 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs) |
deletion |
Familial cancer of breast [RCV003452217] |
Chr16:23635322..23635337 [GRCh38]
Chr16:23646643..23646658 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.934dup (p.Ser312fs) |
duplication |
Familial cancer of breast [RCV003452237] |
Chr16:23635611..23635612 [GRCh38]
Chr16:23646932..23646933 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452239] |
Chr16:23629857 [GRCh38]
Chr16:23641178 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs) |
insertion |
Familial cancer of breast [RCV003452248] |
Chr16:23626328..23626329 [GRCh38]
Chr16:23637649..23637650 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs) |
duplication |
Familial cancer of breast [RCV003452254]|not provided [RCV004723321] |
Chr16:23629967..23629968 [GRCh38]
Chr16:23641288..23641289 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs) |
indel |
Familial cancer of breast [RCV003452267] |
Chr16:23629699..23629701 [GRCh38]
Chr16:23641020..23641022 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1926del (p.Met642fs) |
deletion |
Familial cancer of breast [RCV003452292] |
Chr16:23630228 [GRCh38]
Chr16:23641549 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3161del (p.Ser1054fs) |
deletion |
Familial cancer of breast [RCV003452296] |
Chr16:23614044 [GRCh38]
Chr16:23625365 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs) |
indel |
Familial cancer of breast [RCV003452302] |
Chr16:23629703..23629710 [GRCh38]
Chr16:23641024..23641031 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.869del (p.Glu290fs) |
deletion |
Familial cancer of breast [RCV003452357] |
Chr16:23635677 [GRCh38]
Chr16:23646998 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1614del (p.Ile538fs) |
deletion |
Familial cancer of breast [RCV003452365] |
Chr16:23634932 [GRCh38]
Chr16:23646253 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.20dup (p.Pro8fs) |
duplication |
Familial cancer of breast [RCV003452366] |
Chr16:23641137..23641138 [GRCh38]
Chr16:23652458..23652459 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs) |
deletion |
Familial cancer of breast [RCV003452368] |
Chr16:23635383..23635446 [GRCh38]
Chr16:23646704..23646767 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3296dup (p.Thr1100fs) |
duplication |
Familial cancer of breast [RCV003452383] |
Chr16:23607917..23607918 [GRCh38]
Chr16:23619238..23619239 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2462del (p.Asn821fs) |
deletion |
Familial cancer of breast [RCV003452350] |
Chr16:23629692 [GRCh38]
Chr16:23641013 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs) |
insertion |
Familial cancer of breast [RCV003452339] |
Chr16:23635343..23635344 [GRCh38]
Chr16:23646664..23646665 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.562del (p.Ala188fs) |
deletion |
Familial cancer of breast [RCV003452335] |
Chr16:23635984 [GRCh38]
Chr16:23647305 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs) |
deletion |
Familial cancer of breast [RCV003452367] |
Chr16:23624022..23624023 [GRCh38]
Chr16:23635343..23635344 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1235C>T (p.Thr412Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003880872] |
Chr16:23635311 [GRCh38]
Chr16:23646632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1169C>G (p.Ser390Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003476592] |
Chr16:23635377 [GRCh38]
Chr16:23646698 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+3G>C |
single nucleotide variant |
Familial cancer of breast [RCV003476610] |
Chr16:23641107 [GRCh38]
Chr16:23652428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2381G>A (p.Arg794Lys) |
single nucleotide variant |
Familial cancer of breast [RCV004574049]|not provided [RCV003477327] |
Chr16:23629773 [GRCh38]
Chr16:23641094 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.18_22del (p.Lys7fs) |
deletion |
Familial cancer of breast [RCV003476612] |
Chr16:23641136..23641140 [GRCh38]
Chr16:23652457..23652461 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs) |
indel |
Familial cancer of breast [RCV003476616] |
Chr16:23629825 [GRCh38]
Chr16:23641146 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1561A>T (p.Thr521Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003872652] |
Chr16:23634985 [GRCh38]
Chr16:23646306 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+2C>A |
single nucleotide variant |
Familial cancer of breast [RCV003450445] |
Chr16:23607862 [GRCh38]
Chr16:23619183 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3023C>G (p.Pro1008Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003476593] |
Chr16:23621452 [GRCh38]
Chr16:23632773 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+272C>T |
single nucleotide variant |
Familial cancer of breast [RCV003476597] |
Chr16:23637578 [GRCh38]
Chr16:23648899 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1947del (p.Glu650fs) |
deletion |
Familial cancer of breast [RCV003476611] |
Chr16:23630207 [GRCh38]
Chr16:23641528 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2759del (p.Leu920fs) |
deletion |
Familial cancer of breast [RCV003476613] |
Chr16:23624084 [GRCh38]
Chr16:23635405 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2586+4A>C |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003388289]|Familial cancer of breast [RCV003500849] |
Chr16:23629200 [GRCh38]
Chr16:23640521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-70_2860del |
deletion |
Familial cancer of breast [RCV003450449] |
Chr16:23623105..23623200 [GRCh38]
Chr16:23634426..23634521 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3202-2_3207del |
deletion |
Familial cancer of breast [RCV003450457] |
Chr16:23608007..23608014 [GRCh38]
Chr16:23619328..23619335 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450464] |
Chr16:23630086 [GRCh38]
Chr16:23641407 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450475] |
Chr16:23629710 [GRCh38]
Chr16:23641031 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1331del (p.Asn444fs) |
deletion |
Familial cancer of breast [RCV003450485]|Hereditary cancer-predisposing syndrome [RCV004654227] |
Chr16:23635215 [GRCh38]
Chr16:23646536 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer) |
deletion |
Familial cancer of breast [RCV003450492] |
Chr16:23635963 [GRCh38]
Chr16:23647284 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs) |
microsatellite |
Familial cancer of breast [RCV003450496] |
Chr16:23608003..23608004 [GRCh38]
Chr16:23619324..23619325 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2005del (p.Glu669fs) |
deletion |
Familial cancer of breast [RCV003450498] |
Chr16:23630149 [GRCh38]
Chr16:23641470 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.128dup (p.Ile44fs) |
duplication |
Familial cancer of breast [RCV003452242] |
Chr16:23637932..23637933 [GRCh38]
Chr16:23649253..23649254 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.443_446del (p.Lys148fs) |
microsatellite |
Familial cancer of breast [RCV003452243] |
Chr16:23636100..23636103 [GRCh38]
Chr16:23647421..23647424 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452246] |
Chr16:23626326 [GRCh38]
Chr16:23637647 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer) |
indel |
Familial cancer of breast [RCV003452247] |
Chr16:23635629..23635637 [GRCh38]
Chr16:23646950..23646958 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1819del (p.Leu607fs) |
deletion |
Familial cancer of breast [RCV003452253] |
Chr16:23630335 [GRCh38]
Chr16:23641656 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3105del (p.Ile1035fs) |
deletion |
Familial cancer of breast [RCV003452265] |
Chr16:23621370 [GRCh38]
Chr16:23632691 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452279] |
Chr16:23626380 [GRCh38]
Chr16:23637701 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1647del (p.His549fs) |
deletion |
Familial cancer of breast [RCV003452288] |
Chr16:23634899 [GRCh38]
Chr16:23646220 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2425del (p.Thr809fs) |
deletion |
Familial cancer of breast [RCV003452289] |
Chr16:23629729 [GRCh38]
Chr16:23641050 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2579del (p.Glu860fs) |
deletion |
Familial cancer of breast [RCV003452290] |
Chr16:23629211 [GRCh38]
Chr16:23640532 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs) |
deletion |
Familial cancer of breast [RCV003452291] |
Chr16:23629234..23629238 [GRCh38]
Chr16:23640555..23640559 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs) |
indel |
Familial cancer of breast [RCV003452301] |
Chr16:23635560..23635562 [GRCh38]
Chr16:23646881..23646883 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2528del (p.Glu843fs) |
deletion |
Familial cancer of breast [RCV003452308] |
Chr16:23629262 [GRCh38]
Chr16:23640583 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.782dup (p.His261fs) |
duplication |
Familial cancer of breast [RCV003452323] |
Chr16:23635763..23635764 [GRCh38]
Chr16:23647084..23647085 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs) |
deletion |
Familial cancer of breast [RCV003452380] |
Chr16:23635105..23635108 [GRCh38]
Chr16:23646426..23646429 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2613del (p.Asp871fs) |
deletion |
Familial cancer of breast [RCV003452351] |
Chr16:23626371 [GRCh38]
Chr16:23637692 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer) |
deletion |
Familial cancer of breast [RCV003452337] |
Chr16:23638116 [GRCh38]
Chr16:23649437 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs) |
insertion |
Familial cancer of breast [RCV003452332] |
Chr16:23607966..23607967 [GRCh38]
Chr16:23619287..23619288 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2996+4A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV003484244] |
Chr16:23622965 [GRCh38]
Chr16:23634286 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.62T>A (p.Leu21Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003484442] |
Chr16:23638116 [GRCh38]
Chr16:23649437 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2620G>A (p.Ala874Thr) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003484511] |
Chr16:23626364 [GRCh38]
Chr16:23637685 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2580G>C (p.Glu860Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585417]|not provided [RCV003477328] |
Chr16:23629210 [GRCh38]
Chr16:23640531 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs) |
deletion |
Familial cancer of breast [RCV003450463]|Hereditary cancer-predisposing syndrome [RCV004364753] |
Chr16:23635103..23635104 [GRCh38]
Chr16:23646424..23646425 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.55G>T (p.Glu19Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450472] |
Chr16:23638123 [GRCh38]
Chr16:23649444 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2845del (p.Cys949fs) |
deletion |
Familial cancer of breast [RCV003450486] |
Chr16:23623120 [GRCh38]
Chr16:23634441 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.33T>A (p.Cys11Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450503] |
Chr16:23641125 [GRCh38]
Chr16:23652446 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3300T>C (p.Thr1100=) |
single nucleotide variant |
not provided [RCV003456923] |
Chr16:23607914 [GRCh38]
Chr16:23619235 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.373C>T (p.Gln125Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003485911] |
Chr16:23636173 [GRCh38]
Chr16:23647494 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1860A>T (p.Gly620=) |
single nucleotide variant |
not provided [RCV003477326] |
Chr16:23630294 [GRCh38]
Chr16:23641615 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-7C>T |
single nucleotide variant |
not provided [RCV003477330] |
Chr16:23641164 [GRCh38]
Chr16:23652485 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.670_671delinsAT (p.Pro224Ile) |
indel |
Familial cancer of breast [RCV003476590] |
Chr16:23635875..23635876 [GRCh38]
Chr16:23647196..23647197 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2776C>T (p.Pro926Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003476594] |
Chr16:23624067 [GRCh38]
Chr16:23635388 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.261_265delinsA (p.His87fs) |
indel |
Familial cancer of breast [RCV003476604] |
Chr16:23636281..23636285 [GRCh38]
Chr16:23647602..23647606 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs) |
insertion |
Familial cancer of breast [RCV003476605] |
Chr16:23630304..23630305 [GRCh38]
Chr16:23641625..23641626 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.49-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV003476607] |
Chr16:23638131 [GRCh38]
Chr16:23649452 [GRCh37]
Chr16:16p12.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs) |
duplication |
Familial cancer of breast [RCV003476615] |
Chr16:23635409..23635410 [GRCh38]
Chr16:23646730..23646731 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.109-39A>C |
single nucleotide variant |
Familial cancer of breast [RCV003476596] |
Chr16:23637991 [GRCh38]
Chr16:23649312 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.956del (p.Ser319fs) |
deletion |
Familial cancer of breast [RCV003476598] |
Chr16:23635590 [GRCh38]
Chr16:23646911 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.49-3C>A |
single nucleotide variant |
Familial cancer of breast [RCV003476600] |
Chr16:23638132 [GRCh38]
Chr16:23649453 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.57_58del (p.Lys20fs) |
microsatellite |
Familial cancer of breast [RCV003476606]|Hereditary cancer-predisposing syndrome [RCV003585408] |
Chr16:23638120..23638121 [GRCh38]
Chr16:23649441..23649442 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs) |
microsatellite |
Familial cancer of breast [RCV003450501] |
Chr16:23635111..23635112 [GRCh38]
Chr16:23646432..23646433 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2816del (p.Leu939fs) |
deletion |
Familial cancer of breast [RCV003476602] |
Chr16:23624027 [GRCh38]
Chr16:23635348 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG |
indel |
Familial cancer of breast [RCV003476608] |
Chr16:23629201..23629203 [GRCh38]
Chr16:23640522..23640524 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.163_164dup (p.Gln55fs) |
duplication |
Familial cancer of breast [RCV003476617] |
Chr16:23637896..23637897 [GRCh38]
Chr16:23649217..23649218 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs) |
indel |
Familial cancer of breast [RCV003452228] |
Chr16:23635974..23635977 [GRCh38]
