| NM_005732.4(RAD50):c.2646A>G (p.Gln882=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568780] |
Chr5:132604927 [GRCh38]
Chr5:131940619 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2802T>C (p.Asn934=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564781] |
Chr5:132608698 [GRCh38]
Chr5:131944390 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556461] |
Chr5:132595813 [GRCh38]
Chr5:131931505 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3346C>T (p.Leu1116Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561122] |
Chr5:132618251 [GRCh38]
Chr5:131953943 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.820G>T (p.Ala274Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000549600] |
Chr5:132587625 [GRCh38]
Chr5:131923317 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2605G>T (p.Glu869Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563233] |
Chr5:132604886 [GRCh38]
Chr5:131940578 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3634A>G (p.Ile1212Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000546044] |
Chr5:132640687 [GRCh38]
Chr5:131976379 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2219T>C (p.Ile740Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564924] |
Chr5:132603311 [GRCh38]
Chr5:131939003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.558T>A (p.Ile186=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563530] |
Chr5:132579868 [GRCh38]
Chr5:131915560 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3647C>G (p.Ala1216Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561561] |
Chr5:132640700 [GRCh38]
Chr5:131976392 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132603294)_(132605005_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000546604] |
Chr5:132603294..132605005 [GRCh38]
Chr5:131938986..131940697 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA |
indel |
Hereditary cancer-predisposing syndrome [RCV000563637] |
Chr5:132587920..132587928 [GRCh38]
Chr5:131923612..131923620 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3488T>C (p.Ile1163Thr) |
single nucleotide variant |
Familial cancer of breast [RCV004556804]|Hereditary cancer-predisposing syndrome [RCV000524584] |
Chr5:132638093 [GRCh38]
Chr5:131973785 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.372T>C (p.Gly124=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561652] |
Chr5:132579323 [GRCh38]
Chr5:131915015 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3764G>A (p.Ser1255Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563834]|Nijmegen breakage syndrome-like disorder [RCV002506382] |
Chr5:132642189 [GRCh38]
Chr5:131977881 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1894G>A (p.Val632Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000557918] |
Chr5:132594969 [GRCh38]
Chr5:131930661 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3908G>C (p.Ser1303Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562050] |
Chr5:132642333 [GRCh38]
Chr5:131978025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000532492] |
Chr5:132605002 [GRCh38]
Chr5:131940694 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565429] |
Chr5:132587673 [GRCh38]
Chr5:131923365 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2006T>G (p.Phe669Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000549461] |
Chr5:132595609 [GRCh38]
Chr5:131931301 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1315C>T (p.Leu439=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567761] |
Chr5:132589700 [GRCh38]
Chr5:131925392 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3318A>T (p.Glu1106Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565499] |
Chr5:132618223 [GRCh38]
Chr5:131953915 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565594] |
Chr5:132595814 [GRCh38]
Chr5:131931506 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV000562287]|Nijmegen breakage syndrome-like disorder [RCV001783074] |
Chr5:132591390..132591391 [GRCh38]
Chr5:131927082..131927083 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3191T>C (p.Ile1064Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000539261]|Nijmegen breakage syndrome-like disorder [RCV002257789]|not provided [RCV003478131] |
Chr5:132618096 [GRCh38]
Chr5:131953788 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.34G>A (p.Val12Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000542137]|Neuroepithelial tumor, PATZ1 fusion-positive [RCV003313092] |
Chr5:132557358 [GRCh38]
Chr5:131893050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.928A>G (p.Asn310Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566802] |
Chr5:132587966 [GRCh38]
Chr5:131923658 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1972A>T (p.Met658Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562560] |
Chr5:132595575 [GRCh38]
Chr5:131931267 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001271002]|Hereditary cancer-predisposing syndrome [RCV000562607]|Nijmegen breakage syndrome-like disorder [RCV003470837]|not provided [RCV001091585] |
Chr5:132616016 [GRCh38]
Chr5:131951708 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.757-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564604] |
Chr5:132587558 [GRCh38]
Chr5:131923250 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3522A>G (p.Ser1174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564645] |
Chr5:132638127 [GRCh38]
Chr5:131973819 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.845T>A (p.Met282Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566145] |
Chr5:132587650 [GRCh38]
Chr5:131923342 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2004G>A (p.Gln668=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000528215] |
Chr5:132595607 [GRCh38]
Chr5:131931299 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1201A>T (p.Arg401Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000550668] |
Chr5:132588836 [GRCh38]
Chr5:131924528 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3696G>A (p.Glu1232=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000550737] |
Chr5:132640749 [GRCh38]
Chr5:131976441 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.686G>C (p.Ser229Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567048] |
Chr5:132579996 [GRCh38]
Chr5:131915688 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2340T>G (p.Pro780=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563160] |
Chr5:132603432 [GRCh38]
Chr5:131939124 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.263A>G (p.Asp88Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000546319] |
Chr5:132575826 [GRCh38]
Chr5:131911518 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3650T>C (p.Leu1217Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563577] |
Chr5:132640703 [GRCh38]
Chr5:131976395 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1018A>C (p.Asn340His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000530784] |
Chr5:132588056 [GRCh38]
Chr5:131923748 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1718A>C (p.Lys573Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563781] |
Chr5:132591959 [GRCh38]
Chr5:131927651 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1076G>A (p.Arg359His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568034]|Nijmegen breakage syndrome-like disorder [RCV003459369] |
Chr5:132588711 [GRCh38]
Chr5:131924403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3733C>G (p.Leu1245Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560996] |
Chr5:132640786 [GRCh38]
Chr5:131976478 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566085]|Nijmegen breakage syndrome-like disorder [RCV002257845] |
Chr5:132594868 [GRCh38]
Chr5:131930560 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.379_383del (p.Val127fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000528279] |
Chr5:132579328..132579332 [GRCh38]
Chr5:131915020..131915024 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.450G>A (p.Val150=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568215] |
Chr5:132579401 [GRCh38]
Chr5:131915093 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1213G>T (p.Glu405Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561243] |
Chr5:132588848 [GRCh38]
Chr5:131924540 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3687C>T (p.Ala1229=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000533717] |
Chr5:132640740 [GRCh38]
Chr5:131976432 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1515A>G (p.Ile505Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564177] |
Chr5:132591286 [GRCh38]
Chr5:131926978 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2344G>C (p.Glu782Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564216]|Nijmegen breakage syndrome-like disorder [RCV004569242] |
Chr5:132603436 [GRCh38]
Chr5:131939128 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.687T>C (p.Ser229=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566383] |
Chr5:132579997 [GRCh38]
Chr5:131915689 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3712G>C (p.Asp1238His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561428] |
Chr5:132640765 [GRCh38]
Chr5:131976457 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3278G>A (p.Arg1093Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561477] |
Chr5:132618183 [GRCh38]
Chr5:131953875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3292C>T (p.Arg1098Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566567]|Nijmegen breakage syndrome-like disorder [RCV005034133] |
Chr5:132618197 [GRCh38]
Chr5:131953889 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.467T>G (p.Phe156Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568472]|Nijmegen breakage syndrome-like disorder [RCV000764573] |
Chr5:132579418 [GRCh38]
Chr5:131915110 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2397+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000548056] |
Chr5:132603497 [GRCh38]
Chr5:131939189 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.75C>T (p.Ile25=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000548078] |
Chr5:132557399 [GRCh38]
Chr5:131893091 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.207T>C (p.Asp69=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000542677] |
Chr5:132559361 [GRCh38]
Chr5:131895053 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.412C>A (p.Arg138=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564554] |
Chr5:132579363 [GRCh38]
Chr5:131915055 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3599G>A (p.Arg1200Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564619] |
Chr5:132638204 [GRCh38]
Chr5:131973896 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1350A>G (p.Leu450=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567035] |
Chr5:132589735 [GRCh38]
Chr5:131925427 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2314del (p.Glu772fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000567062]|Nijmegen breakage syndrome-like disorder [RCV003470839] |
Chr5:132603406 [GRCh38]
Chr5:131939098 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2250A>T (p.Leu750Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565200] |
Chr5:132603342 [GRCh38]
Chr5:131939034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2592A>G (p.Lys864=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562448] |
Chr5:132604873 [GRCh38]
Chr5:131940565 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3197A>G (p.Asn1066Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562650] |
Chr5:132618102 [GRCh38]
Chr5:131953794 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2305G>A (p.Glu769Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562956] |
Chr5:132603397 [GRCh38]
Chr5:131939089 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1209A>G (p.Arg403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567457] |
Chr5:132588844 [GRCh38]
Chr5:131924536 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000532614]|Nijmegen breakage syndrome-like disorder [RCV003470724] |
Chr5:132579986 [GRCh38]
Chr5:131915678 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.55G>A (p.Asp19Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569157] |
Chr5:132557379 [GRCh38]
Chr5:131893071 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2801dup (p.Asn934fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000569212]|Nijmegen breakage syndrome-like disorder [RCV003470838] |
Chr5:132608689..132608690 [GRCh38]
Chr5:131944381..131944382 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000030957]|Nijmegen breakage syndrome-like disorder [RCV005031464]|not provided [RCV001091584] |
Chr5:132608717 [GRCh38]
Chr5:131944409 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000030959]|Nijmegen breakage syndrome-like disorder [RCV003330403]|not provided [RCV004998113] |
Chr5:132638113 [GRCh38]
Chr5:131973805 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000030960]|Nijmegen breakage syndrome-like disorder [RCV002258782]|not provided [RCV003476905]|not specified [RCV001375596] |
Chr5:132591904 [GRCh38]
Chr5:131927596 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.980G>A (p.Arg327His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115966]|Nijmegen breakage syndrome-like disorder [RCV000409977]|RAD50-related disorder [RCV003924871]|not provided [RCV000656959]|not specified [RCV000193234] |
Chr5:132588018 [GRCh38]
Chr5:131923710 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.3036+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115952]|Nijmegen breakage syndrome-like disorder [RCV000412309]|not provided [RCV000514683]|not specified [RCV000203146] |
Chr5:132609401 [GRCh38]
Chr5:131945093 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003315525]|Hereditary cancer-predisposing syndrome [RCV000030963]|Nijmegen breakage syndrome-like disorder [RCV000409597]|not provided [RCV000442405]|not specified [RCV000195197] |
Chr5:132579882 [GRCh38]
Chr5:131915574 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2585A>G (p.His862Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000030964]|Nijmegen breakage syndrome-like disorder [RCV004566757] |
Chr5:132604866 [GRCh38]
Chr5:131940558 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000160911]|Nijmegen breakage syndrome-like disorder [RCV000409247]|not provided [RCV000589524]|not specified [RCV000212928] |
Chr5:132642304 [GRCh38]
Chr5:131977996 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_005732.4(RAD50):c.2910C>T (p.Asp970=) |
single nucleotide variant |
Familial cancer of breast [RCV003315526]|Hereditary cancer-predisposing syndrome [RCV000162538]|Nijmegen breakage syndrome-like disorder [RCV000411437]|not provided [RCV001705612]|not specified [RCV000780658] |
Chr5:132609197 [GRCh38]
Chr5:131944889 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575384]|Nijmegen breakage syndrome-like disorder [RCV000006230] |
Chr5:132618182 [GRCh38]
Chr5:131953874 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001229599]|Nijmegen breakage syndrome-like disorder [RCV000006231] |
Chr5:132642364 [GRCh38]
Chr5:131978056 [GRCh37]
Chr5:5q31.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.418A>G (p.Met140Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000542855] |
Chr5:132579369 [GRCh38]
Chr5:131915061 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2499A>G (p.Gln833=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552241] |
Chr5:132604021 [GRCh38]
Chr5:131939713 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3755T>A (p.Ile1252Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001870630] |
Chr5:132642180 [GRCh38]
Chr5:131977872 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.934C>A (p.Gln312Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562076] |
Chr5:132587972 [GRCh38]
Chr5:131923664 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000544544] |
Chr5:132605003 [GRCh38]
Chr5:131940695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2664G>A (p.Glu888=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563336] |
Chr5:132604945 [GRCh38]
Chr5:131940637 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3083A>T (p.Asn1028Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563481] |
Chr5:132616049 [GRCh38]
Chr5:131951741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.494C>T (p.Pro165Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562795]|Nijmegen breakage syndrome-like disorder [RCV003459335]|not provided [RCV004691923] |
Chr5:132579445 [GRCh38]
Chr5:131915137 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1669T>G (p.Ser557Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564033] |
Chr5:132591910 [GRCh38]
Chr5:131927602 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1524A>G (p.Gln508=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564077] |
Chr5:132591295 [GRCh38]
Chr5:131926987 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000526307]|Nijmegen breakage syndrome-like disorder [RCV000763129] |
Chr5:132595719 [GRCh38]
Chr5:131931411 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1394A>C (p.Gln465Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563878] |
Chr5:132589779 [GRCh38]
Chr5:131925471 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3676G>A (p.Gly1226Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000525818] |
Chr5:132640729 [GRCh38]
Chr5:131976421 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3137G>C (p.Gly1046Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561312] |
Chr5:132616103 [GRCh38]
Chr5:131951795 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+9G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000543131] |
Chr5:132559376 [GRCh38]
Chr5:131895068 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1826dup (p.Asn609fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000561558] |
Chr5:132594896..132594897 [GRCh38]
Chr5:131930588..131930589 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.615A>G (p.Glu205=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552855] |
Chr5:132579925 [GRCh38]
Chr5:131915617 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.152A>G (p.Tyr51Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563854] |
Chr5:132559306 [GRCh38]
Chr5:131894998 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.983A>G (p.Glu328Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000524691] |
Chr5:132588021 [GRCh38]
Chr5:131923713 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.756_756+2delinsTG |
indel |
Hereditary cancer-predisposing syndrome [RCV000564020] |
Chr5:132580066..132580068 [GRCh38]
Chr5:131915758..131915760 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000564213]|not provided [RCV003237931]|not specified [RCV002222553] |
Chr5:132642300..132642301 [GRCh38]
Chr5:131977992..131977993 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1230T>C (p.Thr410=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564248] |
Chr5:132588865 [GRCh38]
Chr5:131924557 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2008A>G (p.Ile670Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000525535]|Nijmegen breakage syndrome-like disorder [RCV004568732] |
Chr5:132595611 [GRCh38]
Chr5:131931303 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.62A>T (p.Asp21Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560964] |
Chr5:132557386 [GRCh38]
Chr5:131893078 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2198T>C (p.Val733Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565997] |
Chr5:132595801 [GRCh38]
Chr5:131931493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3579A>G (p.Thr1193=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564438] |
Chr5:132638184 [GRCh38]
Chr5:131973876 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1054C>T (p.Arg352Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561827] |
Chr5:132588689 [GRCh38]
Chr5:131924381 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3000T>C (p.Asp1000=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000546546]|RAD50-related disorder [RCV003962472] |
Chr5:132609360 [GRCh38]
Chr5:131945052 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1680T>A (p.Ser560Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000555468] |
Chr5:132591921 [GRCh38]
Chr5:131927613 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.137T>C (p.Ile46Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000549208] |
Chr5:132559291 [GRCh38]
Chr5:131894983 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.965T>C (p.Leu322Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566580] |
Chr5:132588003 [GRCh38]
Chr5:131923695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.245T>A (p.Ile82Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562397] |
Chr5:132575808 [GRCh38]
Chr5:131911500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1174C>G (p.Gln392Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562400] |
Chr5:132588809 [GRCh38]
Chr5:131924501 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1453-4C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562413] |
Chr5:132591220 [GRCh38]
Chr5:131926912 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.128C>T (p.Thr43Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562508] |
Chr5:132557452 [GRCh38]
Chr5:131893144 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1248T>C (p.Asn416=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561222] |
Chr5:132589633 [GRCh38]
Chr5:131925325 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.633A>G (p.Lys211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562553] |
Chr5:132579943 [GRCh38]
Chr5:131915635 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3228G>A (p.Gly1076=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563378] |
Chr5:132618133 [GRCh38]
Chr5:131953825 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-5T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562998] |
Chr5:132594864 [GRCh38]
Chr5:131930556 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.739G>A (p.Glu247Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000529552] |
Chr5:132580049 [GRCh38]
Chr5:131915741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2448A>G (p.Leu816=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567178] |
Chr5:132603970 [GRCh38]
Chr5:131939662 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2313A>C (p.Gln771His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565830] |
Chr5:132603405 [GRCh38]
Chr5:131939097 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3483del (p.Glu1161fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000567302] |
Chr5:132638087 [GRCh38]
Chr5:131973779 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3778C>T (p.Arg1260Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552275]|Nijmegen breakage syndrome-like disorder [RCV003459188] |
Chr5:132642203 [GRCh38]
Chr5:131977895 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3274C>T (p.Leu1092Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000544012] |
Chr5:132618179 [GRCh38]
Chr5:131953871 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.349G>T (p.Val117Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562368]|Nijmegen breakage syndrome-like disorder [RCV001535562] |
Chr5:132575912 [GRCh38]
Chr5:131911604 [GRCh37]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.3897T>C (p.Ile1299=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561436] |
Chr5:132642322 [GRCh38]
Chr5:131978014 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2534dup (p.Ile846fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000565538] |
Chr5:132604813..132604814 [GRCh38]
Chr5:131940505..131940506 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.715G>C (p.Glu239Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567565]|Nijmegen breakage syndrome-like disorder [RCV003459334] |
Chr5:132580025 [GRCh38]
Chr5:131915717 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2372A>C (p.Asp791Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000527393] |
Chr5:132603464 [GRCh38]
Chr5:131939156 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2619G>A (p.Glu873=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564751]|not provided [RCV003478217] |
Chr5:132604900 [GRCh38]
Chr5:131940592 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2344G>A (p.Glu782Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562250] |
Chr5:132603436 [GRCh38]
Chr5:131939128 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1242G>A (p.Leu414=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001477707] |
Chr5:132588877 [GRCh38]
Chr5:131924569 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1077C>T (p.Arg359=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565815] |
Chr5:132588712 [GRCh38]
Chr5:131924404 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.952A>G (p.Lys318Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568059] |
Chr5:132587990 [GRCh38]
Chr5:131923682 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1817A>G (p.Gln606Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000558289] |
Chr5:132594892 [GRCh38]
Chr5:131930584 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3099A>G (p.Glu1033=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000550264] |
Chr5:132616065 [GRCh38]
Chr5:131951757 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3313A>G (p.Arg1105Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566013] |
Chr5:132618218 [GRCh38]
Chr5:131953910 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2598A>G (p.Thr866=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562701] |
Chr5:132604879 [GRCh38]
Chr5:131940571 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1398G>A (p.Gln466=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568376] |
Chr5:132589783 [GRCh38]
Chr5:131925475 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1247A>G (p.Asn416Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568468] |
Chr5:132589632 [GRCh38]
Chr5:131925324 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) |
single nucleotide variant |
Breast carcinoma [RCV001554329]|Hereditary cancer-predisposing syndrome [RCV000562976]|Nijmegen breakage syndrome-like disorder [RCV003465247]|not provided [RCV004808789] |
Chr5:132595617 [GRCh38]
Chr5:131931309 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1246-10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000551094] |
Chr5:132589621 [GRCh38]
Chr5:131925313 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1805C>T (p.Ala602Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000545751]|Nijmegen breakage syndrome-like disorder [RCV004568731]|not provided [RCV005000129] |
Chr5:132594880 [GRCh38]
Chr5:131930572 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-6C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000528739] |
Chr5:132603914 [GRCh38]
Chr5:131939606 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+4A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566848] |
Chr5:132604050 [GRCh38]
Chr5:131939742 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2000C>T (p.Ser667Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564980] |
Chr5:132595603 [GRCh38]
Chr5:131931295 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.688A>C (p.Lys230Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563764] |
Chr5:132579998 [GRCh38]
Chr5:131915690 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1275A>G (p.Lys425=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000527089] |
Chr5:132589660 [GRCh38]
Chr5:131925352 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3836G>T (p.Arg1279Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565003] |
Chr5:132642261 [GRCh38]
Chr5:131977953 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2745G>C (p.Leu915Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556710] |
Chr5:132608641 [GRCh38]
Chr5:131944333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1283A>G (p.Gln428Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552318] |
Chr5:132589668 [GRCh38]
Chr5:131925360 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3876C>T (p.Asn1292=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000531182] |
Chr5:132642301 [GRCh38]
Chr5:131977993 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.57C>T (p.Asp19=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567398] |
Chr5:132557381 [GRCh38]
Chr5:131893073 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1256C>T (p.Ala419Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567405] |
Chr5:132589641 [GRCh38]
Chr5:131925333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2886G>A (p.Glu962=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000541526] |
Chr5:132609173 [GRCh38]
Chr5:131944865 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1670C>G (p.Ser557Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000525758]|not provided [RCV005000128] |
Chr5:132591911 [GRCh38]
Chr5:131927603 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.657A>G (p.Lys219=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561250] |
Chr5:132579967 [GRCh38]
Chr5:131915659 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2899del (p.Asp967fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000564695] |
Chr5:132609186 [GRCh38]
Chr5:131944878 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.226A>G (p.Thr76Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564636] |
Chr5:132575789 [GRCh38]
Chr5:131911481 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 |
copy number loss |
See cases [RCV000052109] |
Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1 |
pathogenic |
| GRCh38/hg38 5q31.1(chr5:132301874-134187817)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053312]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053312]|See cases [RCV000053312] |
Chr5:132301874..134187817 [GRCh38]
Chr5:131637567..133523508 [GRCh37]
Chr5:131665466..133551407 [NCBI36]
Chr5:5q31.1 |
uncertain significance |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2 |
pathogenic |
| GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 |
copy number loss |
See cases [RCV000053525] |
Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3786C>T (p.Phe1262=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363901] |
Chr5:132642211 [GRCh38]
Chr5:131977903 [GRCh37]
Chr5:132005802 [NCBI36]
Chr5:5q31.1 |
likely benign|not provided |
| NM_005732.4(RAD50):c.2156dup (p.Glu723fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000030958] |
Chr5:132595758..132595759 [GRCh38]
Chr5:131931450..131931451 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.-284C>A |
single nucleotide variant |
not provided [RCV000114858] |
Chr5:132557041 [GRCh38]
Chr5:131892733 [GRCh37]
Chr5:131920632 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.213+73A>C |
single nucleotide variant |
not provided [RCV000114859] |
Chr5:132559440 [GRCh38]
Chr5:131895132 [GRCh37]
Chr5:131923031 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.214-44G>A |
single nucleotide variant |
Familial cancer of breast [RCV003315626]|Nijmegen breakage syndrome-like disorder [RCV000409669]|not provided [RCV000114860] |
Chr5:132575733 [GRCh38]
Chr5:131911425 [GRCh37]
Chr5:131939324 [NCBI36]
Chr5:5q31.1 |
benign|not provided |
| NM_005732.4(RAD50):c.366-163T>C |
single nucleotide variant |
not provided [RCV000114861] |
Chr5:132579154 [GRCh38]
Chr5:131914846 [GRCh37]
Chr5:131942745 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.494C>A (p.Pro165His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000536422]|not provided [RCV000114862] |
Chr5:132579445 [GRCh38]
Chr5:131915137 [GRCh37]
Chr5:131943036 [NCBI36]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.551+85A>G |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV000410604]|not provided [RCV000114863] |
Chr5:132579587 [GRCh38]
Chr5:131915279 [GRCh37]
Chr5:131943178 [NCBI36]
Chr5:5q31.1 |
benign|not provided |
| NM_005732.4(RAD50):c.1052-38C>T |
single nucleotide variant |
Familial cancer of breast [RCV003315627]|Nijmegen breakage syndrome-like disorder [RCV000411711]|not provided [RCV000114864] |
Chr5:132588649 [GRCh38]
Chr5:131924341 [GRCh37]
Chr5:131952240 [NCBI36]
Chr5:5q31.1 |
benign|not provided |
| NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566508]|Nijmegen breakage syndrome-like disorder [RCV003460797]|not provided [RCV000114865] |
Chr5:132588749 [GRCh38]
Chr5:131924441 [GRCh37]
Chr5:131952340 [NCBI36]
Chr5:5q31.1 |
pathogenic|likely pathogenic|not provided |
| NM_005732.4(RAD50):c.2719-31A>G |
single nucleotide variant |
not provided [RCV000114866] |
Chr5:132608584 [GRCh38]
Chr5:131944276 [GRCh37]
Chr5:131972175 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.3164+35C>T |
single nucleotide variant |
not provided [RCV000114867] |
Chr5:132616165 [GRCh38]
Chr5:131951857 [GRCh37]
Chr5:131979756 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.3165-155A>T |
single nucleotide variant |
not provided [RCV000114868] |
Chr5:132617915 [GRCh38]
Chr5:131953607 [GRCh37]
Chr5:131981506 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.3165-4A>T |
single nucleotide variant |
Familial cancer of breast [RCV003315628]|Hereditary cancer-predisposing syndrome [RCV000129117]|Nijmegen breakage syndrome-like disorder [RCV000410040]|not provided [RCV000114869]|not specified [RCV000212923] |
Chr5:132618066 [GRCh38]
Chr5:131953758 [GRCh37]
Chr5:131981657 [NCBI36]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) |
single nucleotide variant |
Familial cancer of breast [RCV004776432]|Hereditary cancer-predisposing syndrome [RCV000129882]|Nijmegen breakage syndrome-like disorder [RCV003483474]|not provided [RCV000114870]|not specified [RCV001174803] |
Chr5:132618135 [GRCh38]
Chr5:131953827 [GRCh37]
Chr5:131981726 [NCBI36]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.3618+90C>T |
single nucleotide variant |
not provided [RCV000114871] |
Chr5:132638313 [GRCh38]
Chr5:131974005 [GRCh37]
Chr5:132001904 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.3684T>C (p.Ile1228=) |
single nucleotide variant |
not provided [RCV000114872] |
Chr5:132640737 [GRCh38]
Chr5:131976429 [GRCh37]
Chr5:132004328 [NCBI36]
Chr5:5q31.1 |
not provided |
| NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) |
single nucleotide variant |
Familial cancer of breast [RCV001535589]|Familial cancer of breast [RCV003242983]|Hereditary breast ovarian cancer syndrome [RCV001030501]|Hereditary cancer-predisposing syndrome [RCV000115926]|Nijmegen breakage syndrome-like disorder [RCV000515281]|Ovarian cancer [RCV003153375]|RAD50-related disorder [RCV003407501]|not provided [RCV000212907]|not specified [RCV001199877] |
Chr5:132588729 [GRCh38]
Chr5:131924421 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_005732.4(RAD50):c.1117T>G (p.Ser373Ala) |
single nucleotide variant |
not provided [RCV000115927] |
Chr5:132588752 [GRCh38]
Chr5:131924444 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030502]|Hereditary cancer-predisposing syndrome [RCV000115928]|Nijmegen breakage syndrome-like disorder [RCV000409378]|RAD50-related disorder [RCV003894952]|not provided [RCV000212908]|not specified [RCV001818281] |
Chr5:132588846 [GRCh38]
Chr5:131924538 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) |
single nucleotide variant |
Familial cancer of breast [RCV004556720]|Hereditary cancer-predisposing syndrome [RCV000115929]|Nijmegen breakage syndrome-like disorder [RCV000515382]|RAD50-related disorder [RCV004751267]|not provided [RCV000212909]|not specified [RCV001175422] |
Chr5:132589662 [GRCh38]
Chr5:131925354 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1300_1306dup (p.Lys436delinsArgTer) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000115930] |
Chr5:132589675..132589676 [GRCh38]
Chr5:131925367..131925368 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1328T>C (p.Ile443Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000705491]|not provided [RCV000115931] |
Chr5:132589713 [GRCh38]
Chr5:131925405 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.137T>A (p.Ile46Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001369003]|not provided [RCV000115932] |
Chr5:132559291 [GRCh38]
Chr5:131894983 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222369]|Nijmegen breakage syndrome-like disorder [RCV001781445] |
Chr5:132589778 [GRCh38]
Chr5:131925470 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115934]|Nijmegen breakage syndrome-like disorder [RCV000409459]|RAD50-related disorder [RCV003915126]|not provided [RCV000656960]|not specified [RCV000212910] |
Chr5:132591305 [GRCh38]
Chr5:131926997 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.1838A>G (p.Asn613Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803429]|not provided [RCV000115935] |
Chr5:132594913 [GRCh38]
Chr5:131930605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115936]|Nijmegen breakage syndrome-like disorder [RCV004567025]|not provided [RCV000212911]|not specified [RCV001290539] |
Chr5:132594986 [GRCh38]
Chr5:131930678 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2177G>A (p.Arg726His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115937]|Nijmegen breakage syndrome-like disorder [RCV000515380]|Premature ovarian insufficiency [RCV000766182]|RAD50-related disorder [RCV003398714]|not provided [RCV000212914]|not specified [RCV001818282] |
Chr5:132595780 [GRCh38]
Chr5:131931472 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2213G>A (p.Ser738Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566515]|RAD50-related disorder [RCV004730875]|not provided [RCV000115938]|not specified [RCV004800293] |
Chr5:132603305 [GRCh38]
Chr5:131938997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2288G>A (p.Arg763His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115939]|Nijmegen breakage syndrome-like disorder [RCV001762238]|RAD50-related disorder [RCV004751268]|not provided [RCV000212915]|not specified [RCV002228349] |