Chr16:23647295..23647298 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1645del (p.His549fs) |
deletion |
Familial cancer of breast [RCV003452233] |
Chr16:23634901 [GRCh38]
Chr16:23646222 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer) |
deletion |
Familial cancer of breast [RCV003452240] |
Chr16:23637862 [GRCh38]
Chr16:23649183 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs) |
indel |
Familial cancer of breast [RCV003452244]|Hereditary cancer-predisposing syndrome [RCV004364757] |
Chr16:23635530..23635533 [GRCh38]
Chr16:23646851..23646854 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs) |
indel |
Familial cancer of breast [RCV003452266] |
Chr16:23607998..23608000 [GRCh38]
Chr16:23619319..23619321 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs) |
deletion |
Familial cancer of breast [RCV003452269] |
Chr16:23635479..23635482 [GRCh38]
Chr16:23646800..23646803 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs) |
deletion |
Familial cancer of breast [RCV003452273] |
Chr16:23621429..23621444 [GRCh38]
Chr16:23632750..23632765 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3411del (p.Ile1137fs) |
deletion |
Familial cancer of breast [RCV003452274] |
Chr16:23603609 [GRCh38]
Chr16:23614930 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs) |
duplication |
Familial cancer of breast [RCV003452277] |
Chr16:23629744..23629745 [GRCh38]
Chr16:23641065..23641066 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452298] |
Chr16:23614086 [GRCh38]
Chr16:23625407 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs) |
indel |
Familial cancer of breast [RCV003452327]|Hereditary cancer-predisposing syndrome [RCV003585402] |
Chr16:23634957..23634959 [GRCh38]
Chr16:23646278..23646280 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1453del (p.Thr485fs) |
deletion |
Familial cancer of breast [RCV003452328] |
Chr16:23635093 [GRCh38]
Chr16:23646414 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1524del (p.Gly509fs) |
deletion |
Familial cancer of breast [RCV003452330] |
Chr16:23635022 [GRCh38]
Chr16:23646343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.850_866del (p.Thr284fs) |
deletion |
Familial cancer of breast [RCV003452358] |
Chr16:23635680..23635696 [GRCh38]
Chr16:23647001..23647017 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs) |
deletion |
Familial cancer of breast [RCV003452361] |
Chr16:23614025..23614026 [GRCh38]
Chr16:23625346..23625347 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs) |
deletion |
Familial cancer of breast [RCV003452363] |
Chr16:23607887..23607891 [GRCh38]
Chr16:23619208..23619212 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1114del (p.Ser372fs) |
deletion |
Familial cancer of breast [RCV003452369] |
Chr16:23635432 [GRCh38]
Chr16:23646753 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452370] |
Chr16:23630313 [GRCh38]
Chr16:23641634 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2649dup (p.Glu884fs) |
duplication |
Familial cancer of breast [RCV003452349] |
Chr16:23626334..23626335 [GRCh38]
Chr16:23637655..23637656 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer) |
deletion |
Familial cancer of breast [RCV003452344] |
Chr16:23630311..23630339 [GRCh38]
Chr16:23641632..23641660 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2702del (p.Leu901fs) |
deletion |
Familial cancer of breast [RCV003452342] |
Chr16:23626282 [GRCh38]
Chr16:23637603 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2997-2A>G |
single nucleotide variant |
Familial cancer of breast [RCV003450441] |
Chr16:23621480 [GRCh38]
Chr16:23632801 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.109-2A>T |
single nucleotide variant |
Familial cancer of breast [RCV003450443] |
Chr16:23637954 [GRCh38]
Chr16:23649275 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.109-1G>A |
single nucleotide variant |
Familial cancer of breast [RCV003450444] |
Chr16:23637953 [GRCh38]
Chr16:23649274 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2834+2T>A |
single nucleotide variant |
Familial cancer of breast [RCV003450451]|Hereditary cancer-predisposing syndrome [RCV004364752] |
Chr16:23624007 [GRCh38]
Chr16:23635328 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3202-34_3305del |
deletion |
Familial cancer of breast [RCV003450452] |
Chr16:23607909..23608046 [GRCh38]
Chr16:23619230..23619367 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3202-15_3209del |
deletion |
Familial cancer of breast [RCV003450455] |
Chr16:23608005..23608027 [GRCh38]
Chr16:23619326..23619348 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2663T>C (p.Ile888Thr) |
single nucleotide variant |
not provided [RCV003417683] |
Chr16:23626321 [GRCh38]
Chr16:23637642 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.620dup (p.Asp208fs) |
duplication |
not provided [RCV003417684] |
Chr16:23635925..23635926 [GRCh38]
Chr16:23647246..23647247 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.922_923delinsATAG (p.Ala308fs) |
indel |
Hereditary breast ovarian cancer syndrome [RCV003455867] |
Chr16:23635623..23635624 [GRCh38]
Chr16:23646944..23646945 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2748+2T>A |
single nucleotide variant |
Familial cancer of breast [RCV003450442] |
Chr16:23626234 [GRCh38]
Chr16:23637555 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003450453] |
Chr16:23621362 [GRCh38]
Chr16:23632683 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2749-3_2749-1delinsAA |
indel |
Familial cancer of breast [RCV003450454] |
Chr16:23624095..23624097 [GRCh38]
Chr16:23635416..23635418 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3114-57_3120del |
deletion |
Familial cancer of breast [RCV003450456] |
Chr16:23614085..23614148 [GRCh38]
Chr16:23625406..23625469 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2870del (p.Lys957fs) |
deletion |
Familial cancer of breast [RCV003450458] |
Chr16:23623095 [GRCh38]
Chr16:23634416 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs) |
deletion |
Familial cancer of breast [RCV003450459] |
Chr16:23635338..23635339 [GRCh38]
Chr16:23646659..23646660 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450461] |
Chr16:23634954 [GRCh38]
Chr16:23646275 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450466]|Hereditary cancer-predisposing syndrome [RCV003585399] |
Chr16:23621465 [GRCh38]
Chr16:23632786 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs) |
deletion |
Familial cancer of breast [RCV003450470]|Hereditary cancer-predisposing syndrome [RCV004661659] |
Chr16:23603625..23603626 [GRCh38]
Chr16:23614946..23614947 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2994del (p.Gly999fs) |
deletion |
Familial cancer of breast [RCV003450473] |
Chr16:23622971 [GRCh38]
Chr16:23634292 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450477] |
Chr16:23626249 [GRCh38]
Chr16:23637570 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450479] |
Chr16:23635132 [GRCh38]
Chr16:23646453 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450480] |
Chr16:23607976 [GRCh38]
Chr16:23619297 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1668dup (p.Phe557fs) |
duplication |
Familial cancer of breast [RCV003450494] |
Chr16:23634877..23634878 [GRCh38]
Chr16:23646198..23646199 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1296_1306del (p.His432fs) |
deletion |
Familial cancer of breast [RCV003450499] |
Chr16:23635240..23635250 [GRCh38]
Chr16:23646561..23646571 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003450500] |
Chr16:23630206 [GRCh38]
Chr16:23641527 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs) |
duplication |
Familial cancer of breast [RCV003452235] |
Chr16:23630198..23630199 [GRCh38]
Chr16:23641519..23641520 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.854del (p.Ser285fs) |
deletion |
Familial cancer of breast [RCV003452236] |
Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1068dup (p.Ser357fs) |
duplication |
Familial cancer of breast [RCV003452245] |
Chr16:23635477..23635478 [GRCh38]
Chr16:23646798..23646799 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3339del (p.Gln1114fs) |
deletion |
Familial cancer of breast [RCV003452250] |
Chr16:23607875 [GRCh38]
Chr16:23619196 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452255] |
Chr16:23614086 [GRCh38]
Chr16:23625407 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs) |
indel |
Familial cancer of breast [RCV003452257] |
Chr16:23636022 [GRCh38]
Chr16:23647343 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1392del (p.Met465fs) |
deletion |
Familial cancer of breast [RCV003452261] |
Chr16:23635154 [GRCh38]
Chr16:23646475 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452282] |
Chr16:23635435 [GRCh38]
Chr16:23646756 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs) |
duplication |
Familial cancer of breast [RCV003452283] |
Chr16:23635302..23635303 [GRCh38]
Chr16:23646623..23646624 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs) |
indel |
Familial cancer of breast [RCV003452294] |
Chr16:23621466..23621467 [GRCh38]
Chr16:23632787..23632788 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs) |
duplication |
Familial cancer of breast [RCV003452297] |
Chr16:23629906..23629907 [GRCh38]
Chr16:23641227..23641228 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs) |
deletion |
Familial cancer of breast [RCV003452299] |
Chr16:23634995..23634996 [GRCh38]
Chr16:23646316..23646317 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2128dup (p.Thr710fs) |
duplication |
Familial cancer of breast [RCV003452305] |
Chr16:23630025..23630026 [GRCh38]
Chr16:23641346..23641347 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2759dup (p.Leu920fs) |
duplication |
Familial cancer of breast [RCV003452310] |
Chr16:23624083..23624084 [GRCh38]
Chr16:23635404..23635405 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs) |
deletion |
Familial cancer of breast [RCV003452313] |
Chr16:23629649..23629656 [GRCh38]
Chr16:23640970..23640977 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452315] |
Chr16:23629980 [GRCh38]
Chr16:23641301 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs) |
indel |
Familial cancer of breast [RCV003452318] |
Chr16:23623063..23623077 [GRCh38]
Chr16:23634384..23634398 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1551dup (p.Ser518fs) |
duplication |
Familial cancer of breast [RCV003452320] |
Chr16:23634994..23634995 [GRCh38]
Chr16:23646315..23646316 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452331] |
Chr16:23626337 [GRCh38]
Chr16:23637658 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs) |
indel |
Familial cancer of breast [RCV003452371] |
Chr16:23603566..23603568 [GRCh38]
Chr16:23614887..23614889 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs) |
duplication |
Familial cancer of breast [RCV003452372] |
Chr16:23629887..23629888 [GRCh38]
Chr16:23641208..23641209 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2503del (p.Ser835fs) |
deletion |
Familial cancer of breast [RCV003452373] |
Chr16:23629651 [GRCh38]
Chr16:23640972 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1416del (p.Gln472fs) |
deletion |
Familial cancer of breast [RCV003452375] |
Chr16:23635130 [GRCh38]
Chr16:23646451 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.347dup (p.Leu116fs) |
duplication |
Familial cancer of breast [RCV003452378] |
Chr16:23636198..23636199 [GRCh38]
Chr16:23647519..23647520 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer) |
deletion |
Familial cancer of breast [RCV003452379] |
Chr16:23635424 [GRCh38]
Chr16:23646745 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3412del (p.Ala1138fs) |
deletion |
Familial cancer of breast [RCV003452381] |
Chr16:23603608 [GRCh38]
Chr16:23614929 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.898del (p.Thr300fs) |
deletion |
Familial cancer of breast [RCV003452382] |
Chr16:23635648 [GRCh38]
Chr16:23646969 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3291del (p.Lys1098fs) |
deletion |
Familial cancer of breast [RCV003452354] |
Chr16:23607923 [GRCh38]
Chr16:23619244 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs) |
deletion |
Familial cancer of breast [RCV003452353] |
Chr16:23635115..23635130 [GRCh38]
Chr16:23646436..23646451 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer) |
deletion |
Familial cancer of breast [RCV003452347] |
Chr16:23635319 [GRCh38]
Chr16:23646640 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs) |
deletion |
Familial cancer of breast [RCV003452345] |
Chr16:23629250..23629256 [GRCh38]
Chr16:23640571..23640577 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2261del (p.Thr754fs) |
deletion |
Familial cancer of breast [RCV003452334] |
Chr16:23629893 [GRCh38]
Chr16:23641214 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2725del (p.Leu909fs) |
deletion |
Familial cancer of breast [RCV003452333] |
Chr16:23626259 [GRCh38]
Chr16:23637580 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003452234] |
Chr16:23634936 [GRCh38]
Chr16:23646257 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.571C>T (p.Pro191Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003608649] |
Chr16:23635975 [GRCh38]
Chr16:23647296 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2293_2294dup (p.Asp765fs) |
duplication |
Breast and/or ovarian cancer [RCV003493317] |
Chr16:23629859..23629860 [GRCh38]
Chr16:23641180..23641181 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3177C>T (p.Val1059=) |
single nucleotide variant |
Familial cancer of breast [RCV003608619] |
Chr16:23614028 [GRCh38]
Chr16:23625349 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2996+14T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607633] |
Chr16:23622955 [GRCh38]
Chr16:23634276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1013del (p.Pro338fs) |
deletion |
Familial cancer of breast [RCV003607641] |
Chr16:23635533 [GRCh38]
Chr16:23646854 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.796C>A (p.Pro266Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607645] |
Chr16:23635750 [GRCh38]
Chr16:23647071 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3169G>A (p.Ala1057Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607646] |
Chr16:23614036 [GRCh38]
Chr16:23625357 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs) |
deletion |
Familial cancer of breast [RCV003485908] |
Chr16:23630228..23630238 [GRCh38]
Chr16:23641549..23641559 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2835-1G>T |
single nucleotide variant |
Familial cancer of breast [RCV003485910] |