Chr5:132603380 [GRCh38]
Chr5:131939072 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.2397G>C (p.Gln799His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115940]|Nijmegen breakage syndrome-like disorder [RCV000662916]|Nijmegen breakage syndrome-like disorder [RCV001535641]|RAD50-related disorder [RCV004751269]|not provided [RCV000212916]|not specified [RCV001797627] |
Chr5:132603489 [GRCh38]
Chr5:131939181 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115941]|Nijmegen breakage syndrome-like disorder [RCV002257408]|not provided [RCV000212917]|not specified [RCV001264454] |
Chr5:132604806 [GRCh38]
Chr5:131940498 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115942]|Nijmegen breakage syndrome-like disorder [RCV000765806]|RAD50-related disorder [RCV003905103]|not provided [RCV000212918]|not specified [RCV003155078] |
Chr5:132604829 [GRCh38]
Chr5:131940521 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.260G>A (p.Arg87His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115943]|Nijmegen breakage syndrome-like disorder [RCV000662847]|not provided [RCV000656958]|not specified [RCV000212900] |
Chr5:132575823 [GRCh38]
Chr5:131911515 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003997299]|Hereditary cancer-predisposing syndrome [RCV000115944]|Nijmegen breakage syndrome-like disorder [RCV000515220]|not provided [RCV000212919]|not specified [RCV002469013] |
Chr5:132604928 [GRCh38]
Chr5:131940620 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2651G>A (p.Arg884His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115945]|not provided [RCV000212920]|not specified [RCV004689612] |
Chr5:132604932 [GRCh38]
Chr5:131940624 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.265G>A (p.Val89Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115946]|Nijmegen breakage syndrome-like disorder [RCV002483187]|not provided [RCV000212901] |
Chr5:132575828 [GRCh38]
Chr5:131911520 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115947]|Nijmegen breakage syndrome-like disorder [RCV003460832]|not provided [RCV000212921]|not specified [RCV001174753] |
Chr5:132608646 [GRCh38]
Chr5:131944338 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003315644]|Hereditary cancer-predisposing syndrome [RCV000115948]|Nijmegen breakage syndrome-like disorder [RCV000410963]|not provided [RCV000857578]|not specified [RCV000193160] |
Chr5:132575843 [GRCh38]
Chr5:131911535 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115949]|Nijmegen breakage syndrome-like disorder [RCV000410140]|not provided [RCV000212922]|not specified [RCV001194193] |
Chr5:132609127 [GRCh38]
Chr5:131944819 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2929_2932del (p.Glu977fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000115950] |
Chr5:132609286..132609289 [GRCh38]
Chr5:131944978..131944981 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000115951]|Neoplasm of the skin [RCV001554265]|Nijmegen breakage syndrome-like disorder [RCV001781446] |
Chr5:132609340..132609343 [GRCh38]
Chr5:131945032..131945035 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115953]|Nijmegen breakage syndrome-like disorder [RCV002257409]|not provided [RCV000235202]|not specified [RCV000781784] |
Chr5:132618158 [GRCh38]
Chr5:131953850 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.326_329del (p.Thr109fs) |
deletion |
Breast carcinoma [RCV001554266]|Hereditary cancer-predisposing syndrome [RCV000115954]|Nijmegen breakage syndrome-like disorder [RCV003467063]|RAD50-related disorder [RCV004751270]|not provided [RCV000497298] |
Chr5:132575886..132575889 [GRCh38]
Chr5:131911578..131911581 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.3310T>C (p.Tyr1104His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472813]|Nijmegen breakage syndrome-like disorder [RCV004567026]|not provided [RCV000115955] |
Chr5:132618215 [GRCh38]
Chr5:131953907 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115956]|Nijmegen breakage syndrome-like disorder [RCV002257410]|RAD50-related disorder [RCV003398715]|not provided [RCV000212924]|not specified [RCV001824612] |
Chr5:132637180 [GRCh38]
Chr5:131972872 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115957]|Nijmegen breakage syndrome-like disorder [RCV000765810]|not provided [RCV000212925] |
Chr5:132637192 [GRCh38]
Chr5:131972884 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3777G>T (p.Gln1259His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021110]|not provided [RCV000115958] |
Chr5:132642202 [GRCh38]
Chr5:131977894 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3789G>C (p.Gln1263His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115959]|Nijmegen breakage syndrome-like disorder [RCV004567027]|not provided [RCV000212926] |
Chr5:132642214 [GRCh38]
Chr5:131977906 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.379G>A (p.Val127Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115960]|Nijmegen breakage syndrome-like disorder [RCV000409627]|not provided [RCV000590280]|not specified [RCV001818283] |
Chr5:132579330 [GRCh38]
Chr5:131915022 [GRCh37]
Chr5:5q31.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115961]|Nijmegen breakage syndrome-like disorder [RCV001781448] |
Chr5:132557327 [GRCh38]
Chr5:131893019 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_005732.4(RAD50):c.625G>C (p.Glu209Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115962]|Nijmegen breakage syndrome-like disorder [RCV003460833]|not provided [RCV000212903]|not specified [RCV002469014] |
Chr5:132579935 [GRCh38]
Chr5:131915627 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.671G>A (p.Arg224His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115963]|Nijmegen breakage syndrome-like disorder [RCV001762239]|RAD50-related disorder [RCV003925118]|not provided [RCV000731878]|not specified [RCV001174561] |
Chr5:132579981 [GRCh38]
Chr5:131915673 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.673G>A (p.Asp225Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115964]|Nijmegen breakage syndrome-like disorder [RCV002257411]|not provided [RCV000212905] |
Chr5:132579983 [GRCh38]
Chr5:131915675 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.943G>T (p.Val315Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000115965]|Nijmegen breakage syndrome-like disorder [RCV002257412]|not provided [RCV000766671]|not specified [RCV000212906] |
Chr5:132587981 [GRCh38]
Chr5:131923673 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_005732.4(RAD50):c.2939T>G (p.Leu980Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000529724] |
Chr5:132609299 [GRCh38]
Chr5:131944991 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.94A>T (p.Thr32Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000542455] |
Chr5:132557418 [GRCh38]
Chr5:131893110 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1513A>G (p.Ile505Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165045]|Malignant tumor of prostate [RCV000149176]|not provided [RCV003477566] |
Chr5:132591284 [GRCh38]
Chr5:131926976 [GRCh37]
Chr5:5q31.1 |
pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.2277A>C (p.Arg759Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001348103] |
Chr5:132603369 [GRCh38]
Chr5:131939061 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-6del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002070112]|not provided [RCV001655713]|not specified [RCV001290581] |
Chr5:132588672 [GRCh38]
Chr5:131924364 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3392C>A (p.Ala1131Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001348370] |
Chr5:132637117 [GRCh38]
Chr5:131972809 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.416A>G (p.Glu139Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001349075] |
Chr5:132579367 [GRCh38]
Chr5:131915059 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2686A>G (p.Thr896Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129925] |
Chr5:132604967 [GRCh38]
Chr5:131940659 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3076A>C (p.Lys1026Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129944] |
Chr5:132616042 [GRCh38]
Chr5:131951734 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129946] |
Chr5:132594868 [GRCh38]
Chr5:131930560 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1522C>G (p.Gln508Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129955] |
Chr5:132591293 [GRCh38]
Chr5:131926985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1456C>T (p.Arg486Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130131] |
Chr5:132591227 [GRCh38]
Chr5:131926919 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2791A>C (p.Asn931His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130212] |
Chr5:132608687 [GRCh38]
Chr5:131944379 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130243]|Nijmegen breakage syndrome-like disorder [RCV001535645]|RAD50-related disorder [RCV003965074] |
Chr5:132595033 [GRCh38]
Chr5:131930725 [GRCh37]
Chr5:5q31.1 |
pathogenic|not provided |
| NM_005732.4(RAD50):c.3618+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130277] |
Chr5:132638224 [GRCh38]
Chr5:131973916 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000130289]|Nijmegen breakage syndrome-like disorder [RCV001781470]|not provided [RCV003422024] |
Chr5:132608683..132608686 [GRCh38]
Chr5:131944375..131944378 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130305]|Nijmegen breakage syndrome-like disorder [RCV002257456]|RAD50-related disorder [RCV004751277]|not provided [RCV003477543]|not specified [RCV004700440] |
Chr5:132618232 [GRCh38]
Chr5:131953924 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.821C>G (p.Ala274Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130317] |
Chr5:132587626 [GRCh38]
Chr5:131923318 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1126A>G (p.Thr376Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130341] |
Chr5:132588761 [GRCh38]
Chr5:131924453 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2563G>T (p.Asp855Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130353]|Nijmegen breakage syndrome-like disorder [RCV004567112]|not provided [RCV000585129] |
Chr5:132604844 [GRCh38]
Chr5:131940536 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3507C>T (p.Ala1169=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130356]|not provided [RCV003477544]|not specified [RCV001280641] |
Chr5:132638112 [GRCh38]
Chr5:131973804 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.661T>C (p.Cys221Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130377] |
Chr5:132579971 [GRCh38]
Chr5:131915663 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3122A>G (p.His1041Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130489]|RAD50-related disorder [RCV003952683]|not provided [RCV003477545] |
Chr5:132616088 [GRCh38]
Chr5:131951780 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1969+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130574]|Nijmegen breakage syndrome-like disorder [RCV001781471] |
Chr5:132595045 [GRCh38]
Chr5:131930737 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130597]|Nijmegen breakage syndrome-like disorder [RCV000763128] |
Chr5:132587942 [GRCh38]
Chr5:131923634 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1154G>A (p.Arg385His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130621]|Nijmegen breakage syndrome-like disorder [RCV003460933]|RAD50-related disorder [RCV004751278]|not provided [RCV003477546] |
Chr5:132588789 [GRCh38]
Chr5:131924481 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130882]|Nijmegen breakage syndrome-like disorder [RCV002478397]|Nijmegen breakage syndrome-like disorder [RCV003483501]|not provided [RCV003477547] |
Chr5:132642204 [GRCh38]
Chr5:131977896 [GRCh37]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.3844T>A (p.Tyr1282Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130903] |
Chr5:132642269 [GRCh38]
Chr5:131977961 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030731]|Hereditary cancer-predisposing syndrome [RCV000130904]|Nijmegen breakage syndrome-like disorder [RCV003462004]|not specified [RCV001260375] |
Chr5:132575916 [GRCh38]
Chr5:131911608 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2299G>A (p.Asp767Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131143]|Nijmegen breakage syndrome-like disorder [RCV005031640]|not provided [RCV004998274] |
Chr5:132603391 [GRCh38]
Chr5:131939083 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3146A>G (p.Gln1049Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131178] |
Chr5:132616112 [GRCh38]
Chr5:131951804 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.833G>A (p.Arg278Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131195]|Nijmegen breakage syndrome-like disorder [RCV003462009] |
Chr5:132587638 [GRCh38]
Chr5:131923330 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2837A>T (p.Asp946Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131205]|RAD50-related disorder [RCV004751281] |
Chr5:132609124 [GRCh38]
Chr5:131944816 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3626C>T (p.Ala1209Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131225] |
Chr5:132640679 [GRCh38]
Chr5:131976371 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1294A>T (p.Ile432Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131229] |
Chr5:132589679 [GRCh38]
Chr5:131925371 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131268]|Nijmegen breakage syndrome-like disorder [RCV002258811]|not provided [RCV003477548] |
Chr5:132642305 [GRCh38]
Chr5:131977997 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131286]|Nijmegen breakage syndrome-like disorder [RCV003467171]|not specified [RCV003479017] |
Chr5:132642249 [GRCh38]
Chr5:131977941 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1759A>C (p.Ile587Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131298]|Nijmegen breakage syndrome-like disorder [RCV005031642]|not provided [RCV003477550] |
Chr5:132592000 [GRCh38]
Chr5:131927692 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.366G>C (p.Lys122Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131389]|Nijmegen breakage syndrome-like disorder [RCV003462012]|not provided [RCV004998275] |
Chr5:132579317 [GRCh38]
Chr5:131915009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1378G>A (p.Val460Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131505]|Nijmegen breakage syndrome-like disorder [RCV001535751]|not provided [RCV004998276] |
Chr5:132589763 [GRCh38]
Chr5:131925455 [GRCh37]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.1972A>G (p.Met658Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131520] |
Chr5:132595575 [GRCh38]
Chr5:131931267 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2091C>T (p.Val697=) |
single nucleotide variant |
Familial cancer of breast [RCV003315908]|Hereditary cancer-predisposing syndrome [RCV000131559]|Nijmegen breakage syndrome-like disorder [RCV000410362]|not provided [RCV004704988]|not specified [RCV000212912] |
Chr5:132595694 [GRCh38]
Chr5:131931386 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.2670G>A (p.Gln890=) |
single nucleotide variant |
Familial cancer of breast [RCV003315909]|Hereditary cancer-predisposing syndrome [RCV000131562]|Nijmegen breakage syndrome-like disorder [RCV000409233]|RAD50-related disorder [RCV003917424]|not provided [RCV004704989]|not specified [RCV000212913] |
Chr5:132604951 [GRCh38]
Chr5:131940643 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.3(RAD50):c.2980_2983delAAAG (p.Glu995Argfs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000131612]|Neoplastic Syndromes, Hereditary [RCV000131612] |
Chr5:132609340..132609343 [GRCh38]
Chr5:131945032..131945035 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2348A>G (p.Glu783Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131636] |
Chr5:132603440 [GRCh38]
Chr5:131939132 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2464G>C (p.Asp822His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131639] |
Chr5:132603986 [GRCh38]
Chr5:131939678 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131653]|not provided [RCV003477553]|not specified [RCV000780661] |
Chr5:132595776 [GRCh38]
Chr5:131931468 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3319A>G (p.Met1107Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131654] |
Chr5:132618224 [GRCh38]
Chr5:131953916 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.574C>T (p.Leu192Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131667] |
Chr5:132579884 [GRCh38]
Chr5:131915576 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1353T>A (p.Ser451Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131710]|not specified [RCV001199878] |
Chr5:132589738 [GRCh38]
Chr5:131925430 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1722dup (p.Gln575fs) |
duplication |
Hereditary breast ovarian cancer syndrome [RCV003479019]|Hereditary cancer-predisposing syndrome [RCV000131751]|Nijmegen breakage syndrome-like disorder [RCV001781475]|not provided [RCV003477555] |
Chr5:132591957..132591958 [GRCh38]
Chr5:131927649..131927650 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1495A>G (p.Thr499Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131784] |
Chr5:132591266 [GRCh38]
Chr5:131926958 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2294A>G (p.Lys765Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131798]|Nijmegen breakage syndrome-like disorder [RCV005031643] |
Chr5:132603386 [GRCh38]
Chr5:131939078 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030511]|Hereditary cancer-predisposing syndrome [RCV000131805]|Nijmegen breakage syndrome-like disorder [RCV004567144]|not provided [RCV003477556]|not specified [RCV002271419] |
Chr5:132638101 [GRCh38]
Chr5:131973793 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3443G>A (p.Arg1148His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132030]|Ovarian cancer [RCV003153429] |
Chr5:132637168 [GRCh38]
Chr5:131972860 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| NM_005732.3(RAD50):c.2923-11_2923-10insT |
duplication |
Hereditary cancer-predisposing syndrome [RCV000128884]|Neoplastic Syndromes, Hereditary [RCV000128884] |
Chr5:132609273 [GRCh38]
Chr5:131944965 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2025C>T (p.Asp675=) |
single nucleotide variant |
Familial cancer of breast [RCV003315862]|Hereditary cancer-predisposing syndrome [RCV000128894]|Nijmegen breakage syndrome-like disorder [RCV000410486]|not provided [RCV000590384]|not specified [RCV001800421] |
Chr5:132595628 [GRCh38]
Chr5:131931320 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2159A>G (p.Lys720Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132100]|Nijmegen breakage syndrome-like disorder [RCV004567150] |
Chr5:132595762 [GRCh38]
Chr5:131931454 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.511G>T (p.Ala171Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132113]|Nijmegen breakage syndrome-like disorder [RCV002258812] |
Chr5:132579462 [GRCh38]
Chr5:131915154 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132186]|Nijmegen breakage syndrome-like disorder [RCV000764586]|Ovarian cancer [RCV003153430]|not provided [RCV003477558]|not specified [RCV003398772] |
Chr5:132604811 [GRCh38]
Chr5:131940503 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2923-5dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000128943]|not provided [RCV000588864]|not specified [RCV002478382] |
Chr5:132609272..132609273 [GRCh38]
Chr5:131944964..131944965 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.3440T>C (p.Ile1147Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129063] |
Chr5:132637165 [GRCh38]
Chr5:131972857 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.3(RAD50):c.1268_1269delCT (p.Leu424Glufs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000129070]|Neoplastic Syndromes, Hereditary [RCV000129070] |
Chr5:132589653..132589654 [GRCh38]
Chr5:131925345..131925346 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.194C>T (p.Thr65Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129123] |
Chr5:132559348 [GRCh38]
Chr5:131895040 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132370]|Nijmegen breakage syndrome-like disorder [RCV002258813]|Ovarian cancer [RCV003153431]|not specified [RCV001582609] |
Chr5:132642327 [GRCh38]
Chr5:131978019 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.756+5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132406] |
Chr5:132580071 [GRCh38]
Chr5:131915763 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2174G>A (p.Arg725Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132415]|Nijmegen breakage syndrome-like disorder [RCV003462046]|not provided [RCV004998285] |
Chr5:132595777 [GRCh38]
Chr5:131931469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1672A>G (p.Arg558Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132433] |
Chr5:132591913 [GRCh38]
Chr5:131927605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.399_400del (p.Ala134fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000129139] |
Chr5:132579347..132579348 [GRCh38]
Chr5:131915039..131915040 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.610A>G (p.Lys204Glu) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003483492]|Hereditary cancer-predisposing syndrome [RCV000129161]|Nijmegen breakage syndrome-like disorder [RCV001261853]|not specified [RCV003226207] |
Chr5:132579920 [GRCh38]
Chr5:131915612 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance|not provided |
| NM_005732.4(RAD50):c.3037-3T>C |
single nucleotide variant |
Familial cancer of breast [RCV003315871]|Hereditary cancer-predisposing syndrome [RCV000129167]|Nijmegen breakage syndrome-like disorder [RCV000412003]|not provided [RCV001705927]|not specified [RCV000780657] |
Chr5:132616000 [GRCh38]
Chr5:131951692 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3857T>C (p.Phe1286Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129182]|Nijmegen breakage syndrome-like disorder [RCV004567079] |
Chr5:132642282 [GRCh38]
Chr5:131977974 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030512]|Hereditary cancer-predisposing syndrome [RCV000129202]|Nijmegen breakage syndrome-like disorder [RCV000662532]|Ovarian cancer [RCV003153413] |
Chr5:132642215 [GRCh38]
Chr5:131977907 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129203]|Nijmegen breakage syndrome-like disorder [RCV000765811]|not provided [RCV004998254] |
Chr5:132642261 [GRCh38]
Chr5:131977953 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129214]|Nijmegen breakage syndrome-like disorder [RCV000515180]|not provided [RCV003477538]|not specified [RCV000780664] |
Chr5:132589721 [GRCh38]
Chr5:131925413 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129265]|Nijmegen breakage syndrome-like disorder [RCV002258809] |
Chr5:132638198 [GRCh38]
Chr5:131973890 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129269]|Nijmegen breakage syndrome-like disorder [RCV002257454]|RAD50-related disorder [RCV003945143]|not provided [RCV003477539]|not specified [RCV000780662] |
Chr5:132557458 [GRCh38]
Chr5:131893150 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129273]|Nijmegen breakage syndrome-like disorder [RCV002257455]|not provided [RCV004998257] |
Chr5:132640769 [GRCh38]
Chr5:131976461 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3882T>G (p.Asp1294Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129308]|not provided [RCV004998258] |
Chr5:132642307 [GRCh38]
Chr5:131977999 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3476-10_3480del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000132490] |
Chr5:132638069..132638083 [GRCh38]
Chr5:131973761..131973775 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1832T>C (p.Ile611Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132528] |
Chr5:132594907 [GRCh38]
Chr5:131930599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000132534]|Nijmegen breakage syndrome-like disorder [RCV000662958] |
Chr5:132604020..132604021 [GRCh38]
Chr5:131939712..131939713 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132541]|Nijmegen breakage syndrome-like disorder [RCV002257457]|not specified [RCV004700453] |
Chr5:132603406 [GRCh38]
Chr5:131939098 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2165dup (p.Glu723fs) |
duplication |
Breast and/or ovarian cancer [RCV001271000]|Hereditary cancer-predisposing syndrome [RCV000129381]|Nijmegen breakage syndrome-like disorder [RCV000500926]|not provided [RCV000708625] |
Chr5:132595759..132595760 [GRCh38]
Chr5:131931451..131931452 [GRCh37]
Chr5:5q31.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129388]|Nijmegen breakage syndrome-like disorder [RCV000515280]|not provided [RCV004998259] |
Chr5:132589787 [GRCh38]
Chr5:131925479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214G>A (p.Val72Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129470]|Nijmegen breakage syndrome-like disorder [RCV000764571] |
Chr5:132575777 [GRCh38]
Chr5:131911469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1677C>G (p.His559Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129535]|Nijmegen breakage syndrome-like disorder [RCV000764580]|not specified [RCV000503126] |
Chr5:132591918 [GRCh38]
Chr5:131927610 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3257T>C (p.Ile1086Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129581] |
Chr5:132618162 [GRCh38]
Chr5:131953854 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3655G>A (p.Glu1219Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129601] |
Chr5:132640708 [GRCh38]
Chr5:131976400 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129605]|Nijmegen breakage syndrome-like disorder [RCV003460898] |
Chr5:132579364 [GRCh38]
Chr5:131915056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.643C>T (p.Gln215Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129612] |
Chr5:132579953 [GRCh38]
Chr5:131915645 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1556G>T (p.Arg519Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129646]|Nijmegen breakage syndrome-like disorder [RCV002258810] |
Chr5:132591327 [GRCh38]
Chr5:131927019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.182C>G (p.Thr61Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129693] |
Chr5:132559336 [GRCh38]
Chr5:131895028 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.94dup (p.Thr32fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000129727]|Nijmegen breakage syndrome-like disorder [RCV001781467]|RAD50-related disorder [RCV003398760]|not provided [RCV004589626] |
Chr5:132557417..132557418 [GRCh38]
Chr5:131893109..131893110 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1604G>A (p.Arg535His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129790]|Nijmegen breakage syndrome-like disorder [RCV000764579] |
Chr5:132591375 [GRCh38]
Chr5:131927067 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2992A>C (p.Asn998His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129850] |
Chr5:132609352 [GRCh38]
Chr5:131945044 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.354del (p.Thr119fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000129908] |
Chr5:132575916 [GRCh38]
Chr5:131911608 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 |
copy number loss |
See cases [RCV000135442] |
Chr5:131626503..135815054 [GRCh38]
Chr5:130962196..135150743 [GRCh37]
Chr5:130990095..135178642 [NCBI36]
Chr5:5q31.1 |
pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| NM_005732.4(RAD50):c.756+7del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000160906]|Nijmegen breakage syndrome-like disorder [RCV000411826]|not provided [RCV001796724]|not specified [RCV000780659] |
Chr5:132580072 [GRCh38]
Chr5:131915764 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.885+11G>A |
single nucleotide variant |
Familial cancer of breast [RCV003315966]|Hereditary cancer-predisposing syndrome [RCV002053937]|Nijmegen breakage syndrome-like disorder [RCV000411955]|not specified [RCV000160907] |
Chr5:132587701 [GRCh38]
Chr5:131923393 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3476-18TTC[2] |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000160909]|not specified [RCV000781783] |
Chr5:132638063..132638065 [GRCh38]
Chr5:131973755..131973757 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.3861C>T (p.Tyr1287=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000160910]|not specified [RCV000212927] |
Chr5:132642286 [GRCh38]
Chr5:131977978 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_005732.4(RAD50):c.-38= |
single nucleotide variant |
not specified [RCV000160912] |
Chr5:132557287 [GRCh38]
Chr5:131892979 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.3:c.2923-5insT |
insertion |
Hereditary cancer-predisposing syndrome [RCV000160908] |
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2517dup (p.Asp840fs) |
duplication |
Hereditary breast ovarian cancer syndrome [RCV003155095]|Hereditary cancer-predisposing syndrome [RCV000164416]|Nijmegen breakage syndrome-like disorder [RCV003462134]|not provided [RCV004998317] |
Chr5:132604038..132604039 [GRCh38]
Chr5:131939730..131939731 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.741A>G (p.Glu247=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164440] |
Chr5:132580051 [GRCh38]
Chr5:131915743 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.695C>A (p.Ala232Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164510]|Nijmegen breakage syndrome-like disorder [RCV003462136]|not provided [RCV003237748]|not specified [RCV002298491] |
Chr5:132580005 [GRCh38]
Chr5:131915697 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1636-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164513] |
Chr5:132591873 [GRCh38]
Chr5:131927565 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3195C>T (p.Asp1065=) |
single nucleotide variant |
Familial cancer of breast [RCV003316024]|Hereditary cancer-predisposing syndrome [RCV000164541] |
Chr5:132618100 [GRCh38]
Chr5:131953792 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3671A>G (p.Asn1224Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164600]|Nijmegen breakage syndrome-like disorder [RCV005031682]|not provided [RCV004998324] |
Chr5:132640724 [GRCh38]
Chr5:131976416 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.756+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164601]|Nijmegen breakage syndrome-like disorder [RCV003467299]|not provided [RCV001726014] |
Chr5:132580068 [GRCh38]
Chr5:131915760 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2790C>A (p.Ile930=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164606]|RAD50-related disorder [RCV003895131] |
Chr5:132608686 [GRCh38]
Chr5:131944378 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164729]|Nijmegen breakage syndrome-like disorder [RCV000764575]|not provided [RCV003237750]|not specified [RCV001194194] |
Chr5:132587590 [GRCh38]
Chr5:131923282 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2603A>G (p.Asn868Ser) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030509]|Hereditary cancer-predisposing syndrome [RCV000164730]|Nijmegen breakage syndrome-like disorder [RCV004567251] |
Chr5:132604884 [GRCh38]
Chr5:131940576 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.366G>A (p.Lys122=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164786]|RAD50-related disorder [RCV004751307] |
Chr5:132579317 [GRCh38]
Chr5:131915009 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.281T>C (p.Ile94Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164812]|Nijmegen breakage syndrome-like disorder [RCV003462149]|not provided [RCV003477611]|not specified [RCV001255536] |
Chr5:132575844 [GRCh38]
Chr5:131911536 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.134T>C (p.Ile45Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164856] |
Chr5:132559288 [GRCh38]
Chr5:131894980 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1932G>A (p.Arg644=) |
single nucleotide variant |
Familial cancer of breast [RCV003316031]|Hereditary cancer-predisposing syndrome [RCV000164857]|not provided [RCV004706607] |
Chr5:132595007 [GRCh38]
Chr5:131930699 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166807]|Nijmegen breakage syndrome-like disorder [RCV003462225] |
Chr5:132579363 [GRCh38]
Chr5:131915055 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.922T>C (p.Tyr308His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166879] |
Chr5:132587960 [GRCh38]
Chr5:131923652 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2516T>A (p.Leu839Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164879] |
Chr5:132604038 [GRCh38]
Chr5:131939730 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2203A>C (p.Met735Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164882]|Nijmegen breakage syndrome-like disorder [RCV002258822] |
Chr5:132595806 [GRCh38]
Chr5:131931498 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3209del (p.Asn1070fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000164886]|Nijmegen breakage syndrome-like disorder [RCV003468724] |
Chr5:132618112 [GRCh38]
Chr5:131953804 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3087_3089del (p.Glu1030del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000164901] |
Chr5:132616051..132616053 [GRCh38]
Chr5:131951743..131951745 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164G>A (p.Ser1055Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164950] |
Chr5:132616130 [GRCh38]
Chr5:131951822 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.581A>T (p.Gln194Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164953]|Nijmegen breakage syndrome-like disorder [RCV004567257] |
Chr5:132579891 [GRCh38]
Chr5:131915583 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2805A>G (p.Thr935=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164959] |
Chr5:132608701 [GRCh38]
Chr5:131944393 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.985C>T (p.Leu329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164960] |
Chr5:132588023 [GRCh38]
Chr5:131923715 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3779del (p.Arg1260fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000164979] |
Chr5:132642204 [GRCh38]
Chr5:131977896 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164991]|Lung sarcomatoid carcinoma [RCV003322600]|Nijmegen breakage syndrome-like disorder [RCV000764583]|not provided [RCV004998328] |
Chr5:132595650 [GRCh38]
Chr5:131931342 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2617G>A (p.Glu873Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166964] |
Chr5:132604898 [GRCh38]
Chr5:131940590 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1624A>G (p.Thr542Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166984] |
Chr5:132591395 [GRCh38]
Chr5:131927087 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2839A>G (p.Ile947Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166986] |
Chr5:132609126 [GRCh38]
Chr5:131944818 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3021T>A (p.Asp1007Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167040] |
Chr5:132609381 [GRCh38]
Chr5:131945073 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1982G>C (p.Gly661Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167051] |
Chr5:132595585 [GRCh38]
Chr5:131931277 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2260C>A (p.Leu754Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165062] |
Chr5:132603352 [GRCh38]
Chr5:131939044 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1623G>A (p.Leu541=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165110]|not provided [RCV004998331] |
Chr5:132591394 [GRCh38]
Chr5:131927086 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1715A>G (p.Asn572Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165142]|Nijmegen breakage syndrome-like disorder [RCV004567262] |
Chr5:132591956 [GRCh38]
Chr5:131927648 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1206_1209del (p.Glu402fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000167058] |
Chr5:132588835..132588838 [GRCh38]
Chr5:131924527..131924530 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3204A>C (p.Lys1068Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167123] |
Chr5:132618109 [GRCh38]
Chr5:131953801 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3514A>G (p.Asn1172Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167126] |
Chr5:132638119 [GRCh38]
Chr5:131973811 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1803A>G (p.Leu601=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167167]|not specified [RCV004689643] |
Chr5:132594878 [GRCh38]
Chr5:131930570 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1924T>G (p.Leu642Val) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030505]|Hereditary cancer-predisposing syndrome [RCV000167170]|not provided [RCV003477635]|not specified [RCV004767112] |
Chr5:132594999 [GRCh38]
Chr5:131930691 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000167173]|Nijmegen breakage syndrome-like disorder [RCV001781518] |
Chr5:132589653..132589654 [GRCh38]
Chr5:131925345..131925346 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3601T>C (p.Cys1201Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165207] |
Chr5:132638206 [GRCh38]
Chr5:131973898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3839C>G (p.Ser1280Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165271]|Nijmegen breakage syndrome-like disorder [RCV002257467] |
Chr5:132642264 [GRCh38]
Chr5:131977956 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) |
single nucleotide variant |
Familial cancer of breast [RCV003315975]|Hereditary cancer-predisposing syndrome [RCV000162382]|Nijmegen breakage syndrome-like disorder [RCV000409557]|not provided [RCV000587341]|not specified [RCV002478494] |