Chr16:23623131 [GRCh38]
Chr16:23634452 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.211+12C>T |
single nucleotide variant |
Familial cancer of breast [RCV003608631] |
Chr16:23637838 [GRCh38]
Chr16:23649159 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1268T>C (p.Val423Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607677]|Hereditary cancer-predisposing syndrome [RCV004371539] |
Chr16:23635278 [GRCh38]
Chr16:23646599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1823_1824del (p.Ser608fs) |
deletion |
Familial cancer of breast [RCV003607857] |
Chr16:23630330..23630331 [GRCh38]
Chr16:23641651..23641652 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1903G>C (p.Val635Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607631] |
Chr16:23630251 [GRCh38]
Chr16:23641572 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3082G>C (p.Gly1028Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607639] |
Chr16:23621393 [GRCh38]
Chr16:23632714 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003607843] |
Chr16:23629754 [GRCh38]
Chr16:23641075 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.50T>A (p.Leu17Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003607890] |
Chr16:23638128 [GRCh38]
Chr16:23649449 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2434C>A (p.Pro812Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607660] |
Chr16:23629720 [GRCh38]
Chr16:23641041 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1068A>G (p.Lys356=) |
single nucleotide variant |
Familial cancer of breast [RCV003607704] |
Chr16:23635478 [GRCh38]
Chr16:23646799 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3293A>C (p.Lys1098Thr) |
single nucleotide variant |
not specified [RCV003494161] |
Chr16:23607921 [GRCh38]
Chr16:23619242 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-29C>T |
single nucleotide variant |
not specified [RCV003494165] |
Chr16:23626426 [GRCh38]
Chr16:23637747 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2782G>C (p.Val928Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607974] |
Chr16:23624061 [GRCh38]
Chr16:23635382 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1529_1535del (p.Arg510fs) |
deletion |
Familial cancer of breast [RCV003608009] |
Chr16:23635011..23635017 [GRCh38]
Chr16:23646332..23646338 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3071A>T (p.Glu1024Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607793] |
Chr16:23621404 [GRCh38]
Chr16:23632725 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.833dup (p.Asn280fs) |
duplication |
Familial cancer of breast [RCV003608031] |
Chr16:23635712..23635713 [GRCh38]
Chr16:23647033..23647034 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1731_1732insC (p.Ser578fs) |
insertion |
Familial cancer of breast [RCV003608037] |
Chr16:23630422..23630423 [GRCh38]
Chr16:23641743..23641744 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.734C>G (p.Ala245Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003608071] |
Chr16:23635812 [GRCh38]
Chr16:23647133 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108G>C (p.Gln36His) |
single nucleotide variant |
Familial cancer of breast [RCV003607896] |
Chr16:23638070 [GRCh38]
Chr16:23649391 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1510G>C (p.Val504Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003608159] |
Chr16:23635036 [GRCh38]
Chr16:23646357 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3287A>C (p.Asn1096Thr) |
single nucleotide variant |
not specified [RCV003494162] |
Chr16:23607927 [GRCh38]
Chr16:23619248 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2846G>C (p.Cys949Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003608197] |
Chr16:23623119 [GRCh38]
Chr16:23634440 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.363A>T (p.Thr121=) |
single nucleotide variant |
Familial cancer of breast [RCV003608245] |
Chr16:23636183 [GRCh38]
Chr16:23647504 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.731G>A (p.Arg244Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003608041] |
Chr16:23635815 [GRCh38]
Chr16:23647136 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1217_1218insTT (p.Ala406_Glu407insTer) |
insertion |
Familial cancer of breast [RCV003608061] |
Chr16:23635328..23635329 [GRCh38]
Chr16:23646649..23646650 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.623A>G (p.Asp208Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003608271] |
Chr16:23635923 [GRCh38]
Chr16:23647244 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1783G>T (p.Asp595Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003608088] |
Chr16:23630371 [GRCh38]
Chr16:23641692 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003608380] |
Chr16:23622973 [GRCh38]
Chr16:23634294 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1676_1677delinsGC (p.Gln559Arg) |
indel |
Familial cancer of breast [RCV003608419] |
Chr16:23634869..23634870 [GRCh38]
Chr16:23646190..23646191 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1799T>C (p.Leu600Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003608469] |
Chr16:23630355 [GRCh38]
Chr16:23641676 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3252G>T (p.Ser1084=) |
single nucleotide variant |
Familial cancer of breast [RCV003608266] |
Chr16:23607962 [GRCh38]
Chr16:23619283 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3438G>T (p.Gln1146His) |
single nucleotide variant |
Familial cancer of breast [RCV003608270] |
Chr16:23603582 [GRCh38]
Chr16:23614903 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3346G>A (p.Gly1116Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003608305]|not specified [RCV004596606] |
Chr16:23607868 [GRCh38]
Chr16:23619189 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3389C>T (p.Ala1130Val) |
single nucleotide variant |
Familial cancer of breast [RCV003608355] |
Chr16:23603631 [GRCh38]
Chr16:23614952 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.484T>G (p.Cys162Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003608360] |
Chr16:23636062 [GRCh38]
Chr16:23647383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003608365] |
Chr16:23629208 [GRCh38]
Chr16:23640529 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3202-34T>C |
single nucleotide variant |
not specified [RCV003494164] |
Chr16:23608046 [GRCh38]
Chr16:23619367 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-18T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607979] |
Chr16:23629293 [GRCh38]
Chr16:23640614 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.910del (p.Leu304_Val305insTer) |
deletion |
Familial cancer of breast [RCV003608003] |
Chr16:23635636 [GRCh38]
Chr16:23646957 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.916A>C (p.Asn306His) |
single nucleotide variant |
Familial cancer of breast [RCV003608010] |
Chr16:23635630 [GRCh38]
Chr16:23646951 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2748G>A (p.Glu916=) |
single nucleotide variant |
Familial cancer of breast [RCV003608429] |
Chr16:23626236 [GRCh38]
Chr16:23637557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2343C>T (p.Ser781=) |
single nucleotide variant |
Familial cancer of breast [RCV003608432] |
Chr16:23629811 [GRCh38]
Chr16:23641132 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.566G>C (p.Arg189Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003608471] |
Chr16:23635980 [GRCh38]
Chr16:23647301 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.640dup (p.Thr214fs) |
duplication |
Familial cancer of breast [RCV003608044] |
Chr16:23635905..23635906 [GRCh38]
Chr16:23647226..23647227 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3207T>C (p.Leu1069=) |
single nucleotide variant |
Familial cancer of breast [RCV003607156] |
Chr16:23608007 [GRCh38]
Chr16:23619328 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-4_15del (p.Met1fs) |
deletion |
Familial cancer of breast [RCV003608096] |
Chr16:23641143..23641161 [GRCh38]
Chr16:23652464..23652482 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2317dup (p.Thr773fs) |
duplication |
Familial cancer of breast [RCV003607640] |
Chr16:23629836..23629837 [GRCh38]
Chr16:23641157..23641158 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1382del (p.Ser461fs) |
deletion |
Familial cancer of breast [RCV003608155] |
Chr16:23635164 [GRCh38]
Chr16:23646485 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1464C>G (p.Ser488Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003608163] |
Chr16:23635082 [GRCh38]
Chr16:23646403 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1580G>T (p.Cys527Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003608170] |
Chr16:23634966 [GRCh38]
Chr16:23646287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.10C>G (p.Pro4Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003608175] |
Chr16:23641148 [GRCh38]
Chr16:23652469 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1701T>C (p.His567=) |
single nucleotide variant |
Familial cancer of breast [RCV003607627] |
Chr16:23630453 [GRCh38]
Chr16:23641774 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2613T>C (p.Asp871=) |
single nucleotide variant |
Familial cancer of breast [RCV003608199] |
Chr16:23626371 [GRCh38]
Chr16:23637692 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1076G>C (p.Ser359Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003607630] |
Chr16:23635470 [GRCh38]
Chr16:23646791 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3128G>T (p.Gly1043Val) |
single nucleotide variant |
Familial cancer of breast [RCV003607647] |
Chr16:23614077 [GRCh38]
Chr16:23625398 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.189C>T (p.Leu63=) |
single nucleotide variant |
Familial cancer of breast [RCV003607669]|Hereditary cancer-predisposing syndrome [RCV004654271] |
Chr16:23637872 [GRCh38]
Chr16:23649193 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2246A>G (p.Glu749Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003608216] |
Chr16:23629908 [GRCh38]
Chr16:23641229 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2838A>C (p.Ala946=) |
single nucleotide variant |
Familial cancer of breast [RCV003608220] |
Chr16:23623127 [GRCh38]
Chr16:23634448 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3255G>T (p.Leu1085Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003608221] |
Chr16:23607959 [GRCh38]
Chr16:23619280 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.911T>C (p.Leu304Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003608226] |
Chr16:23635635 [GRCh38]
Chr16:23646956 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-10_2997-9insA |
insertion |
Familial cancer of breast [RCV003607907] |
Chr16:23621487..23621488 [GRCh38]
Chr16:23632808..23632809 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.2043dup (p.Ser682fs) |
duplication |
Familial cancer of breast [RCV003607673] |
Chr16:23630110..23630111 [GRCh38]
Chr16:23641431..23641432 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1615G>A (p.Val539Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003607625] |
Chr16:23634931 [GRCh38]
Chr16:23646252 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.115C>G (p.Gln39Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003607615] |
Chr16:23637946 [GRCh38]
Chr16:23649267 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1323A>T (p.Lys441Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003608247] |
Chr16:23635223 [GRCh38]
Chr16:23646544 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2695A>C (p.Lys899Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003608248] |
Chr16:23626289 [GRCh38]
Chr16:23637610 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2358T>A (p.His786Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003608256] |
Chr16:23629796 [GRCh38]
Chr16:23641117 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3219C>A (p.Val1073=) |
single nucleotide variant |
Familial cancer of breast [RCV003607836] |
Chr16:23607995 [GRCh38]
Chr16:23619316 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-16T>A |
single nucleotide variant |
Familial cancer of breast [RCV003608278] |
Chr16:23637968 [GRCh38]
Chr16:23649289 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.252C>T (p.Ile84=) |
single nucleotide variant |
Familial cancer of breast [RCV003607755] |
Chr16:23636294 [GRCh38]
Chr16:23647615 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2580G>A (p.Glu860=) |
single nucleotide variant |
Familial cancer of breast [RCV003608304] |
Chr16:23629210 [GRCh38]
Chr16:23640531 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.803A>C (p.Lys268Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003608310] |
Chr16:23635743 [GRCh38]
Chr16:23647064 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.275C>T (p.Thr92Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003608561]|Hereditary cancer-predisposing syndrome [RCV004374016] |
Chr16:23636271 [GRCh38]
Chr16:23647592 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.491T>G (p.Phe164Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003607782] |
Chr16:23636055 [GRCh38]
Chr16:23647376 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.230G>T (p.Cys77Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003607809] |
Chr16:23636316 [GRCh38]
Chr16:23647637 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1011A>T (p.Leu337Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003608346]|Hereditary cancer-predisposing syndrome [RCV004371860] |
Chr16:23635535 [GRCh38]
Chr16:23646856 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.407G>A (p.Ser136Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003608584]|Hereditary cancer-predisposing syndrome [RCV004374086] |
Chr16:23636139 [GRCh38]
Chr16:23647460 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1383T>C (p.Ser461=) |
single nucleotide variant |
Familial cancer of breast [RCV003608350] |
Chr16:23635163 [GRCh38]
Chr16:23646484 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3202-14T>G |
single nucleotide variant |
Familial cancer of breast [RCV003608356] |
Chr16:23608026 [GRCh38]
Chr16:23619347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.422A>G (p.Gln141Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607895] |
Chr16:23636124 [GRCh38]
Chr16:23647445 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2463T>C (p.Asn821=) |
single nucleotide variant |
Familial cancer of breast [RCV003607908] |
Chr16:23629691 [GRCh38]
Chr16:23641012 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2758T>C (p.Leu920=) |