Chr5:132642271 [GRCh38]
Chr5:131977963 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2604T>G (p.Asn868Lys) |
single nucleotide variant |
Familial cancer of breast [RCV004821985]|Hereditary cancer-predisposing syndrome [RCV000165340] |
Chr5:132604885 [GRCh38]
Chr5:131940577 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3929A>G (p.Asn1310Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165344]|not provided [RCV003237752] |
Chr5:132642354 [GRCh38]
Chr5:131978046 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165353]|Nijmegen breakage syndrome-like disorder [RCV002257468] |
Chr5:132588767 [GRCh38]
Chr5:131924459 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2823G>A (p.Gln941=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165424] |
Chr5:132608719 [GRCh38]
Chr5:131944411 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.556A>T (p.Ile186Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165455] |
Chr5:132579866 [GRCh38]
Chr5:131915558 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) |
single nucleotide variant |
Familial cancer of breast [RCV003315980]|Hereditary cancer-predisposing syndrome [RCV000162640]|Nijmegen breakage syndrome-like disorder [RCV000409828]|not provided [RCV004706606]|not specified [RCV000194174] |
Chr5:132616119 [GRCh38]
Chr5:131951811 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2046C>T (p.Pro682=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162651]|Nijmegen breakage syndrome-like disorder [RCV002257464]|RAD50-related disorder [RCV003917557] |
Chr5:132595649 [GRCh38]
Chr5:131931341 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1059A>G (p.Leu353=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162680] |
Chr5:132588694 [GRCh38]
Chr5:131924386 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2313A>G (p.Gln771=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162716] |
Chr5:132603405 [GRCh38]
Chr5:131939097 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2298C>T (p.Asn766=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162742]|Nijmegen breakage syndrome-like disorder [RCV002257465]|RAD50-related disorder [RCV003952811] |
Chr5:132603390 [GRCh38]
Chr5:131939082 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3087G>A (p.Glu1029=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162745] |
Chr5:132616053 [GRCh38]
Chr5:131951745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2352T>C (p.Ser784=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162774]|RAD50-related disorder [RCV003945259] |
Chr5:132603444 [GRCh38]
Chr5:131939136 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.1540T>C (p.Leu514=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162778]|RAD50-related disorder [RCV003952813]|not provided [RCV003477581] |
Chr5:132591311 [GRCh38]
Chr5:131927003 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165464]|Nijmegen breakage syndrome-like disorder [RCV003462173] |
Chr5:132618299 [GRCh38]
Chr5:131953991 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.24C>T (p.Ser8=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165501]|RAD50-related disorder [RCV004751309] |
Chr5:132557348 [GRCh38]
Chr5:131893040 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165578]|Nijmegen breakage syndrome-like disorder [RCV003468747] |
Chr5:132591961 [GRCh38]
Chr5:131927653 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1055G>A (p.Arg352His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165579] |
Chr5:132588690 [GRCh38]
Chr5:131924382 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1284G>A (p.Gln428=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162780]|Nijmegen breakage syndrome-like disorder [RCV002257466] |
Chr5:132589669 [GRCh38]
Chr5:131925361 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1992A>G (p.Ala664=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162784]|Nijmegen breakage syndrome-like disorder [RCV000987599] |
Chr5:132595595 [GRCh38]
Chr5:131931287 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1875C>T (p.Tyr625=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163046]|not specified [RCV001804891] |
Chr5:132594950 [GRCh38]
Chr5:131930642 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163079]|Nijmegen breakage syndrome-like disorder [RCV003467276]|not provided [RCV003477583]|not specified [RCV000780663] |
Chr5:132642194 [GRCh38]
Chr5:131977886 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3408C>T (p.His1136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163127] |
Chr5:132637133 [GRCh38]
Chr5:131972825 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000167224]|Nijmegen breakage syndrome-like disorder [RCV002257472] |
Chr5:132588834..132588835 [GRCh38]
Chr5:131924526..131924527 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3345A>C (p.Glu1115Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167231] |
Chr5:132618250 [GRCh38]
Chr5:131953942 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.564C>T (p.Ala188=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167235] |
Chr5:132579874 [GRCh38]
Chr5:131915566 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.760C>T (p.Arg254Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167242]|Nijmegen breakage syndrome-like disorder [RCV004567338]|Ovarian cancer [RCV003153457] |
Chr5:132587565 [GRCh38]
Chr5:131923257 [GRCh37]
Chr5:5q31.1 |
benign|uncertain significance |
| NM_005732.4(RAD50):c.1752A>G (p.Ser584=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167245] |
Chr5:132591993 [GRCh38]
Chr5:131927685 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1677C>T (p.His559=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165613]|Nijmegen breakage syndrome-like disorder [RCV002257469]|RAD50-related disorder [RCV003947426]|not provided [RCV003477618]|not specified [RCV001264505] |
Chr5:132591918 [GRCh38]
Chr5:131927610 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3641G>T (p.Arg1214Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165617]|Nijmegen breakage syndrome-like disorder [RCV004567278]|not provided [RCV004760410] |
Chr5:132640694 [GRCh38]
Chr5:131976386 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1311T>C (p.Thr437=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165651]|not specified [RCV003230427] |
Chr5:132589696 [GRCh38]
Chr5:131925388 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2596A>G (p.Thr866Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165655] |
Chr5:132604877 [GRCh38]
Chr5:131940569 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1965G>A (p.Gln655=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165706] |
Chr5:132595040 [GRCh38]
Chr5:131930732 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3177G>C (p.Lys1059Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165737] |
Chr5:132618082 [GRCh38]
Chr5:131953774 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-5A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165750] |
Chr5:132588682 [GRCh38]
Chr5:131924374 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2121T>C (p.Leu707=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163220] |
Chr5:132595724 [GRCh38]
Chr5:131931416 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.39G>A (p.Arg13=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163264]|not provided [RCV003430720] |
Chr5:132557363 [GRCh38]
Chr5:131893055 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.549A>T (p.Thr183=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163309] |
Chr5:132579500 [GRCh38]
Chr5:131915192 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3863G>T (p.Arg1288Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167258] |
Chr5:132642288 [GRCh38]
Chr5:131977980 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.126G>A (p.Lys42=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167263] |
Chr5:132557450 [GRCh38]
Chr5:131893142 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167267] |
Chr5:132616131 [GRCh38]
Chr5:131951823 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1199T>A (p.Val400Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167270] |
Chr5:132588834 [GRCh38]
Chr5:131924526 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1554G>C (p.Leu518=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167286]|RAD50-related disorder [RCV003895165]|not provided [RCV003477638] |
Chr5:132591325 [GRCh38]
Chr5:131927017 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167343]|Nijmegen breakage syndrome-like disorder [RCV003468809] |
Chr5:132616131 [GRCh38]
Chr5:131951823 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030506]|Hereditary cancer-predisposing syndrome [RCV000167368]|Nijmegen breakage syndrome-like disorder [RCV000764585]|not provided [RCV004998359]|not specified [RCV001194195] |
Chr5:132603301 [GRCh38]
Chr5:131938993 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.496T>G (p.Leu166Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167381] |
Chr5:132579447 [GRCh38]
Chr5:131915139 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2262G>A (p.Leu754=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167385] |
Chr5:132603354 [GRCh38]
Chr5:131939046 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165800]|not provided [RCV002478512] |
Chr5:132637191 [GRCh38]
Chr5:131972883 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3669C>G (p.Leu1223=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165825] |
Chr5:132640722 [GRCh38]
Chr5:131976414 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2092A>G (p.Ile698Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165841]|not specified [RCV003155098] |
Chr5:132595695 [GRCh38]
Chr5:131931387 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.282A>G (p.Ile94Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165877]|Myoepithelial tumor [RCV002463656]|Nijmegen breakage syndrome-like disorder [RCV000987597] |
Chr5:132575845 [GRCh38]
Chr5:131911537 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1131G>A (p.Gln377=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165879] |
Chr5:132588766 [GRCh38]
Chr5:131924458 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1068A>G (p.Gln356=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165884] |
Chr5:132588703 [GRCh38]
Chr5:131924395 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1255G>A (p.Ala419Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163460]|Nijmegen breakage syndrome-like disorder [RCV005042324]|not provided [RCV003477592] |
Chr5:132589640 [GRCh38]
Chr5:131925332 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2196T>A (p.Leu732=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163469] |
Chr5:132595799 [GRCh38]
Chr5:131931491 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3027T>C (p.Asp1009=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163490]|not provided [RCV003477593] |
Chr5:132609387 [GRCh38]
Chr5:131945079 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1239A>G (p.Gln413=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163492]|not specified [RCV002222415] |
Chr5:132588874 [GRCh38]
Chr5:131924566 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) |
single nucleotide variant |
Familial cancer of breast [RCV004527364]|Hereditary cancer-predisposing syndrome [RCV000163514]|Nijmegen breakage syndrome-like disorder [RCV000764574]|not provided [RCV001572894] |
Chr5:132579896 [GRCh38]
Chr5:131915588 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1769C>G (p.Thr590Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167399]|Nijmegen breakage syndrome-like disorder [RCV004567347] |
Chr5:132592010 [GRCh38]
Chr5:131927702 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1680T>G (p.Ser560Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167407] |
Chr5:132591921 [GRCh38]
Chr5:131927613 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3334A>T (p.Arg1112Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167419] |
Chr5:132618239 [GRCh38]
Chr5:131953931 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1190A>T (p.His397Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167484]|Nijmegen breakage syndrome-like disorder [RCV003462245] |
Chr5:132588825 [GRCh38]
Chr5:131924517 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1648G>C (p.Glu550Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167507] |
Chr5:132591889 [GRCh38]
Chr5:131927581 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1860G>A (p.Glu620=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165910] |
Chr5:132594935 [GRCh38]
Chr5:131930627 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.205G>A (p.Asp69Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165926]|not provided [RCV003477622] |
Chr5:132559359 [GRCh38]
Chr5:131895051 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1713C>T (p.Pro571=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165978]|RAD50-related disorder [RCV004751310] |
Chr5:132591954 [GRCh38]
Chr5:131927646 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.344A>G (p.Glu115Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166030]|Nijmegen breakage syndrome-like disorder [RCV002492666] |
Chr5:132575907 [GRCh38]
Chr5:131911599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2688T>C (p.Thr896=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166033]|not specified [RCV001420781] |
Chr5:132604969 [GRCh38]
Chr5:131940661 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3061A>G (p.Asn1021Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166037]|Nijmegen breakage syndrome-like disorder [RCV002257470] |
Chr5:132616027 [GRCh38]
Chr5:131951719 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.921A>G (p.Leu307=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163541]|RAD50-related disorder [RCV003907507]|not specified [RCV003317112] |
Chr5:132587959 [GRCh38]
Chr5:131923651 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.1686A>G (p.Glu562=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163551]|not provided [RCV003886382] |
Chr5:132591927 [GRCh38]
Chr5:131927619 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.204C>T (p.His68=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163569]|Nijmegen breakage syndrome-like disorder [RCV000663116]|not provided [RCV003389733]|not specified [RCV002469034] |
Chr5:132559358 [GRCh38]
Chr5:131895050 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.927C>T (p.His309=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163639]|not specified [RCV001290525] |
Chr5:132587965 [GRCh38]
Chr5:131923657 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001194191]|Hereditary cancer-predisposing syndrome [RCV000163726]|Nijmegen breakage syndrome-like disorder [RCV002498810]|Nijmegen breakage syndrome-like disorder [RCV003483532] |
Chr5:132588872 [GRCh38]
Chr5:131924564 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|not provided |
| NM_005732.4(RAD50):c.426T>C (p.Ser142=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163789]|Nijmegen breakage syndrome-like disorder [RCV002258819] |
Chr5:132579377 [GRCh38]
Chr5:131915069 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.667A>G (p.Ile223Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166200] |
Chr5:132579977 [GRCh38]
Chr5:131915669 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.771A>G (p.Glu257=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166242] |
Chr5:132587576 [GRCh38]
Chr5:131923268 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3767G>A (p.Arg1256His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166296]|Nijmegen breakage syndrome-like disorder [RCV003468778]|not specified [RCV001194190] |
Chr5:132642192 [GRCh38]
Chr5:131977884 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1544_1547del (p.Asp515fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000166330] |
Chr5:132591313..132591316 [GRCh38]
Chr5:131927005..131927008 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.871G>A (p.Glu291Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166344] |
Chr5:132587676 [GRCh38]
Chr5:131923368 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.541dup (p.Ser181fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000163823]|Nijmegen breakage syndrome-like disorder [RCV003467281]|not provided [RCV002292478] |
Chr5:132579486..132579487 [GRCh38]
Chr5:131915178..131915179 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.459T>C (p.Asn153=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163839] |
Chr5:132579410 [GRCh38]
Chr5:131915102 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2217A>T (p.Ile739=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163901] |
Chr5:132603309 [GRCh38]
Chr5:131939001 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1602A>G (p.Thr534=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163905]|Nijmegen breakage syndrome-like disorder [RCV002258820]|not provided [RCV003477603] |
Chr5:132591373 [GRCh38]
Chr5:131927065 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2891A>T (p.Tyr964Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166417]|Nijmegen breakage syndrome-like disorder [RCV003483543]|not provided [RCV003477629] |
Chr5:132609178 [GRCh38]
Chr5:131944870 [GRCh37]
Chr5:5q31.1 |
uncertain significance|not provided |
| NM_005732.4(RAD50):c.3786C>G (p.Phe1262Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166429] |
Chr5:132642211 [GRCh38]
Chr5:131977903 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1755A>G (p.Lys585=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163947] |
Chr5:132591996 [GRCh38]
Chr5:131927688 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.612A>G (p.Lys204=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163953] |
Chr5:132579922 [GRCh38]
Chr5:131915614 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1026A>G (p.Glu342=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163962]|RAD50-related disorder [RCV003895119] |
Chr5:132588064 [GRCh38]
Chr5:131923756 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1986C>T (p.Ala662=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163974] |
Chr5:132595589 [GRCh38]
Chr5:131931281 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2844A>G (p.Lys948=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164031] |
Chr5:132609131 [GRCh38]
Chr5:131944823 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.454A>T (p.Asn152Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164060] |
Chr5:132579405 [GRCh38]
Chr5:131915097 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1555C>T (p.Arg519Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164072] |
Chr5:132591326 [GRCh38]
Chr5:131927018 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2500G>C (p.Glu834Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166520] |
Chr5:132604022 [GRCh38]
Chr5:131939714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2648G>A (p.Arg883His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166591]|Nijmegen breakage syndrome-like disorder [RCV005031686] |
Chr5:132604929 [GRCh38]
Chr5:131940621 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2024A>G (p.Asp675Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166599] |
Chr5:132595627 [GRCh38]
Chr5:131931319 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636G>A (p.Ala546Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166606]|not provided [RCV004998350] |
Chr5:132591877 [GRCh38]
Chr5:131927569 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.220C>G (p.Gln74Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164109] |
Chr5:132575783 [GRCh38]
Chr5:131911475 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2454A>T (p.Gly818=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164113] |
Chr5:132603976 [GRCh38]
Chr5:131939668 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.705A>G (p.Thr235=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164125] |
Chr5:132580015 [GRCh38]
Chr5:131915707 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.740A>G (p.Glu247Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164160] |
Chr5:132580050 [GRCh38]
Chr5:131915742 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1988C>T (p.Thr663Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164176] |
Chr5:132595591 [GRCh38]
Chr5:131931283 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164215]|Nijmegen breakage syndrome-like disorder [RCV001781509]|not provided [RCV004998315] |
Chr5:132638203 [GRCh38]
Chr5:131973895 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.411C>T (p.Asp137=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164222]|RAD50-related disorder [RCV004751305] |
Chr5:132579362 [GRCh38]
Chr5:131915054 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3621A>G (p.Val1207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164228] |
Chr5:132640674 [GRCh38]
Chr5:131976366 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3585G>A (p.Leu1195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164238] |
Chr5:132638190 [GRCh38]
Chr5:131973882 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.259C>T (p.Arg87Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164239]|Nijmegen breakage syndrome-like disorder [RCV003467287]|RAD50-related disorder [RCV003416034]|not provided [RCV002478501]|not specified [RCV000781780] |
Chr5:132575822 [GRCh38]
Chr5:131911514 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2163A>G (p.Lys721=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164242] |
Chr5:132595766 [GRCh38]
Chr5:131931458 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3342A>G (p.Thr1114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166642]|Nijmegen breakage syndrome-like disorder [RCV002257471] |
Chr5:132618247 [GRCh38]
Chr5:131953939 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1967G>A (p.Arg656Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166649] |
Chr5:132595042 [GRCh38]
Chr5:131930734 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.965del (p.Leu322fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000166691] |
Chr5:132588002 [GRCh38]
Chr5:131923694 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3080G>T (p.Arg1027Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166701] |
Chr5:132616046 [GRCh38]
Chr5:131951738 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.680T>G (p.Ile227Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166756] |
Chr5:132579990 [GRCh38]
Chr5:131915682 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2336T>C (p.Met779Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166766] |
Chr5:132603428 [GRCh38]
Chr5:131939120 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.398G>T (p.Cys133Phe) |
single nucleotide variant |
Familial cancer of breast [RCV003319324]|Hereditary cancer-predisposing syndrome [RCV000164256] |
Chr5:132579349 [GRCh38]
Chr5:131915041 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000164257]|Nijmegen breakage syndrome-like disorder [RCV001781510]|RAD50-related disorder [RCV003907517]|not provided [RCV003477607] |
Chr5:132595803 [GRCh38]
Chr5:131931495 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1340C>T (p.Ser447Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164282] |
Chr5:132589725 [GRCh38]
Chr5:131925417 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1394A>G (p.Gln465Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164289] |
Chr5:132589779 [GRCh38]
Chr5:131925471 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3835C>T (p.Arg1279Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164290]|Nijmegen breakage syndrome-like disorder [RCV003467288] |
Chr5:132642260 [GRCh38]
Chr5:131977952 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3546T>C (p.Tyr1182=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164302] |
Chr5:132638151 [GRCh38]
Chr5:131973843 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164303]|Nijmegen breakage syndrome-like disorder [RCV002258821]|not provided [RCV004998316]|not specified [RCV003323421] |
Chr5:132609190 [GRCh38]
Chr5:131944882 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1011G>A (p.Arg337=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164306] |
Chr5:132588049 [GRCh38]
Chr5:131923741 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.395A>G (p.Lys132Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164319]|Nijmegen breakage syndrome-like disorder [RCV004567239] |
Chr5:132579346 [GRCh38]
Chr5:131915038 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1094G>T (p.Arg365Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164359] |
Chr5:132588729 [GRCh38]
Chr5:131924421 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.687del (p.Ser229fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000164362]|Nijmegen breakage syndrome-like disorder [RCV000409900] |
Chr5:132579997 [GRCh38]
Chr5:131915689 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1457G>A (p.Arg486His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000195495]|Nijmegen breakage syndrome-like disorder [RCV000764577] |
Chr5:132591228 [GRCh38]
Chr5:131926920 [GRCh37]
Chr5:5q31.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.123A>T (p.Gly41=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000195527] |
Chr5:132557447 [GRCh38]
Chr5:131893139 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3298G>T (p.Ala1100Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000195963] |
Chr5:132618203 [GRCh38]
Chr5:131953895 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3842A>C (p.Glu1281Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196265] |
Chr5:132642267 [GRCh38]
Chr5:131977959 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1565A>G (p.Asp522Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196285] |
Chr5:132591336 [GRCh38]
Chr5:131927028 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3522A>T (p.Ser1174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020517]|not provided [RCV003477662] |
Chr5:132638127 [GRCh38]
Chr5:131973819 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3165-8T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196572]|Nijmegen breakage syndrome-like disorder [RCV000663153]|not specified [RCV001194192] |
Chr5:132618062 [GRCh38]
Chr5:131953754 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.2104C>A (p.Gln702Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196577] |
Chr5:132595707 [GRCh38]
Chr5:131931399 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196757]|Nijmegen breakage syndrome-like disorder [RCV003485560]|not specified [RCV000781778] |
Chr5:132603990 [GRCh38]
Chr5:131939682 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2707del (p.Arg903fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000196809] |
Chr5:132604988 [GRCh38]
Chr5:131940680 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2813A>G (p.Lys938Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196840] |
Chr5:132608709 [GRCh38]
Chr5:131944401 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1970-7A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000196938]|not provided [RCV003477661]|not specified [RCV001260347] |
Chr5:132595566 [GRCh38]
Chr5:131931258 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1527T>C (p.Asn509=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197076] |
Chr5:132591298 [GRCh38]
Chr5:131926990 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197134] |
Chr5:132588681 [GRCh38]
Chr5:131924373 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197191]|Nijmegen breakage syndrome-like disorder [RCV002258826]|not specified [RCV001553689] |
Chr5:132588011 [GRCh38]
Chr5:131923703 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1164C>G (p.Phe388Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197198] |
Chr5:132588799 [GRCh38]
Chr5:131924491 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1793+4A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197487] |
Chr5:132592038 [GRCh38]
Chr5:131927730 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3054A>G (p.Leu1018=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018331] |
Chr5:132616020 [GRCh38]
Chr5:131951712 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2820A>G (p.Ala940=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000198081] |
Chr5:132608716 [GRCh38]
Chr5:131944408 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+7A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000198475]|RAD50-related disorder [RCV004751361] |
Chr5:132640812 [GRCh38]
Chr5:131976504 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2522C>T (p.Thr841Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000198574] |
Chr5:132604044 [GRCh38]
Chr5:131939736 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.135C>T (p.Ile45=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011167] |
Chr5:132559289 [GRCh38]
Chr5:131894981 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.323A>G (p.Lys108Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000198855]|Nijmegen breakage syndrome-like disorder [RCV005031748]|Ovarian cancer [RCV003153473]|not specified [RCV000780665] |
Chr5:132575886 [GRCh38]
Chr5:131911578 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1406G>C (p.Gly469Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199031]|Nijmegen breakage syndrome-like disorder [RCV003462335]|not provided [RCV004692808] |
Chr5:132589791 [GRCh38]
Chr5:131925483 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.1989A>G (p.Thr663=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001406363] |
Chr5:132595592 [GRCh38]
Chr5:131931284 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199364]|Nijmegen breakage syndrome-like disorder [RCV003462312]|not provided [RCV000369650] |
Chr5:132638158 [GRCh38]
Chr5:131973850 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2937A>G (p.Glu979=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199627] |
Chr5:132609297 [GRCh38]
Chr5:131944989 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|likely benign |
| NM_005732.4(RAD50):c.3772C>G (p.Gln1258Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199805] |
Chr5:132642197 [GRCh38]
Chr5:131977889 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3931G>A (p.Val1311Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199927]|not provided [RCV004998411] |
Chr5:132642356 [GRCh38]
Chr5:131978048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.3(RAD50):c.756+6delT |
deletion |
Hereditary cancer-predisposing syndrome [RCV000200212] |
Chr5:132580072 [GRCh38]
Chr5:131915764 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1453-9A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000200221] |
Chr5:132591215 [GRCh38]
Chr5:131926907 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000200401] |
Chr5:132605005 [GRCh38]
Chr5:131940697 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.281T>G (p.Ile94Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000199400] |
Chr5:132575844 [GRCh38]
Chr5:131911536 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2108C>A (p.Ser703Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561394]|RAD50-related disorder [RCV003409834] |
Chr5:132595711 [GRCh38]
Chr5:131931403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2372A>G (p.Asp791Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204347] |
Chr5:132603464 [GRCh38]
Chr5:131939156 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.160A>G (p.Thr54Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204439] |
Chr5:132559314 [GRCh38]
Chr5:131895006 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1679G>T (p.Ser560Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204642] |
Chr5:132591920 [GRCh38]
Chr5:131927612 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3752+12_3752+41del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000204764] |
Chr5:132640782..132640811 [GRCh38]
Chr5:131976474..131976503 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.1815_1816delinsAA (p.Gln606Lys) |
indel |
Hereditary cancer-predisposing syndrome [RCV000204816] |
Chr5:132594890..132594891 [GRCh38]
Chr5:131930582..131930583 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3048G>T (p.Arg1016Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204851] |
Chr5:132616014 [GRCh38]
Chr5:131951706 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.790A>G (p.Lys264Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204892]|Nijmegen breakage syndrome-like disorder [RCV003468959] |
Chr5:132587595 [GRCh38]
Chr5:131923287 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3756A>C (p.Ile1252=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204902] |
Chr5:132642181 [GRCh38]
Chr5:131977873 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3486C>T (p.Tyr1162=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020417] |
Chr5:132638091 [GRCh38]
Chr5:131973783 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2914T>C (p.Tyr972His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205006]|Nijmegen breakage syndrome-like disorder [RCV003462394] |
Chr5:132609201 [GRCh38]
Chr5:131944893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3293G>A (p.Arg1098Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205028] |
Chr5:132618198 [GRCh38]
Chr5:131953890 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1005A>G (p.Glu335=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408892]|not provided [RCV000205172] |
Chr5:132588043 [GRCh38]
Chr5:131923735 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001270999]|Hepatocellular carcinoma [RCV002280874]|Hereditary cancer-predisposing syndrome [RCV000205188]|Nijmegen breakage syndrome-like disorder [RCV000411352]|not provided [RCV003477703] |
Chr5:132594950 [GRCh38]
Chr5:131930642 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2892T>C (p.Tyr964=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016833] |
Chr5:132609179 [GRCh38]
Chr5:131944871 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.756+8G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001404062] |
Chr5:132580074 [GRCh38]
Chr5:131915766 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000205373] |
Chr5:132603351..132603357 [GRCh38]
Chr5:131939043..131939049 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.642G>A (p.Lys214=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205493]|not provided [RCV004546457] |
Chr5:132579952 [GRCh38]
Chr5:131915644 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2595T>C (p.Ser865=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205592] |
Chr5:132604876 [GRCh38]
Chr5:131940568 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.127A>G (p.Thr43Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205716] |
Chr5:132557451 [GRCh38]
Chr5:131893143 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.1051+10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205828] |
Chr5:132588099 [GRCh38]
Chr5:131923791 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.833G>T (p.Arg278Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205899]|Nijmegen breakage syndrome-like disorder [RCV004567473]|not provided [RCV003237769] |
Chr5:132587638 [GRCh38]
Chr5:131923330 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2079G>C (p.Glu693Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205921] |
Chr5:132595682 [GRCh38]
Chr5:131931374 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.578G>A (p.Arg193Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000205974]|Nijmegen breakage syndrome-like disorder [RCV002257505] |
Chr5:132579888 [GRCh38]
Chr5:131915580 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.761G>A (p.Arg254His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206220]|Nijmegen breakage syndrome-like disorder [RCV004567475]|not provided [RCV004998433] |
Chr5:132587566 [GRCh38]
Chr5:131923258 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3752+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206334] |
Chr5:132640808 [GRCh38]
Chr5:131976500 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1592A>G (p.His531Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206335] |
Chr5:132591363 [GRCh38]
Chr5:131927055 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206338]|Nijmegen breakage syndrome-like disorder [RCV000764576]|RAD50-related disorder [RCV004751366] |
Chr5:132588827 [GRCh38]
Chr5:131924519 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3766C>A (p.Arg1256Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206586]|not provided [RCV003477678] |
Chr5:132642191 [GRCh38]
Chr5:131977883 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2713A>G (p.Ile905Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206621] |
Chr5:132604994 [GRCh38]
Chr5:131940686 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000203749] |
Chr5:132579354 [GRCh38]
Chr5:131915046 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1356G>A (p.Lys452=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001429517] |
Chr5:132589741 [GRCh38]
Chr5:131925433 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1831A>G (p.Ile611Val) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030504]|Hereditary cancer-predisposing syndrome [RCV000203829]|not provided [RCV004998425] |
Chr5:132594906 [GRCh38]
Chr5:131930598 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.915T>C (p.Asn305=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000206875]|Nijmegen breakage syndrome-like disorder [RCV002257503]|RAD50-related disorder [RCV003907760] |
Chr5:132587953 [GRCh38]
Chr5:131923645 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3660G>A (p.Thr1220=) |
single nucleotide variant |
Familial cancer of breast [RCV003316136]|Hereditary cancer-predisposing syndrome [RCV000204066]|not specified [RCV001526982] |
Chr5:132640713 [GRCh38]
Chr5:131976405 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.132C>G (p.Thr44=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204103] |