single nucleotide variant |
Familial cancer of breast [RCV003608376] |
Chr16:23624085 [GRCh38]
Chr16:23635406 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1313A>G (p.Lys438Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003608394] |
Chr16:23635233 [GRCh38]
Chr16:23646554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-10C>T |
single nucleotide variant |
Familial cancer of breast [RCV003608398] |
Chr16:23638139 [GRCh38]
Chr16:23649460 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2703_2704delinsTT (p.Asp902Tyr) |
indel |
Familial cancer of breast [RCV003607045] |
Chr16:23626280..23626281 [GRCh38]
Chr16:23637601..23637602 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3170C>G (p.Ala1057Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003607935]|Hereditary cancer-predisposing syndrome [RCV004371695] |
Chr16:23614035 [GRCh38]
Chr16:23625356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2405G>A (p.Cys802Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003608405] |
Chr16:23629749 [GRCh38]
Chr16:23641070 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.211+7C>G |
single nucleotide variant |
Familial cancer of breast [RCV003607900] |
Chr16:23637843 [GRCh38]
Chr16:23649164 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1302T>G (p.Asp434Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003607905] |
Chr16:23635244 [GRCh38]
Chr16:23646565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.484T>C (p.Cys162Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607911] |
Chr16:23636062 [GRCh38]
Chr16:23647383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3403G>A (p.Gly1135Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003608326] |
Chr16:23603617 [GRCh38]
Chr16:23614938 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1828del (p.Thr610fs) |
deletion |
Familial cancer of breast [RCV003607841] |
Chr16:23630326 [GRCh38]
Chr16:23641647 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2651A>C (p.Glu884Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003608345] |
Chr16:23626333 [GRCh38]
Chr16:23637654 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1268_1270del (p.Val423del) |
deletion |
Familial cancer of breast [RCV003608348] |
Chr16:23635276..23635278 [GRCh38]
Chr16:23646597..23646599 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs) |
deletion |
Familial cancer of breast [RCV003607966] |
Chr16:23630461..23630462 [GRCh38]
Chr16:23641782..23641783 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2586+15C>G |
single nucleotide variant |
Familial cancer of breast [RCV003608392] |
Chr16:23629189 [GRCh38]
Chr16:23640510 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3175G>T (p.Val1059Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003608393] |
Chr16:23614030 [GRCh38]
Chr16:23625351 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-20T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607991] |
Chr16:23608032 [GRCh38]
Chr16:23619353 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1191A>C (p.Thr397=) |
single nucleotide variant |
Familial cancer of breast [RCV003608017] |
Chr16:23635355 [GRCh38]
Chr16:23646676 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3264T>C (p.Pro1088=) |
single nucleotide variant |
Familial cancer of breast [RCV003607828] |
Chr16:23607950 [GRCh38]
Chr16:23619271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+15_3113+32del |
deletion |
Familial cancer of breast [RCV003607825] |
Chr16:23621330..23621347 [GRCh38]
Chr16:23632651..23632668 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2919_2920insG (p.Lys974fs) |
insertion |
Familial cancer of breast [RCV003608426] |
Chr16:23623045..23623046 [GRCh38]
Chr16:23634366..23634367 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1152A>C (p.Glu384Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003607883] |
Chr16:23635394 [GRCh38]
Chr16:23646715 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-7_2997-6del |
deletion |
Familial cancer of breast [RCV003607906] |
Chr16:23621484..23621485 [GRCh38]
Chr16:23632805..23632806 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1372A>G (p.Thr458Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003607987] |
Chr16:23635174 [GRCh38]
Chr16:23646495 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.109-4_109-3del |
microsatellite |
Familial cancer of breast [RCV003608047] |
Chr16:23637955..23637956 [GRCh38]
Chr16:23649276..23649277 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2060C>G (p.Pro687Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003608072] |
Chr16:23630094 [GRCh38]
Chr16:23641415 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1725G>T (p.Trp575Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003608093] |
Chr16:23630429 [GRCh38]
Chr16:23641750 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2098T>C (p.Ser700Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003608097] |
Chr16:23630056 [GRCh38]
Chr16:23641377 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3285T>A (p.Ile1095=) |
single nucleotide variant |
not specified [RCV003494163] |
Chr16:23607929 [GRCh38]
Chr16:23619250 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2587-38dup |
duplication |
not specified [RCV003494166] |
Chr16:23626434..23626435 [GRCh38]
Chr16:23637755..23637756 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+29A>G |
single nucleotide variant |
not specified [RCV003494168] |
Chr16:23641081 [GRCh38]
Chr16:23652402 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2100A>C (p.Ser700=) |
single nucleotide variant |
Familial cancer of breast [RCV003607664]|Hereditary cancer-predisposing syndrome [RCV004661709] |
Chr16:23630054 [GRCh38]
Chr16:23641375 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3287_3289del (p.Asn1096_Pro1097delinsThr) |
deletion |
Familial cancer of breast [RCV003608565] |
Chr16:23607925..23607927 [GRCh38]
Chr16:23619246..23619248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.330A>C (p.Gly110=) |
single nucleotide variant |
Familial cancer of breast [RCV003608133] |
Chr16:23636216 [GRCh38]
Chr16:23647537 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.462A>T (p.Thr154=) |
single nucleotide variant |
Familial cancer of breast [RCV003608585] |
Chr16:23636084 [GRCh38]
Chr16:23647405 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.212-19A>G |
single nucleotide variant |
Familial cancer of breast [RCV003607047] |
Chr16:23636353 [GRCh38]
Chr16:23647674 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2557G>C (p.Gly853Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003607713] |
Chr16:23629233 [GRCh38]
Chr16:23640554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1901C>T (p.Pro634Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003607722] |
Chr16:23630253 [GRCh38]
Chr16:23641574 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.730A>G (p.Arg244Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003607726] |
Chr16:23635816 [GRCh38]
Chr16:23647137 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-13G>T |
single nucleotide variant |
Familial cancer of breast [RCV003608201] |
Chr16:23626410 [GRCh38]
Chr16:23637731 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2797T>A (p.Cys933Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003608204] |
Chr16:23624046 [GRCh38]
Chr16:23635367 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs) |
insertion |
Familial cancer of breast [RCV003608206] |
Chr16:23603475..23603476 [GRCh38]
Chr16:23614796..23614797 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3086CTA[1] (p.Thr1030del) |
microsatellite |
Familial cancer of breast [RCV003607749] |
Chr16:23621384..23621386 [GRCh38]
Chr16:23632705..23632707 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.607A>G (p.Lys203Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003608215] |
Chr16:23635939 [GRCh38]
Chr16:23647260 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2352dup (p.Pro785fs) |
duplication |
Familial cancer of breast [RCV003877756] |
Chr16:23629801..23629802 [GRCh38]
Chr16:23641122..23641123 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.586A>C (p.Arg196=) |
single nucleotide variant |
Familial cancer of breast [RCV003607780] |
Chr16:23635960 [GRCh38]
Chr16:23647281 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1079A>C (p.Asp360Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003608236] |
Chr16:23635467 [GRCh38]
Chr16:23646788 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2446T>A (p.Phe816Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003608249] |
Chr16:23629708 [GRCh38]
Chr16:23641029 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.32G>A (p.Cys11Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003607165] |
Chr16:23641126 [GRCh38]
Chr16:23652447 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3255G>A (p.Leu1085=) |
single nucleotide variant |
Familial cancer of breast [RCV003607171] |
Chr16:23607959 [GRCh38]
Chr16:23619280 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.327T>C (p.Pro109=) |
single nucleotide variant |
Familial cancer of breast [RCV003608261] |
Chr16:23636219 [GRCh38]
Chr16:23647540 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.109-12del |
deletion |
Familial cancer of breast [RCV003608277] |
Chr16:23637964 [GRCh38]
Chr16:23649285 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.1901C>A (p.Pro634Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003608283] |
Chr16:23630253 [GRCh38]
Chr16:23641574 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2835-13A>G |
single nucleotide variant |
Familial cancer of breast [RCV003607870] |
Chr16:23623143 [GRCh38]
Chr16:23634464 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2515-15C>G |
single nucleotide variant |
Familial cancer of breast [RCV003829648] |
Chr16:23629290 [GRCh38]
Chr16:23640611 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.211+15T>C |
single nucleotide variant |
Familial cancer of breast [RCV003607878] |
Chr16:23637835 [GRCh38]
Chr16:23649156 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.927A>G (p.Ile309Met) |
single nucleotide variant |
Familial cancer of breast [RCV003607879] |
Chr16:23635619 [GRCh38]
Chr16:23646940 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del |
deletion |
Malignant tumor of breast [RCV003493339] |
Chr16:23637556..23647656 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1933del (p.Glu645fs) |
deletion |
Familial cancer of breast [RCV003485909] |
Chr16:23630221 [GRCh38]
Chr16:23641542 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1512T>C (p.Val504=) |
single nucleotide variant |
Familial cancer of breast [RCV003501670] |
Chr16:23635034 [GRCh38]
Chr16:23646355 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1796G>C (p.Ser599Thr) |
single nucleotide variant |
not specified [RCV003994829] |
Chr16:23630358 [GRCh38]
Chr16:23641679 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.913G>A (p.Val305Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003500029] |
Chr16:23635633 [GRCh38]
Chr16:23646954 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.759_760del (p.Ser254fs) |
deletion |
Familial cancer of breast [RCV003501512] |
Chr16:23635786..23635787 [GRCh38]
Chr16:23647107..23647108 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.720T>G (p.Pro240=) |
single nucleotide variant |
Familial cancer of breast [RCV003501399] |
Chr16:23635826 [GRCh38]
Chr16:23647147 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3114-15T>G |
single nucleotide variant |
Familial cancer of breast [RCV003501639] |
Chr16:23614106 [GRCh38]
Chr16:23625427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.704C>G (p.Thr235Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003500052] |
Chr16:23635842 [GRCh38]
Chr16:23647163 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3080T>G (p.Leu1027Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003501930] |
Chr16:23621395 [GRCh38]
Chr16:23632716 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1200A>C (p.Glu400Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003500200] |
Chr16:23635346 [GRCh38]
Chr16:23646667 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1886C>G (p.Ser629Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003500220] |
Chr16:23630268 [GRCh38]
Chr16:23641589 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3386_3399dup (p.Ser1134delinsGlnGlnSerTer) |
duplication |
Familial cancer of breast [RCV003500116] |
Chr16:23603620..23603621 [GRCh38]
Chr16:23614941..23614942 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3350+8T>A |
single nucleotide variant |
Familial cancer of breast [RCV003850524] |
Chr16:23607856 [GRCh38]
Chr16:23619177 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.543A>G (p.Glu181=) |
single nucleotide variant |
Familial cancer of breast [RCV003500188] |
Chr16:23636003 [GRCh38]
Chr16:23647324 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3467_3468del (p.Asp1156fs) |
deletion |
Familial cancer of breast [RCV004589343] |
Chr16:23603552..23603553 [GRCh38]
Chr16:23614873..23614874 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1017A>G (p.Ala339=) |
single nucleotide variant |
Familial cancer of breast [RCV003500445] |
Chr16:23635529 [GRCh38]
Chr16:23646850 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.801T>G (p.Pro267=) |
single nucleotide variant |
Familial cancer of breast [RCV003500476] |
Chr16:23635745 [GRCh38]
Chr16:23647066 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1541del (p.Gly514fs) |
deletion |
Familial cancer of breast [RCV003500493] |
Chr16:23635005 [GRCh38]
Chr16:23646326 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1224T>G (p.Tyr408Ter) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004017206] |
Chr16:23635322 [GRCh38]
Chr16:23646643 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2793C>G (p.Leu931=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585683] |
Chr16:23624050 [GRCh38]
Chr16:23635371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2587-12C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585687] |
Chr16:23626409 [GRCh38]
Chr16:23637730 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1806A>G (p.Gln602=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585694] |
Chr16:23630348 [GRCh38]
Chr16:23641669 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1462A>T (p.Ser488Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585696] |
Chr16:23635084 [GRCh38]