Chr5:132559286 [GRCh38]
Chr5:131894978 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.908A>C (p.Gln303Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204110] |
Chr5:132587946 [GRCh38]
Chr5:131923638 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3178T>A (p.Leu1060Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000204157]|Nijmegen breakage syndrome-like disorder [RCV004567476] |
Chr5:132618083 [GRCh38]
Chr5:131953775 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1019A>G (p.Asn340Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000543263] |
Chr5:132588057 [GRCh38]
Chr5:131923749 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2602A>G (p.Asn868Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561522] |
Chr5:132604883 [GRCh38]
Chr5:131940575 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563257]|Nijmegen breakage syndrome-like disorder [RCV000764581] |
Chr5:132591962 [GRCh38]
Chr5:131927654 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.587G>A (p.Arg196His) |
single nucleotide variant |
Familial cancer of breast [RCV003343897]|Hereditary cancer-predisposing syndrome [RCV000527879] |
Chr5:132579897 [GRCh38]
Chr5:131915589 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2699C>G (p.Ser900Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000543707] |
Chr5:132604980 [GRCh38]
Chr5:131940672 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2226G>A (p.Leu742=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561882] |
Chr5:132603318 [GRCh38]
Chr5:131939010 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1829A>G (p.His610Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561907]|Ovarian cancer [RCV003153737] |
Chr5:132594904 [GRCh38]
Chr5:131930596 [GRCh37]
Chr5:5q31.1 |
benign|uncertain significance |
| NM_005732.4(RAD50):c.3618+4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000544629] |
Chr5:132638227 [GRCh38]
Chr5:131973919 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3358G>C (p.Asp1120His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000547897]|not provided [RCV005000131] |
Chr5:132618263 [GRCh38]
Chr5:131953955 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.288G>C (p.Val96=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564801]|not provided [RCV003431130] |
Chr5:132575851 [GRCh38]
Chr5:131911543 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.133A>G (p.Ile45Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000543852] |
Chr5:132559287 [GRCh38]
Chr5:131894979 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.218C>T (p.Ala73Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000543935]|not provided [RCV005000130] |
Chr5:132575781 [GRCh38]
Chr5:131911473 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2349A>G (p.Glu783=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562653] |
Chr5:132603441 [GRCh38]
Chr5:131939133 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3302A>T (p.Glu1101Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000545478] |
Chr5:132618207 [GRCh38]
Chr5:131953899 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3557T>G (p.Val1186Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000530653] |
Chr5:132638162 [GRCh38]
Chr5:131973854 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3037-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000547326] |
Chr5:132616001 [GRCh38]
Chr5:131951693 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3603C>T (p.Cys1201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000532151] |
Chr5:132638208 [GRCh38]
Chr5:131973900 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1745G>A (p.Ser582Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000532236] |
Chr5:132591986 [GRCh38]
Chr5:131927678 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1596A>G (p.Thr532=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000524958] |
Chr5:132591367 [GRCh38]
Chr5:131927059 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2003A>G (p.Gln668Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000547502] |
Chr5:132595606 [GRCh38]
Chr5:131931298 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2940TAA[1] (p.Asn981del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000546876]|Nijmegen breakage syndrome-like disorder [RCV005034086]|not provided [RCV004592551] |
Chr5:132609300..132609302 [GRCh38]
Chr5:131944992..131944994 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1618A>G (p.Met540Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562123] |
Chr5:132591389 [GRCh38]
Chr5:131927081 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052G>T (p.Gly351Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000544188] |
Chr5:132588687 [GRCh38]
Chr5:131924379 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.199G>A (p.Val67Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219576] |
Chr5:132559353 [GRCh38]
Chr5:131895045 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1978G>T (p.Ala660Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221759] |
Chr5:132595581 [GRCh38]
Chr5:131931273 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1031C>T (p.Ser344Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221760] |
Chr5:132588069 [GRCh38]
Chr5:131923761 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1348C>T (p.Leu450=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000230935]|not provided [RCV004705052] |
Chr5:132589733 [GRCh38]
Chr5:131925425 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1369C>G (p.Leu457Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223515] |
Chr5:132589754 [GRCh38]
Chr5:131925446 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1821T>C (p.Asn607=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223519] |
Chr5:132594896 [GRCh38]
Chr5:131930588 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1000_1002del (p.Lys334del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000223575] |
Chr5:132588038..132588040 [GRCh38]
Chr5:131923730..131923732 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.223G>A (p.Glu75Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215293] |
Chr5:132575786 [GRCh38]
Chr5:131911478 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2108C>T (p.Ser703Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215304] |
Chr5:132595711 [GRCh38]
Chr5:131931403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1219G>A (p.Glu407Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215316] |
Chr5:132588854 [GRCh38]
Chr5:131924546 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1332G>T (p.Glu444Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217211] |
Chr5:132589717 [GRCh38]
Chr5:131925409 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219668]|Nijmegen breakage syndrome-like disorder [RCV000765808]|not specified [RCV001375528] |
Chr5:132618111 [GRCh38]
Chr5:131953803 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.886G>A (p.Val296Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219674]|Nijmegen breakage syndrome-like disorder [RCV004567504] |
Chr5:132587924 [GRCh38]
Chr5:131923616 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3229C>A (p.Arg1077=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219691] |
Chr5:132618134 [GRCh38]
Chr5:131953826 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2501A>G (p.Glu834Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219775] |
Chr5:132604023 [GRCh38]
Chr5:131939715 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1088A>T (p.His363Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219776] |
Chr5:132588723 [GRCh38]
Chr5:131924415 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.487A>G (p.Asn163Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222017] |
Chr5:132579438 [GRCh38]
Chr5:131915130 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222027]|Nijmegen breakage syndrome-like disorder [RCV002257524] |
Chr5:132637179 [GRCh38]
Chr5:131972871 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3389+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223643]|Nijmegen breakage syndrome-like disorder [RCV001782712]|RAD50-related disorder [RCV003401153] |
Chr5:132618295 [GRCh38]
Chr5:131953987 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3510_3578dup (p.Glu1171_Thr1193dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000217219] |
Chr5:132638114..132638115 [GRCh38]
Chr5:131973806..131973807 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.288G>A (p.Val96=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217322] |
Chr5:132575851 [GRCh38]
Chr5:131911543 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.914A>G (p.Asn305Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217323] |
Chr5:132587952 [GRCh38]
Chr5:131923644 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2949A>G (p.Val983=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217349] |
Chr5:132609309 [GRCh38]
Chr5:131945001 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2650C>T (p.Arg884Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219787] |
Chr5:132604931 [GRCh38]
Chr5:131940623 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1269T>C (p.Thr423=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219801] |
Chr5:132589654 [GRCh38]
Chr5:131925346 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1706A>C (p.Tyr569Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222072] |
Chr5:132591947 [GRCh38]
Chr5:131927639 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1545C>T (p.Asp515=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222090] |
Chr5:132591316 [GRCh38]
Chr5:131927008 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.984A>G (p.Glu328=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222112] |
Chr5:132588022 [GRCh38]
Chr5:131923714 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2816T>C (p.Ile939Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222153] |
Chr5:132608712 [GRCh38]
Chr5:131944404 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1216G>A (p.Gly406Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213206]|not provided [RCV004998478] |
Chr5:132588851 [GRCh38]
Chr5:131924543 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3514A>T (p.Asn1172Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213299]|Nijmegen breakage syndrome-like disorder [RCV003462429] |
Chr5:132638119 [GRCh38]
Chr5:131973811 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1208G>A (p.Arg403Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213315] |
Chr5:132588843 [GRCh38]
Chr5:131924535 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3373T>A (p.Tyr1125Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217407] |
Chr5:132618278 [GRCh38]
Chr5:131953970 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2786T>C (p.Leu929Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217455] |
Chr5:132608682 [GRCh38]
Chr5:131944374 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222239] |
Chr5:132642212 [GRCh38]
Chr5:131977904 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2658A>G (p.Gln886=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222253]|Nijmegen breakage syndrome-like disorder [RCV002257522]|not specified [RCV002469076] |
Chr5:132604939 [GRCh38]
Chr5:131940631 [GRCh37]
Chr5:5q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.1436A>G (p.Gln479Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222267] |
Chr5:132589821 [GRCh38]
Chr5:131925513 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222314]|Nijmegen breakage syndrome-like disorder [RCV003462447]|not provided [RCV001311678] |
Chr5:132640768 [GRCh38]
Chr5:131976460 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3721A>G (p.Asn1241Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213328] |
Chr5:132640774 [GRCh38]
Chr5:131976466 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213422]|Nijmegen breakage syndrome-like disorder [RCV001290527]|not provided [RCV002478811] |
Chr5:132609340 [GRCh38]
Chr5:131945032 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2502G>C (p.Glu834Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213433]|not specified [RCV002509318] |
Chr5:132604024 [GRCh38]
Chr5:131939716 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.925C>T (p.His309Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213441] |
Chr5:132587963 [GRCh38]
Chr5:131923655 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3689T>G (p.Leu1230Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213449] |
Chr5:132640742 [GRCh38]
Chr5:131976434 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217530]|Nijmegen breakage syndrome-like disorder [RCV003462481]|not provided [RCV004998463] |
Chr5:132587695 [GRCh38]
Chr5:131923387 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.102G>A (p.Leu34=) |
single nucleotide variant |
Familial cancer of breast [RCV003316219]|Hereditary cancer-predisposing syndrome [RCV000217567] |
Chr5:132557426 [GRCh38]
Chr5:131893118 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2744dup (p.Leu915fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000217594] |
Chr5:132608637..132608638 [GRCh38]
Chr5:131944329..131944330 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562754]|Nijmegen breakage syndrome-like disorder [RCV000576837] |
Chr5:132588728 [GRCh38]
Chr5:131924420 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3260A>G (p.His1087Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213459] |
Chr5:132618165 [GRCh38]
Chr5:131953857 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.269A>G (p.Asn90Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217625]|Nijmegen breakage syndrome-like disorder [RCV004567612] |
Chr5:132575832 [GRCh38]
Chr5:131911524 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2177G>T (p.Arg726Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217648] |
Chr5:132595780 [GRCh38]
Chr5:131931472 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2129A>G (p.Asp710Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217665] |
Chr5:132595732 [GRCh38]
Chr5:131931424 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217668]|Nijmegen breakage syndrome-like disorder [RCV002494589]|not provided [RCV001311677] |
Chr5:132618134 [GRCh38]
Chr5:131953826 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.39G>C (p.Arg13=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217720] |
Chr5:132557363 [GRCh38]
Chr5:131893055 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.565T>G (p.Leu189Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217767] |
Chr5:132579875 [GRCh38]
Chr5:131915567 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2745G>A (p.Leu915=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217781] |
Chr5:132608641 [GRCh38]
Chr5:131944333 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1625C>G (p.Thr542Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220117] |
Chr5:132591396 [GRCh38]
Chr5:131927088 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3907A>G (p.Ser1303Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220147]|Premature ovarian insufficiency [RCV000766183]|not provided [RCV003477729] |
Chr5:132642332 [GRCh38]
Chr5:131978024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3618+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220163] |
Chr5:132638226 [GRCh38]
Chr5:131973918 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3805C>T (p.His1269Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213646]|Nijmegen breakage syndrome-like disorder [RCV002257523] |
Chr5:132642230 [GRCh38]
Chr5:131977922 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1692C>G (p.Thr564=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213714]|Nijmegen breakage syndrome-like disorder [RCV002257525] |
Chr5:132591933 [GRCh38]
Chr5:131927625 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3516T>C (p.Asn1172=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215423] |
Chr5:132638121 [GRCh38]
Chr5:131973813 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3275T>G (p.Leu1092Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215491] |
Chr5:132618180 [GRCh38]
Chr5:131953872 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.672T>A (p.Arg224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215511] |
Chr5:132579982 [GRCh38]
Chr5:131915674 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3168A>G (p.Glu1056=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217782] |
Chr5:132618073 [GRCh38]
Chr5:131953765 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3109G>A (p.Glu1037Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217790] |
Chr5:132616075 [GRCh38]
Chr5:131951767 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1603C>T (p.Arg535Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217880]|Nijmegen breakage syndrome-like disorder [RCV003462467]|not provided [RCV004998461] |
Chr5:132591374 [GRCh38]
Chr5:131927066 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2085A>G (p.Gln695=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217899] |
Chr5:132595688 [GRCh38]
Chr5:131931380 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3070T>G (p.Leu1024Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220259]|Nijmegen breakage syndrome-like disorder [RCV003469032] |
Chr5:132616036 [GRCh38]
Chr5:131951728 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2395C>G (p.Gln799Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220271] |
Chr5:132603487 [GRCh38]
Chr5:131939179 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+3A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220284]|Nijmegen breakage syndrome-like disorder [RCV004567654] |
Chr5:132559370 [GRCh38]
Chr5:131895062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220305]|Nijmegen breakage syndrome-like disorder [RCV002257521] |
Chr5:132595023 [GRCh38]
Chr5:131930715 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.463A>G (p.Ile155Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213774] |
Chr5:132579414 [GRCh38]
Chr5:131915106 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1556G>A (p.Arg519His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213834]|Nijmegen breakage syndrome-like disorder [RCV005044442] |
Chr5:132591327 [GRCh38]
Chr5:131927019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.912A>G (p.Leu304=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213863] |
Chr5:132587950 [GRCh38]
Chr5:131923642 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2913C>G (p.Asp971Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213893] |
Chr5:132609200 [GRCh38]
Chr5:131944892 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.749C>T (p.Pro250Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215531] |
Chr5:132580059 [GRCh38]
Chr5:131915751 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000215584]|Nijmegen breakage syndrome-like disorder [RCV003469037] |