Chr16:23646405 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.377A>G (p.Glu126Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003833157] |
Chr16:23636169 [GRCh38]
Chr16:23647490 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.61T>G (p.Leu21Val) |
single nucleotide variant |
Familial cancer of breast [RCV003500880] |
Chr16:23638117 [GRCh38]
Chr16:23649438 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.162A>G (p.Glu54=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585710] |
Chr16:23637899 [GRCh38]
Chr16:23649220 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.103C>T (p.Leu35Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585712] |
Chr16:23638075 [GRCh38]
Chr16:23649396 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2749-16G>T |
single nucleotide variant |
Familial cancer of breast [RCV003501002] |
Chr16:23624110 [GRCh38]
Chr16:23635431 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1954_1956del (p.Ser652del) |
deletion |
Familial cancer of breast [RCV003501009] |
Chr16:23630198..23630200 [GRCh38]
Chr16:23641519..23641521 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.661_662del (p.Val221fs) |
microsatellite |
Familial cancer of breast [RCV003501013] |
Chr16:23635884..23635885 [GRCh38]
Chr16:23647205..23647206 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2041A>C (p.Lys681Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003501032] |
Chr16:23630113 [GRCh38]
Chr16:23641434 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1212del (p.Pro405fs) |
deletion |
Familial cancer of breast [RCV003501053] |
Chr16:23635334 [GRCh38]
Chr16:23646655 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1850_1858del (p.Glu617_Phe619del) |
deletion |
Familial cancer of breast [RCV003501111] |
Chr16:23630296..23630304 [GRCh38]
Chr16:23641617..23641625 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2938A>C (p.Ser980Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003501171] |
Chr16:23623027 [GRCh38]
Chr16:23634348 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1582G>C (p.Glu528Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003501193] |
Chr16:23634964 [GRCh38]
Chr16:23646285 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1286_1289del (p.Ile429fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003585699] |
Chr16:23635257..23635260 [GRCh38]
Chr16:23646578..23646581 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1235C>A (p.Thr412Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585701] |
Chr16:23635311 [GRCh38]
Chr16:23646632 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1229T>G (p.Val410Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585702] |
Chr16:23635317 [GRCh38]
Chr16:23646638 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1170T>C (p.Ser390=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585703] |
Chr16:23635376 [GRCh38]
Chr16:23646697 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1035A>G (p.Leu345=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585704] |
Chr16:23635511 [GRCh38]
Chr16:23646832 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.912del (p.Leu304_Val305insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003585705] |
Chr16:23635634 [GRCh38]
Chr16:23646955 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.672A>G (p.Pro224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585707] |
Chr16:23635874 [GRCh38]
Chr16:23647195 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.260A>T (p.His87Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585709] |
Chr16:23636286 [GRCh38]
Chr16:23647607 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.120A>G (p.Arg40=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585711] |
Chr16:23637941 [GRCh38]
Chr16:23649262 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.6C>A (p.Asp2Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585714] |
Chr16:23641152 [GRCh38]
Chr16:23652473 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-9G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585715] |
Chr16:23641166 [GRCh38]
Chr16:23652487 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1313A>T (p.Lys438Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003500031] |
Chr16:23635233 [GRCh38]
Chr16:23646554 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2996+14T>A |
single nucleotide variant |
Familial cancer of breast [RCV003500911] |
Chr16:23622955 [GRCh38]
Chr16:23634276 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.310C>G (p.Pro104Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003500090] |
Chr16:23636236 [GRCh38]
Chr16:23647557 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.488T>G (p.Val163Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003500156] |
Chr16:23636058 [GRCh38]
Chr16:23647379 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.499G>A (p.Asp167Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003501364] |
Chr16:23636047 [GRCh38]
Chr16:23647368 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-13T>C |
single nucleotide variant |
Familial cancer of breast [RCV003500873]|Fanconi anemia complementation group N [RCV003596262]|Hereditary cancer-predisposing syndrome [RCV003585421] |
Chr16:23608025 [GRCh38]
Chr16:23619346 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.3174dup (p.Val1059fs) |
duplication |
Familial cancer of breast [RCV003500972] |
Chr16:23614030..23614031 [GRCh38]
Chr16:23625351..23625352 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3351-16C>T |
single nucleotide variant |
Familial cancer of breast [RCV003501435] |
Chr16:23603685 [GRCh38]
Chr16:23615006 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.595C>A (p.Leu199Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003501418] |
Chr16:23635951 [GRCh38]
Chr16:23647272 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-18A>G |
single nucleotide variant |
Familial cancer of breast [RCV003501071] |
Chr16:23608030 [GRCh38]
Chr16:23619351 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3179_3180insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAAGCTTCAGTCTGG (p.Cys1060fs) |
insertion |
Familial cancer of breast [RCV003501078] |
Chr16:23614025..23614026 [GRCh38]
Chr16:23625346..23625347 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.307G>C (p.Gly103Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003501481] |
Chr16:23636239 [GRCh38]
Chr16:23647560 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1016C>T (p.Ala339Val) |
single nucleotide variant |
Familial cancer of breast [RCV003501109]|Hereditary cancer-predisposing syndrome [RCV004366490] |
Chr16:23635530 [GRCh38]
Chr16:23646851 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.772A>G (p.Ser258Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003501527] |
Chr16:23635774 [GRCh38]
Chr16:23647095 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1145G>C (p.Ser382Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003501541] |
Chr16:23635401 [GRCh38]
Chr16:23646722 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2496T>C (p.His832=) |
single nucleotide variant |
Familial cancer of breast [RCV003500011] |
Chr16:23629658 [GRCh38]
Chr16:23640979 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2863A>G (p.Ser955Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003501405] |
Chr16:23623102 [GRCh38]
Chr16:23634423 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1396T>G (p.Ser466Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003501549] |
Chr16:23635150 [GRCh38]
Chr16:23646471 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+8T>C |
single nucleotide variant |
Familial cancer of breast [RCV003500051] |
Chr16:23621354 [GRCh38]
Chr16:23632675 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2894A>C (p.Asn965Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003500067] |
Chr16:23623071 [GRCh38]
Chr16:23634392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2578G>A (p.Glu860Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003501268] |
Chr16:23629212 [GRCh38]
Chr16:23640533 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3056T>A (p.Val1019Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003500014] |
Chr16:23621419 [GRCh38]
Chr16:23632740 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2994A>C (p.Gly998=) |
single nucleotide variant |
Familial cancer of breast [RCV003500045] |
Chr16:23622971 [GRCh38]
Chr16:23634292 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2284C>T (p.His762Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003501577] |
Chr16:23629870 [GRCh38]
Chr16:23641191 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2819A>G (p.Glu940Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003501618] |
Chr16:23624024 [GRCh38]
Chr16:23635345 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3459T>C (p.Pro1153=) |
single nucleotide variant |
Familial cancer of breast [RCV003501622] |
Chr16:23603561 [GRCh38]
Chr16:23614882 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.184G>T (p.Asp62Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV003500246] |
Chr16:23637877 [GRCh38]
Chr16:23649198 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.442A>T (p.Lys148Ter) |
single nucleotide variant |
Familial cancer of breast [RCV003501301] |
Chr16:23636104 [GRCh38]
Chr16:23647425 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1992G>A (p.Met664Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003501828] |
Chr16:23630162 [GRCh38]
Chr16:23641483 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2050C>T (p.Pro684Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003501887] |
Chr16:23630104 [GRCh38]
Chr16:23641425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+4C>A |
single nucleotide variant |
Familial cancer of breast [RCV003500287] |
Chr16:23641106 [GRCh38]
Chr16:23652427 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2088G>C (p.Thr696=) |
single nucleotide variant |
Familial cancer of breast [RCV003500310] |
Chr16:23630066 [GRCh38]
Chr16:23641387 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2747A>G (p.Glu916Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003500109] |
Chr16:23626237 [GRCh38]
Chr16:23637558 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1458A>C (p.Lys486Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003500328] |
Chr16:23635088 [GRCh38]
Chr16:23646409 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2019G>A (p.Glu673=) |
single nucleotide variant |
Familial cancer of breast [RCV003500346] |
Chr16:23630135 [GRCh38]
Chr16:23641456 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1158C>G (p.Thr386=) |
single nucleotide variant |
Familial cancer of breast [RCV003500349] |
Chr16:23635388 [GRCh38]
Chr16:23646709 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2836G>C (p.Ala946Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003500455] |
Chr16:23623129 [GRCh38]
Chr16:23634450 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.617T>G (p.Leu206Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003501964] |
Chr16:23635929 [GRCh38]
Chr16:23647250 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.905A>G (p.Asn302Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500420] |
Chr16:23635641 [GRCh38]
Chr16:23646962 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1836T>C (p.Phe612=) |
single nucleotide variant |
Familial cancer of breast [RCV003501744] |
Chr16:23630318 [GRCh38]
Chr16:23641639 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2576_2577del (p.Val858_Ser859insTer) |
deletion |
Familial cancer of breast [RCV003501863] |
Chr16:23629213..23629214 [GRCh38]
Chr16:23640534..23640535 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2163A>G (p.Thr721=) |
single nucleotide variant |
Familial cancer of breast [RCV003501791] |
Chr16:23629991 [GRCh38]
Chr16:23641312 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3529G>A (p.Asp1177Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585677] |
Chr16:23603491 [GRCh38]
Chr16:23614812 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3378C>T (p.His1126=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585678] |
Chr16:23603642 [GRCh38]
Chr16:23614963 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3113+6C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585680] |
Chr16:23621356 [GRCh38]
Chr16:23632677 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3074C>A (p.Ala1025Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585681] |
Chr16:23621401 [GRCh38]
Chr16:23632722 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2786A>G (p.Tyr929Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585684]|PALB2-related disorder [RCV004723393] |
Chr16:23624057 [GRCh38]
Chr16:23635378 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2680_2682delinsTTG (p.Val894Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV003585686] |
Chr16:23626302..23626304 [GRCh38]
Chr16:23637623..23637625 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2483G>A (p.Cys828Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585688] |
Chr16:23629671 [GRCh38]
Chr16:23640992 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2456A>C (p.Lys819Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585689] |
Chr16:23629698 [GRCh38]
Chr16:23641019 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2458_2459insTTTGATAGGCTGATTTTAAAG (p.Glu820delinsValTer) |
insertion |
Hereditary cancer-predisposing syndrome [RCV003585690] |
Chr16:23629695..23629696 [GRCh38]
Chr16:23641016..23641017 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2370A>C (p.Gln790His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585691] |
Chr16:23629784 [GRCh38]
Chr16:23641105 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2190C>G (p.Ile730Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585692] |
Chr16:23629964 [GRCh38]
Chr16:23641285 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2169G>A (p.Met723Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585693] |
Chr16:23629985 [GRCh38]
Chr16:23641306 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1521A>C (p.Ala507=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585695] |
Chr16:23635025 [GRCh38]
Chr16:23646346 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1450_1452del (p.Leu484del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003585697] |
Chr16:23635094..23635096 [GRCh38]
Chr16:23646415..23646417 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1363A>T (p.Asn455Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585698] |
Chr16:23635183 [GRCh38]
Chr16:23646504 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2175A>T (p.Ser725=) |
single nucleotide variant |
Familial cancer of breast [RCV003500951]|Hereditary cancer-predisposing syndrome [RCV004366462] |
Chr16:23629979 [GRCh38]
Chr16:23641300 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2996+16A>G |
single nucleotide variant |
Familial cancer of breast [RCV003501012] |
Chr16:23622953 [GRCh38]
Chr16:23634274 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.112G>C (p.Ala38Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003501042]|Hereditary cancer-predisposing syndrome [RCV004661671] |
Chr16:23637949 [GRCh38]
Chr16:23649270 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1440A>G (p.Lys480=) |
single nucleotide variant |
Familial cancer of breast [RCV003501072] |
Chr16:23635106 [GRCh38]
Chr16:23646427 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3351-19C>G |
single nucleotide variant |
Familial cancer of breast [RCV003501141] |
Chr16:23603688 [GRCh38]
Chr16:23615009 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.179_189del (p.Gln60fs) |
deletion |
Familial cancer of breast [RCV003501151] |
Chr16:23637872..23637882 [GRCh38]
Chr16:23649193..23649203 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3432del (p.Gly1145fs) |
deletion |
Familial cancer of breast [RCV003501158]|Hereditary cancer-predisposing syndrome [RCV004661675] |
Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2334T>C (p.Ser778=) |
single nucleotide variant |
Familial cancer of breast [RCV003501176] |
Chr16:23629820 [GRCh38]
Chr16:23641141 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2751T>C (p.Val917=) |
single nucleotide variant |
Familial cancer of breast [RCV003501081] |
Chr16:23624092 [GRCh38]
Chr16:23635413 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2773G>T (p.Val925Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003500122] |
Chr16:23624070 [GRCh38]
Chr16:23635391 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.48+14G>C |
single nucleotide variant |
Familial cancer of breast [RCV003500028] |
Chr16:23641096 [GRCh38]
Chr16:23652417 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1684+19G>C |
single nucleotide variant |
Familial cancer of breast [RCV003500057] |
Chr16:23634843 [GRCh38]
Chr16:23646164 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.13C>G (p.Pro5Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003500175] |
Chr16:23641145 [GRCh38]
Chr16:23652466 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1356C>A (p.Asn452Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003501313] |
Chr16:23635190 [GRCh38]
Chr16:23646511 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.333T>A (p.Asp111Glu) |
single nucleotide variant |
Familial cancer of breast [RCV003500066] |
Chr16:23636213 [GRCh38]
Chr16:23647534 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1574A>G (p.Asp525Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003500070] |
Chr16:23634972 [GRCh38]
Chr16:23646293 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2699C>G (p.Ala900Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003500245] |
Chr16:23626285 [GRCh38]
Chr16:23637606 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2416C>A (p.Pro806Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003500348] |
Chr16:23629738 [GRCh38]
Chr16:23641059 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-15A>C |
single nucleotide variant |
Familial cancer of breast [RCV003500369] |
Chr16:23630484 [GRCh38]
Chr16:23641805 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2133del (p.Ala712fs) |
deletion |
Familial cancer of breast [RCV003500409] |
Chr16:23630021 [GRCh38]
Chr16:23641342 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1202G>A (p.Gly401Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003501903] |
Chr16:23635344 [GRCh38]
Chr16:23646665 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.849_850insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAACATTAGATTT (p.Thr284fs) |
insertion |
Familial cancer of breast [RCV003501918] |
Chr16:23635696..23635697 [GRCh38]
Chr16:23647017..23647018 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.572C>G (p.Pro191Arg) |
single nucleotide variant |
Familial cancer of breast [RCV003501928] |
Chr16:23635974 [GRCh38]
Chr16:23647295 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3497G>A (p.Gly1166Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003500371] |
Chr16:23603523 [GRCh38]
Chr16:23614844 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1315G>T (p.Gly439Trp) |
single nucleotide variant |
Familial cancer of breast [RCV003500414] |
Chr16:23635231 [GRCh38]
Chr16:23646552 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2457A>G (p.Lys819=) |
single nucleotide variant |
Familial cancer of breast [RCV003501961] |
Chr16:23629697 [GRCh38]
Chr16:23641018 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3410T>A (p.Ile1137Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003501616] |
Chr16:23603610 [GRCh38]
Chr16:23614931 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3201+7A>G |
single nucleotide variant |
Familial cancer of breast [RCV003501666] |
Chr16:23613997 [GRCh38]
Chr16:23625318 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3496G>T (p.Gly1166Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003810972] |
Chr16:23603524 [GRCh38]
Chr16:23614845 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1549A>C (p.Lys517Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003500447] |
Chr16:23634997 [GRCh38]
Chr16:23646318 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1726A>G (p.Ser576Gly) |
single nucleotide variant |
Familial cancer of breast [RCV003501977] |
Chr16:23630428 [GRCh38]
Chr16:23641749 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1413A>T (p.Gly471=) |
single nucleotide variant |
Familial cancer of breast [RCV003501855] |
Chr16:23635133 [GRCh38]
Chr16:23646454 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1450_1453dup (p.Thr485fs) |
duplication |
Familial cancer of breast [RCV003501967] |
Chr16:23635092..23635093 [GRCh38]
Chr16:23646413..23646414 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.48+16G>C |
single nucleotide variant |
Familial cancer of breast [RCV003500461] |
Chr16:23641094 [GRCh38]
Chr16:23652415 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1179A>C (p.Lys393Asn) |
single nucleotide variant |
Familial cancer of breast [RCV003500930] |
Chr16:23635367 [GRCh38]
Chr16:23646688 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1950G>A (p.Glu650=) |
single nucleotide variant |
Familial cancer of breast [RCV003500999] |
Chr16:23630204 [GRCh38]
Chr16:23641525 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.663A>T (p.Val221=) |
single nucleotide variant |
Familial cancer of breast [RCV003501087] |
Chr16:23635883 [GRCh38]
Chr16:23647204 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2351A>C (p.Lys784Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003501701] |
Chr16:23629803 [GRCh38]
Chr16:23641124 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-18del |
deletion |
Familial cancer of breast [RCV003501198] |
Chr16:23621496 [GRCh38]
Chr16:23632817 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2217T>A (p.Pro739=) |
single nucleotide variant |
Familial cancer of breast [RCV003500123] |
Chr16:23629937 [GRCh38]
Chr16:23641258 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1983T>G (p.Pro661=) |
single nucleotide variant |
Familial cancer of breast [RCV003500008] |
Chr16:23630171 [GRCh38]
Chr16:23641492 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3413_3414delinsAT (p.Ala1138Asp) |
indel |
Familial cancer of breast [RCV003501271] |
Chr16:23603606..23603607 [GRCh38]
Chr16:23614927..23614928 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.524G>A (p.Arg175Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003501358] |
Chr16:23636022 [GRCh38]
Chr16:23647343 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2454T>C (p.Phe818=) |
single nucleotide variant |
Familial cancer of breast [RCV003500118] |
Chr16:23629700 [GRCh38]
Chr16:23641021 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3442A>G (p.Thr1148Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003500235] |
Chr16:23603578 [GRCh38]
Chr16:23614899 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3397A>T (p.Thr1133Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500269] |
Chr16:23603623 [GRCh38]
Chr16:23614944 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2711_2712delinsAA (p.Trp904Ter) |
indel |
Familial cancer of breast [RCV003500877] |
Chr16:23626272..23626273 [GRCh38]
Chr16:23637593..23637594 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3423C>T (p.Asp1141=) |
single nucleotide variant |
Familial cancer of breast [RCV003501452] |
Chr16:23603597 [GRCh38]
Chr16:23614918 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1704A>T (p.Gln568His) |
single nucleotide variant |
Familial cancer of breast [RCV003500107] |
Chr16:23630450 [GRCh38]
Chr16:23641771 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2515A>C (p.Thr839Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003500910] |
Chr16:23629275 [GRCh38]
Chr16:23640596 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1567G>A (p.Ala523Thr) |
single nucleotide variant |
Familial cancer of breast [RCV003500918] |
Chr16:23634979 [GRCh38]
Chr16:23646300 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2642G>C (p.Gly881Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003501459] |
Chr16:23626342 [GRCh38]
Chr16:23637663 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1684+4A>G |
single nucleotide variant |
Familial cancer of breast [RCV003500453] |
Chr16:23634858 [GRCh38]
Chr16:23646179 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3113+17G>A |
single nucleotide variant |
Familial cancer of breast [RCV003500964] |
Chr16:23621345 [GRCh38]
Chr16:23632666 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1443T>C (p.Leu481=) |
single nucleotide variant |
Familial cancer of breast [RCV003500969] |
Chr16:23635103 [GRCh38]
Chr16:23646424 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2834+19_2834+22del |
deletion |
Familial cancer of breast [RCV003501537] |
Chr16:23623987..23623990 [GRCh38]
Chr16:23635308..23635311 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2287T>A (p.Leu763Met) |
single nucleotide variant |
Familial cancer of breast [RCV003501413] |
Chr16:23629867 [GRCh38]
Chr16:23641188 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1561A>G (p.Thr521Ala) |
single nucleotide variant |
Familial cancer of breast [RCV003501050] |
Chr16:23634985 [GRCh38]
Chr16:23646306 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3351-20T>A |
single nucleotide variant |
Familial cancer of breast [RCV003501568] |
Chr16:23603689 [GRCh38]
Chr16:23615010 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1181A>C (p.His394Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003500879] |
Chr16:23635365 [GRCh38]
Chr16:23646686 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-8del |
deletion |
Familial cancer of breast [RCV003501082] |
Chr16:23636342 [GRCh38]
Chr16:23647663 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1048C>A (p.Gln350Lys) |
single nucleotide variant |
Familial cancer of breast [RCV003501103] |
Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3077dup (p.Leu1027fs) |
duplication |
Familial cancer of breast [RCV003501116]|Hereditary cancer-predisposing syndrome [RCV004366492] |
Chr16:23621397..23621398 [GRCh38]
Chr16:23632718..23632719 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2222G>A (p.Gly741Asp) |
single nucleotide variant |
Familial cancer of breast [RCV003501121] |
Chr16:23629932 [GRCh38]
Chr16:23641253 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1938A>C (p.Arg646Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500947] |
Chr16:23630216 [GRCh38]
Chr16:23641537 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2012T>C (p.Leu671Ser) |
single nucleotide variant |
Familial cancer of breast [RCV003500978]|Hereditary cancer-predisposing syndrome [RCV004654239] |
Chr16:23630142 [GRCh38]
Chr16:23641463 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1929T>A (p.Phe643Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003843795] |
Chr16:23630225 [GRCh38]
Chr16:23641546 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet) |
indel |
Familial cancer of breast [RCV003867377] |
Chr16:23607929 [GRCh38]
Chr16:23619250 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3318G>A (p.Met1106Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003871825] |
Chr16:23607896 [GRCh38]
Chr16:23619217 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2740T>A (p.Phe914Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003872116] |
Chr16:23626244 [GRCh38]
Chr16:23637565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-4T>A |
single nucleotide variant |
Familial cancer of breast [RCV003868560] |
Chr16:23614095 [GRCh38]
Chr16:23625416 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2740T>C (p.Phe914Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003871182] |
Chr16:23626244 [GRCh38]
Chr16:23637565 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2407_2409dup (p.Asp803_Ser804insAsp) |
duplication |
Familial cancer of breast [RCV003860029] |
Chr16:23629744..23629745 [GRCh38]
Chr16:23641065..23641066 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1685-10del |
deletion |
Familial cancer of breast [RCV003864220] |
Chr16:23630479 [GRCh38]
Chr16:23641800 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_024675.4(PALB2):c.3019A>T (p.Met1007Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003862604] |
Chr16:23621456 [GRCh38]
Chr16:23632777 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3051T>G (p.Ala1017=) |
single nucleotide variant |
Familial cancer of breast [RCV003865374] |
Chr16:23621424 [GRCh38]
Chr16:23632745 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.393G>A (p.Arg131=) |
single nucleotide variant |
Familial cancer of breast [RCV003843533] |
Chr16:23636153 [GRCh38]
Chr16:23647474 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.256A>C (p.Thr86Pro) |
single nucleotide variant |
Familial cancer of breast [RCV003861735] |
Chr16:23636290 [GRCh38]
Chr16:23647611 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.49-17T>G |
single nucleotide variant |
Familial cancer of breast [RCV003818947] |
Chr16:23638146 [GRCh38]
Chr16:23649467 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del |
deletion |
Malignant tumor of breast [RCV003988307] |
Chr16:23635329..23635416 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1161_1162del (p.Pro388fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV004517727] |
Chr16:23635384..23635385 [GRCh38]
Chr16:23646705..23646706 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2607C>G (p.Ser869=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517756] |
Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2666C>G (p.Thr889Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517760] |
Chr16:23626318 [GRCh38]
Chr16:23637639 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.282A>C (p.Glu94Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517765] |
Chr16:23636264 [GRCh38]
Chr16:23647585 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2928G>C (p.Arg976Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517767] |
Chr16:23623037 [GRCh38]
Chr16:23634358 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3221T>C (p.Leu1074Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517771] |
Chr16:23607993 [GRCh38]
Chr16:23619314 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.336_337delinsA (p.Pro113fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV004517774] |
Chr16:23636209..23636210 [GRCh38]
Chr16:23647530..23647531 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.989A>G (p.Asn330Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517796] |
Chr16:23635557 [GRCh38]
Chr16:23646878 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1064T>A (p.Leu355Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517722] |
Chr16:23635482 [GRCh38]
Chr16:23646803 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.110del (p.Arg37fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517725] |
Chr16:23637951 [GRCh38]
Chr16:23649272 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1250C>T (p.Ser417Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517728] |
Chr16:23635296 [GRCh38]
Chr16:23646617 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1397C>T (p.Ser466Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517732] |
Chr16:23635149 [GRCh38]
Chr16:23646470 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.141T>C (p.Ser47=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517733] |
Chr16:23637920 [GRCh38]
Chr16:23649241 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1560C>T (p.Cys520=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517736] |
Chr16:23634986 [GRCh38]
Chr16:23646307 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1757A>T (p.Asp586Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517740] |
Chr16:23630397 [GRCh38]
Chr16:23641718 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1906G>C (p.Glu636Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517743] |
Chr16:23630248 [GRCh38]
Chr16:23641569 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1982C>T (p.Pro661Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517744] |
Chr16:23630172 [GRCh38]
Chr16:23641493 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2315A>G (p.Asp772Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517749] |
Chr16:23629839 [GRCh38]
Chr16:23641160 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2394T>A (p.Pro798=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517752] |
Chr16:23629760 [GRCh38]
Chr16:23641081 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2654C>T (p.Pro885Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517759] |
Chr16:23626330 [GRCh38]
Chr16:23637651 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2855A>G (p.Asp952Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517766] |
Chr16:23623110 [GRCh38]
Chr16:23634431 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202-3T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517769] |
Chr16:23608015 [GRCh38]
Chr16:23619336 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3202G>A (p.Gly1068Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517770] |
Chr16:23608012 [GRCh38]
Chr16:23619333 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3230C>T (p.Pro1077Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517772] |
Chr16:23607984 [GRCh38]
Chr16:23619305 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3287A>T (p.Asn1096Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517773] |
Chr16:23607927 [GRCh38]
Chr16:23619248 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3517G>C (p.Ala1173Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517778] |
Chr16:23603503 [GRCh38]
Chr16:23614824 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.445_449del (p.Lys149fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517780] |
Chr16:23636097..23636101 [GRCh38]
Chr16:23647418..23647422 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.545T>G (p.Ile182Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517782] |
Chr16:23636001 [GRCh38]
Chr16:23647322 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.-5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517786] |
Chr16:23641162 [GRCh38]
Chr16:23652483 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.895T>A (p.Ser299Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517789] |
Chr16:23635651 [GRCh38]
Chr16:23646972 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.934A>G (p.Ser312Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517792] |
Chr16:23635612 [GRCh38]
Chr16:23646933 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.96A>T (p.Leu32=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517794] |
Chr16:23638082 [GRCh38]
Chr16:23649403 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.970A>G (p.Asn324Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517795] |
Chr16:23635576 [GRCh38]
Chr16:23646897 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2787_2802del (p.Val928_Tyr929insTer) |
deletion |
Familial cancer of breast [RCV004442474] |
Chr16:23624041..23624056 [GRCh38]
Chr16:23635362..23635377 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2827G>C (p.Glu943Gln) |
single nucleotide variant |
Familial cancer of breast [RCV004573449]|not provided [RCV003993348] |
Chr16:23624016 [GRCh38]
Chr16:23635337 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1285dup (p.Ile429fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV004517729] |
Chr16:23635260..23635261 [GRCh38]
Chr16:23646581..23646582 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1304T>C (p.Val435Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517730] |
Chr16:23635242 [GRCh38]
Chr16:23646563 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2322A>G (p.Lys774=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517750] |
Chr16:23629832 [GRCh38]
Chr16:23641153 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.48+3G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517781] |
Chr16:23641107 [GRCh38]
Chr16:23652428 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1394_1395insAGAC (p.Met465fs) |
insertion |
Familial cancer of breast [RCV004442583] |
Chr16:23635151..23635152 [GRCh38]
Chr16:23646472..23646473 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1442T>G (p.Leu481Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517734] |
Chr16:23635104 [GRCh38]
Chr16:23646425 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.155_157del (p.Val52del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517735] |
Chr16:23637904..23637906 [GRCh38]
Chr16:23649225..23649227 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1565C>A (p.Pro522Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517737] |
Chr16:23634981 [GRCh38]
Chr16:23646302 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1629G>A (p.Lys543=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517738] |
Chr16:23634917 [GRCh38]
Chr16:23646238 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2447T>A (p.Phe816Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517753] |
Chr16:23629707 [GRCh38]
Chr16:23641028 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2511_2514+6del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517755] |
Chr16:23629634..23629643 [GRCh38]
Chr16:23640955..23640964 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3002A>T (p.Lys1001Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517768] |
Chr16:23621473 [GRCh38]
Chr16:23632794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.57G>T (p.Glu19Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517784] |
Chr16:23638121 [GRCh38]
Chr16:23649442 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.767G>A (p.Ser256Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517787] |
Chr16:23635779 [GRCh38]
Chr16:23647100 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.901_902delinsAT (p.Asp301Ile) |
indel |
Hereditary cancer-predisposing syndrome [RCV004517790] |
Chr16:23635644..23635645 [GRCh38]
Chr16:23646965..23646966 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.108+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517724] |
Chr16:23638069 [GRCh38]
Chr16:23649390 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1112A>G (p.Glu371Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517726] |
Chr16:23635434 [GRCh38]
Chr16:23646755 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1321A>G (p.Lys441Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517731] |
Chr16:23635225 [GRCh38]
Chr16:23646546 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1838A>T (p.Gln613Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517741] |
Chr16:23630316 [GRCh38]
Chr16:23641637 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1882A>G (p.Lys628Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517742] |
Chr16:23630272 [GRCh38]
Chr16:23641593 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2350A>G (p.Lys784Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517751] |
Chr16:23629804 [GRCh38]
Chr16:23641125 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2653C>T (p.Pro885Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517758]|Inherited breast cancer and ovarian cancer [RCV004584242] |
Chr16:23626331 [GRCh38]
Chr16:23637652 [GRCh37]
Chr16:16p12.2 |
likely benign|uncertain significance |
| NM_024675.4(PALB2):c.2808G>T (p.Leu936Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517763] |
Chr16:23624035 [GRCh38]
Chr16:23635356 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2817G>A (p.Leu939=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517764] |
Chr16:23624026 [GRCh38]
Chr16:23635347 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3493_3495dup (p.Ser1165_Gly1166insSer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV004517777] |
Chr16:23603524..23603525 [GRCh38]
Chr16:23614845..23614846 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3526A>G (p.Lys1176Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517779] |
Chr16:23603494 [GRCh38]
Chr16:23614815 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.923C>G (p.Ala308Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517791] |
Chr16:23635623 [GRCh38]
Chr16:23646944 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.937G>A (p.Gly313Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517793] |
Chr16:23635609 [GRCh38]
Chr16:23646930 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3291T>G (p.Pro1097=) |
single nucleotide variant |
PALB2-related disorder [RCV004534585] |
Chr16:23607923 [GRCh38]
Chr16:23619244 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3225T>C (p.Ser1075=) |
single nucleotide variant |
not specified [RCV003988378] |
Chr16:23607989 [GRCh38]
Chr16:23619310 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.660T>G (p.Ser220Arg) |
single nucleotide variant |
not provided [RCV004547000] |
Chr16:23635886 [GRCh38]
Chr16:23647207 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3401C>G (p.Ser1134Cys) |
single nucleotide variant |
not provided [RCV003887505] |
Chr16:23603619 [GRCh38]
Chr16:23614940 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1051del (p.Thr351fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517721] |
Chr16:23635495 [GRCh38]
Chr16:23646816 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1689G>C (p.Lys563Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517739] |
Chr16:23630465 [GRCh38]
Chr16:23641786 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2013del (p.Glu672fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517745] |
Chr16:23630141 [GRCh38]
Chr16:23641462 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2060del (p.Pro687fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004517747] |
Chr16:23630094 [GRCh38]
Chr16:23641415 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.3:c.2454_2455insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV004517754] |
|
likely pathogenic |
| NM_024675.4(PALB2):c.1074C>G (p.Pro358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517723] |
Chr16:23635472 [GRCh38]
Chr16:23646793 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2641G>C (p.Gly881Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517757] |
Chr16:23626343 [GRCh38]
Chr16:23637664 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2669C>G (p.Ala890Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517761] |
Chr16:23626315 [GRCh38]
Chr16:23637636 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.55G>A (p.Glu19Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517783] |
Chr16:23638123 [GRCh38]
Chr16:23649444 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.590C>G (p.Thr197Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004517785] |
Chr16:23635956 [GRCh38]
Chr16:23647277 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2652_2653delinsT (p.Glu884fs) |
indel |
not provided [RCV003887772] |
Chr16:23626331..23626332 [GRCh38]
Chr16:23637652..23637653 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs) |
deletion |
Familial cancer of breast [RCV004442615]|Hereditary cancer-predisposing syndrome [RCV004654393] |
Chr16:23603565..23603571 [GRCh38]
Chr16:23614886..23614892 [GRCh37]
Chr16:16p12.2 |
pathogenic|likely pathogenic |
| NM_024675.4(PALB2):c.2515-11_2515-10insCAGTTCATTAAA |
insertion |
Hereditary cancer-predisposing syndrome [RCV004018482] |
Chr16:23629285..23629286 [GRCh38]
Chr16:23640606..23640607 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.212-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004018481] |
Chr16:23636347 [GRCh38]
Chr16:23647668 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.107A>G (p.Gln36Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004500004] |
Chr16:23638071 [GRCh38]
Chr16:23649392 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23640324)_(23646511_?)del |
deletion |
Familial cancer of breast [RCV004581594] |
Chr16:23640324..23646511 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.212-25T>G |
single nucleotide variant |
not specified [RCV004597398] |
Chr16:23636359 [GRCh38]
Chr16:23647680 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2782G>T (p.Val928Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664035] |
Chr16:23624061 [GRCh38]
Chr16:23635382 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.291T>C (p.Ser97=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664038] |
Chr16:23636255 [GRCh38]
Chr16:23647576 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.-2C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664039] |
Chr16:23641159 [GRCh38]
Chr16:23652480 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23614780)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV004581585] |
Chr16:23614780..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23632663)_(23652478_?)del |
deletion |
Familial cancer of breast [RCV004581586] |
Chr16:23632663..23652478 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23632663)_(23634471_?)del |
deletion |
Familial cancer of breast [RCV004581589] |
Chr16:23632663..23634471 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23614634)_(23634461_?)del |
deletion |
Familial cancer of breast [RCV004581590] |
Chr16:23614634..23634461 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23637547)_(23652478_?)dup |
duplication |
Familial cancer of breast [RCV004581591] |
Chr16:23637547..23652478 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NC_000016.9:g.(?_23637537)_(23641810_?)dup |
duplication |
Familial cancer of breast [RCV004581592] |
Chr16:23637537..23641810 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23647371)_(23700359_?)del |
deletion |
Familial cancer of breast [RCV004581593] |
Chr16:23647371..23700359 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NC_000016.9:g.(?_23638673)_(23641020_?)del |
deletion |
Familial cancer of breast [RCV004581595] |
Chr16:23638673..23641020 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NC_000016.9:g.(?_23605874)_(23640542_?)del |
deletion |
Familial cancer of breast [RCV004581596] |
Chr16:23605874..23640542 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3406A>G (p.Thr1136Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664031] |
Chr16:23603614 [GRCh38]
Chr16:23614935 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1794G>C (p.Leu598=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664037] |
Chr16:23630360 [GRCh38]
Chr16:23641681 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.797C>G (p.Pro266Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664043] |
Chr16:23635749 [GRCh38]
Chr16:23647070 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2832C>T (p.Ile944=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664044] |
Chr16:23624011 [GRCh38]
Chr16:23635332 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1635A>G (p.Glu545=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664046] |
Chr16:23634911 [GRCh38]
Chr16:23646232 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1738T>C (p.Tyr580His) |
single nucleotide variant |
Familial cancer of breast [RCV004574430] |
Chr16:23630416 [GRCh38]
Chr16:23641737 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1826T>C (p.Ile609Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650733] |
Chr16:23630328 [GRCh38]
Chr16:23641649 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.922G>T (p.Ala308Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650734] |
Chr16:23635624 [GRCh38]
Chr16:23646945 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2793C>A (p.Leu931=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650735] |
Chr16:23624050 [GRCh38]
Chr16:23635371 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1483_1484delinsTT (p.Glu495Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV004650736] |
Chr16:23635062..23635063 [GRCh38]
Chr16:23646383..23646384 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1484A>T (p.Glu495Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650737] |
Chr16:23635062 [GRCh38]
Chr16:23646383 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3171T>G (p.Ala1057=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650738] |
Chr16:23614034 [GRCh38]
Chr16:23625355 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3026dup (p.Pro1009_Glu1010insTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV004664032] |
Chr16:23621448..23621449 [GRCh38]
Chr16:23632769..23632770 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2748+1del |
deletion |
not provided [RCV004697937] |
Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.443del (p.Lys148fs) |
deletion |
not provided [RCV004697938] |
Chr16:23636103 [GRCh38]
Chr16:23647424 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1831G>T (p.Asp611Tyr) |
single nucleotide variant |
Familial cancer of breast [RCV004574429] |
Chr16:23630323 [GRCh38]
Chr16:23641644 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3154G>C (p.Asp1052His) |
single nucleotide variant |
Familial cancer of breast [RCV004574437] |
Chr16:23614051 [GRCh38]
Chr16:23625372 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2829_2830del (p.Glu943fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV004664033] |
Chr16:23624013..23624014 [GRCh38]
Chr16:23635334..23635335 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.597T>C (p.Leu199=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664034] |
Chr16:23635949 [GRCh38]
Chr16:23647270 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1373C>G (p.Thr458Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664036] |
Chr16:23635173 [GRCh38]
Chr16:23646494 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.494G>C (p.Gly165Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664041] |
Chr16:23636052 [GRCh38]
Chr16:23647373 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1660G>T (p.Glu554Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664045] |
Chr16:23634886 [GRCh38]
Chr16:23646207 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.2353C>A (p.Pro785Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664030] |
Chr16:23629801 [GRCh38]
Chr16:23641122 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1145_1146insGTTG (p.Ser382fs) |
insertion |
Familial cancer of breast [RCV004589331] |
Chr16:23635400..23635401 [GRCh38]
Chr16:23646721..23646722 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.3255_3256delinsTT (p.Leu1085_Arg1086delinsPheTer) |
indel |
Familial cancer of breast [RCV004589366] |
Chr16:23607958..23607959 [GRCh38]
Chr16:23619279..23619280 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1975C>A (p.Leu659Met) |
single nucleotide variant |
Familial cancer of breast [RCV004574424] |
Chr16:23630179 [GRCh38]
Chr16:23641500 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3482T>C (p.Phe1161Ser) |
single nucleotide variant |
Familial cancer of breast [RCV004574435] |
Chr16:23603538 [GRCh38]
Chr16:23614859 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3248A>T (p.Glu1083Val) |
single nucleotide variant |
Familial cancer of breast [RCV004574436] |
Chr16:23607966 [GRCh38]
Chr16:23619287 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3101A>T (p.Asn1034Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650742] |
Chr16:23621374 [GRCh38]
Chr16:23632695 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.1453A>C (p.Thr485Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650743] |
Chr16:23635093 [GRCh38]
Chr16:23646414 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.261T>A (p.His87Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650744] |
Chr16:23636285 [GRCh38]
Chr16:23647606 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1073C>G (p.Pro358Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650745] |
Chr16:23635473 [GRCh38]
Chr16:23646794 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2997-1G>C |
single nucleotide variant |
Familial cancer of breast [RCV004589108] |
Chr16:23621479 [GRCh38]
Chr16:23632800 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1516del (p.Gln506fs) |
deletion |
Familial cancer of breast [RCV004589292] |
Chr16:23635030 [GRCh38]
Chr16:23646351 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1924dup (p.Met642fs) |
duplication |
Familial cancer of breast [RCV004574427] |
Chr16:23630229..23630230 [GRCh38]
Chr16:23641550..23641551 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1301A>G (p.Asp434Gly) |
single nucleotide variant |
Familial cancer of breast [RCV004574426] |
Chr16:23635245 [GRCh38]
Chr16:23646566 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.573_595dup (p.Leu199delinsGlnTer) |
duplication |
Familial cancer of breast [RCV004574432] |
Chr16:23635950..23635951 [GRCh38]
Chr16:23647271..23647272 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.515C>G (p.Ser172Cys) |
single nucleotide variant |
Familial cancer of breast [RCV004574431] |
Chr16:23636031 [GRCh38]
Chr16:23647352 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1596A>G (p.Pro532=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664040] |
Chr16:23634950 [GRCh38]
Chr16:23646271 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.3241G>C (p.Glu1081Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004664042] |
Chr16:23607973 [GRCh38]
Chr16:23619294 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2586+860_2749-723del |
deletion |
not provided [RCV004698266] |
Chr16:23624817..23628344 [GRCh38]
Chr16:23636138..23639665 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3114-795_3201+1238del |
deletion |
not provided [RCV004698267] |
Chr16:23612766..23614886 [GRCh38]
Chr16:23624087..23626207 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2252C>G (p.Ala751Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650739] |
Chr16:23629902 [GRCh38]
Chr16:23641223 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3088A>C (p.Thr1030Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650740] |
Chr16:23621387 [GRCh38]
Chr16:23632708 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2381_2387delinsC (p.Arg794_Gly796delinsThr) |
indel |
Hereditary cancer-predisposing syndrome [RCV004650741] |
Chr16:23629767..23629773 [GRCh38]
Chr16:23641088..23641094 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3320_3329delinsCCTG (p.Leu1107_Leu1110delinsProCys) |
indel |
Hereditary cancer-predisposing syndrome [RCV004650746] |
Chr16:23607885..23607894 [GRCh38]
Chr16:23619206..23619215 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.1976T>C (p.Leu659Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004650747] |
Chr16:23630178 [GRCh38]
Chr16:23641499 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3350+1G>C |
single nucleotide variant |
not provided [RCV004697935] |
Chr16:23607863 [GRCh38]
Chr16:23619184 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.2586G>A (p.Lys862=) |
single nucleotide variant |
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV004776343] |
Chr16:23629204 [GRCh38]
Chr16:23640525 [GRCh37] |
uncertain significance |
| NM_024675.4(PALB2):c.3351-3C>G |
single nucleotide variant |
not provided [RCV004771944] |
Chr16:23603672 [GRCh38]
Chr16:23614993 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3409A>G (p.Ile1137Val) |
single nucleotide variant |
not provided [RCV004769280] |
Chr16:23603611 [GRCh38]
Chr16:23614932 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.967G>T (p.Ala323Ser) |
single nucleotide variant |
not provided [RCV004759898] |
|
uncertain significance |
| NM_024675.4(PALB2):c.2822T>G (p.Ile941Ser) |
single nucleotide variant |
not provided [RCV004760175] |
|
uncertain significance |
| GRCh37/hg19 16p12.2(chr16:23619233-23625407)x1 |
copy number loss |
Fanconi anemia complementation group N [RCV004767716] |
Chr16:23619233..23625407 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3126T>A (p.Thr1042=) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV004764818] |
Chr16:23614079 [GRCh38]
Chr16:23625400 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_024675.4(PALB2):c.2053A>T (p.Lys685Ter) |
single nucleotide variant |
PALB2-related disorder [RCV004728151] |
Chr16:23630101 [GRCh38]
Chr16:23641422 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.3114G>T (p.Trp1038Cys) |
single nucleotide variant |
PALB2-related disorder [RCV004727840] |
Chr16:23614091 [GRCh38]
Chr16:23625412 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.82T>C (p.Tyr28His) |
single nucleotide variant |
not provided [RCV004759895] |
|
uncertain significance |
| NM_024675.4(PALB2):c.1549A>G (p.Lys517Glu) |
single nucleotide variant |
not provided [RCV004772771] |
Chr16:23634997 [GRCh38]
Chr16:23646318 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.2272delinsGA (p.Pro758fs) |
indel |
Familial cancer of breast [RCV004771729] |
Chr16:23629882 [GRCh38]
Chr16:23641203 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.1261A>G (p.Arg421Gly) |
single nucleotide variant |
not provided [RCV004719470] |
Chr16:23635285 [GRCh38]
Chr16:23646606 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3550C>A (p.His1184Asn) |
single nucleotide variant |
not provided [RCV004719472] |
Chr16:23603470 [GRCh38]
Chr16:23614791 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3086C>G (p.Thr1029Ser) |
single nucleotide variant |
not provided [RCV004769481] |
Chr16:23621389 [GRCh38]
Chr16:23632710 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3114-554_3166del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003360866] |
Chr16:23614039..23614645 [GRCh38]
Chr16:23625360..23625966 [GRCh37]
Chr16:16p12.2 |
likely pathogenic |
| NM_024675.4(PALB2):c.264del (p.Asp89fs) |
deletion |
Familial cancer of breast [RCV003455487]|Hereditary cancer-predisposing syndrome [RCV002453048] |
Chr16:23636282 [GRCh38]
Chr16:23647603 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_024675.4(PALB2):c.1779T>G (p.His593Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003337718] |
Chr16:23630375 [GRCh38]
Chr16:23641696 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_024675.4(PALB2):c.3294G>C (p.Lys1098Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003360864] |
Chr16:23607920 [GRCh38]
Chr16:23619241 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