Chr5:132579492..132579493 [GRCh38]
Chr5:131915184..131915185 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1487A>C (p.Asn496Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215627] |
Chr5:132591258 [GRCh38]
Chr5:131926950 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3349G>T (p.Val1117Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215632] |
Chr5:132618254 [GRCh38]
Chr5:131953946 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2566C>A (p.Gln856Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215635]|not provided [RCV004998492] |
Chr5:132604847 [GRCh38]
Chr5:131940539 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2548C>G (p.Arg850Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215645] |
Chr5:132604829 [GRCh38]
Chr5:131940521 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2977C>G (p.His993Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218006] |
Chr5:132609337 [GRCh38]
Chr5:131945029 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1141G>A (p.Asp381Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220392] |
Chr5:132588776 [GRCh38]
Chr5:131924468 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.304T>C (p.Cys102Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220475] |
Chr5:132575867 [GRCh38]
Chr5:131911559 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.217G>A (p.Ala73Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220496]|Nijmegen breakage syndrome-like disorder [RCV000764572] |
Chr5:132575780 [GRCh38]
Chr5:131911472 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1444A>G (p.Ile482Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213921] |
Chr5:132589829 [GRCh38]
Chr5:131925521 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1761T>A (p.Ile587=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214034] |
Chr5:132592002 [GRCh38]
Chr5:131927694 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.959G>A (p.Arg320Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214065] |
Chr5:132587997 [GRCh38]
Chr5:131923689 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2661G>A (p.Leu887=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215683] |
Chr5:132604942 [GRCh38]
Chr5:131940634 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2284C>T (p.Gln762Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215726] |
Chr5:132603376 [GRCh38]
Chr5:131939068 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.176C>T (p.Pro59Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215741] |
Chr5:132559330 [GRCh38]
Chr5:131895022 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3694G>A (p.Glu1232Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215818] |
Chr5:132640747 [GRCh38]
Chr5:131976439 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2403A>G (p.Glu801=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218116] |
Chr5:132603925 [GRCh38]
Chr5:131939617 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3187A>T (p.Asn1063Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218148] |
Chr5:132618092 [GRCh38]
Chr5:131953784 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1774G>A (p.Asp592Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218167] |
Chr5:132592015 [GRCh38]
Chr5:131927707 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218193]|Nijmegen breakage syndrome-like disorder [RCV002500724]|not provided [RCV000760839] |
Chr5:132618277 [GRCh38]
Chr5:131953969 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3560T>C (p.Val1187Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220526] |
Chr5:132638165 [GRCh38]
Chr5:131973857 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1193A>G (p.Lys398Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220551]|not specified [RCV003493518] |
Chr5:132588828 [GRCh38]
Chr5:131924520 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.214-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220656] |
Chr5:132575772 [GRCh38]
Chr5:131911464 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2718+1_2718+5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000220659] |
Chr5:132604997..132605001 [GRCh38]
Chr5:131940689..131940693 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2335A>G (p.Met779Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214097] |
Chr5:132603427 [GRCh38]
Chr5:131939119 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214129]|Nijmegen breakage syndrome-like disorder [RCV003333052] |
Chr5:132579366 [GRCh38]
Chr5:131915058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-5C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214142] |
Chr5:132575772 [GRCh38]
Chr5:131911464 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1368G>A (p.Glu456=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215837] |
Chr5:132589753 [GRCh38]
Chr5:131925445 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3682A>G (p.Ile1228Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215850] |
Chr5:132640735 [GRCh38]
Chr5:131976427 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2224T>A (p.Leu742Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215856] |
Chr5:132603316 [GRCh38]
Chr5:131939008 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2174G>T (p.Arg725Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215908] |
Chr5:132595777 [GRCh38]
Chr5:131931469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218272] |
Chr5:132559283 [GRCh38]
Chr5:131894975 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2124T>C (p.Ala708=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218282] |
Chr5:132595727 [GRCh38]
Chr5:131931419 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2584C>T (p.His862Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220704] |
Chr5:132604865 [GRCh38]
Chr5:131940557 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2738G>A (p.Ser913Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220740] |
Chr5:132608634 [GRCh38]
Chr5:131944326 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.561dup (p.Ala188fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000226081]|Nijmegen breakage syndrome-like disorder [RCV000411533] |
Chr5:132579868..132579869 [GRCh38]
Chr5:131915560..131915561 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3559G>T (p.Val1187Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220817] |
Chr5:132638164 [GRCh38]
Chr5:131973856 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.396G>A (p.Lys132=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222418] |
Chr5:132579347 [GRCh38]
Chr5:131915039 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1772G>C (p.Arg591Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222421] |
Chr5:132592013 [GRCh38]
Chr5:131927705 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1313G>A (p.Gly438Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222446] |
Chr5:132589698 [GRCh38]
Chr5:131925390 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214259] |
Chr5:132591315 [GRCh38]
Chr5:131927007 [GRCh37]
Chr5:5q31.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3242A>T (p.Tyr1081Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214274] |
Chr5:132618147 [GRCh38]
Chr5:131953839 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2113C>T (p.Leu705=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214283]|Nijmegen breakage syndrome-like disorder [RCV002257520]|RAD50-related disorder [RCV004751383]|not provided [RCV003477721]|not specified [RCV004525905] |
Chr5:132595716 [GRCh38]
Chr5:131931408 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.1891G>A (p.Asp631Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000230847] |
Chr5:132594966 [GRCh38]
Chr5:131930658 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.158G>C (p.Cys53Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216004] |
Chr5:132559312 [GRCh38]
Chr5:131895004 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1441C>T (p.Leu481Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216023] |
Chr5:132589826 [GRCh38]
Chr5:131925518 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.232G>A (p.Val78Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216115] |
Chr5:132575795 [GRCh38]
Chr5:131911487 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1300_1306del (p.Asp434fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000218400]|Nijmegen breakage syndrome-like disorder [RCV005031794] |
Chr5:132589676..132589682 [GRCh38]
Chr5:131925368..131925374 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.55G>T (p.Asp19Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220877]|not provided [RCV003477748] |
Chr5:132557379 [GRCh38]
Chr5:131893071 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.154del (p.Ile52fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000220905] |
Chr5:132559308 [GRCh38]
Chr5:131895000 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.148A>C (p.Lys50Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000228619] |
Chr5:132559302 [GRCh38]
Chr5:131894994 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1229C>G (p.Thr410Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000228008] |
Chr5:132588864 [GRCh38]
Chr5:131924556 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3698CAA[2] (p.Thr1235del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000222564] |
Chr5:132640751..132640753 [GRCh38]
Chr5:131976443..131976445 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2457A>G (p.Ile819Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222585]|Nijmegen breakage syndrome-like disorder [RCV003469034] |
Chr5:132603979 [GRCh38]
Chr5:131939671 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1651_1653dup (p.Gln551dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000222610] |
Chr5:132591889..132591890 [GRCh38]
Chr5:131927581..131927582 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3011T>C (p.Met1004Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222687] |
Chr5:132609371 [GRCh38]
Chr5:131945063 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2891A>G (p.Tyr964Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214345] |
Chr5:132609178 [GRCh38]
Chr5:131944870 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1698G>A (p.Leu566=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214394]|RAD50-related disorder [RCV003977623] |
Chr5:132591939 [GRCh38]
Chr5:131927631 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2636C>G (p.Thr879Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214403]|Nijmegen breakage syndrome-like disorder [RCV003463598] |
Chr5:132604917 [GRCh38]
Chr5:131940609 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2157A>T (p.Leu719=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214478] |
Chr5:132595760 [GRCh38]
Chr5:131931452 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3001A>G (p.Met1001Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216197]|Nijmegen breakage syndrome-like disorder [RCV003469061]|RAD50-related disorder [RCV004751386] |
Chr5:132609361 [GRCh38]
Chr5:131945053 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3877A>G (p.Ile1293Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221020] |
Chr5:132642302 [GRCh38]
Chr5:131977994 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1837A>G (p.Asn613Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221046] |
Chr5:132594912 [GRCh38]
Chr5:131930604 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1545C>A (p.Asp515Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221064] |
Chr5:132591316 [GRCh38]
Chr5:131927008 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719G>A (p.Asp907Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222736] |
Chr5:132608615 [GRCh38]
Chr5:131944307 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1930A>C (p.Arg644=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222763] |
Chr5:132595005 [GRCh38]
Chr5:131930697 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3807T>C (p.His1269=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222767] |
Chr5:132642232 [GRCh38]
Chr5:131977924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.34G>C (p.Val12Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222784] |
Chr5:132557358 [GRCh38]
Chr5:131893050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3847G>A (p.Val1283Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222800] |
Chr5:132642272 [GRCh38]
Chr5:131977964 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2549G>A (p.Arg850His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222832]|Nijmegen breakage syndrome-like disorder [RCV004567658] |
Chr5:132604830 [GRCh38]
Chr5:131940522 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222834]|Nijmegen breakage syndrome-like disorder [RCV003469105] |
Chr5:132588685 [GRCh38]
Chr5:131924377 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2003A>T (p.Gln668Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222846] |
Chr5:132595606 [GRCh38]
Chr5:131931298 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214501] |
Chr5:132609279 [GRCh38]
Chr5:131944971 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.941C>G (p.Thr314Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214570] |
Chr5:132587979 [GRCh38]
Chr5:131923671 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.477A>T (p.Gln159His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214619] |
Chr5:132579428 [GRCh38]
Chr5:131915120 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3447C>T (p.Asp1149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216331] |
Chr5:132637172 [GRCh38]
Chr5:131972864 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.109C>T (p.Pro37Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216415] |
Chr5:132557433 [GRCh38]
Chr5:131893125 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2537T>C (p.Ile846Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216436] |
Chr5:132604818 [GRCh38]
Chr5:131940510 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3706A>G (p.Asn1236Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218708]|Nijmegen breakage syndrome-like disorder [RCV005031802] |
Chr5:132640759 [GRCh38]
Chr5:131976451 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218712] |
Chr5:132557337 [GRCh38]
Chr5:131893029 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3182A>G (p.Glu1061Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218777] |
Chr5:132618087 [GRCh38]
Chr5:131953779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2273A>G (p.Asn758Ser) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030507]|Hereditary cancer-predisposing syndrome [RCV000221274]|Nijmegen breakage syndrome-like disorder [RCV003462503] |
Chr5:132603365 [GRCh38]
Chr5:131939057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222879] |
Chr5:132557325 [GRCh38]
Chr5:131893017 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2705A>C (p.Tyr902Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000230454] |
Chr5:132604986 [GRCh38]
Chr5:131940678 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2377A>G (p.Thr793Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222922] |
Chr5:132603469 [GRCh38]
Chr5:131939161 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.822C>G (p.Ala274=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222960] |
Chr5:132587627 [GRCh38]
Chr5:131923319 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) |
single nucleotide variant |
Familial cancer of breast [RCV003327385]|Hereditary cancer-predisposing syndrome [RCV000214654]|Nijmegen breakage syndrome-like disorder [RCV003462455]|RAD50-related disorder [RCV003401140]|not provided [RCV002478791]|not specified [RCV003479067] |
Chr5:132579980 [GRCh38]
Chr5:131915672 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.724A>G (p.Lys242Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214678] |
Chr5:132580034 [GRCh38]
Chr5:131915726 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.545C>A (p.Ala182Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214771]|not provided [RCV003477732] |
Chr5:132579496 [GRCh38]
Chr5:131915188 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2764T>G (p.Phe922Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214799] |
Chr5:132608660 [GRCh38]
Chr5:131944352 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.291A>G (p.Gln97=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216476] |
Chr5:132575854 [GRCh38]
Chr5:131911546 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.419T>A (p.Met140Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216481]|Nijmegen breakage syndrome-like disorder [RCV003333053] |
Chr5:132579370 [GRCh38]
Chr5:131915062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+2T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216511]|Nijmegen breakage syndrome-like disorder [RCV004567606] |
Chr5:132557455 [GRCh38]
Chr5:131893147 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.113A>G (p.Asn38Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000233503] |
Chr5:132557437 [GRCh38]
Chr5:131893129 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2383A>G (p.Met795Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216561]|not provided [RCV003477773] |
Chr5:132603475 [GRCh38]
Chr5:131939167 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1007C>G (p.Ser336Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218898] |
Chr5:132588045 [GRCh38]
Chr5:131923737 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2238A>C (p.Glu746Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218976] |
Chr5:132603330 [GRCh38]
Chr5:131939022 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2378C>T (p.Thr793Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218981] |
Chr5:132603470 [GRCh38]
Chr5:131939162 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3315A>G (p.Arg1105=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219003] |
Chr5:132618220 [GRCh38]
Chr5:131953912 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1173A>G (p.Arg391=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221303] |
Chr5:132588808 [GRCh38]
Chr5:131924500 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2607G>A (p.Glu869=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221374] |
Chr5:132604888 [GRCh38]
Chr5:131940580 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000223038] |
Chr5:132588803..132588804 [GRCh38]
Chr5:131924495..131924496 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3475+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223053]|Nijmegen breakage syndrome-like disorder [RCV001782710] |
Chr5:132637202 [GRCh38]
Chr5:131972894 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2445G>A (p.Lys815=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223059]|not specified [RCV002469075] |
Chr5:132603967 [GRCh38]
Chr5:131939659 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2724T>C (p.Ala908=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223081]|RAD50-related disorder [RCV003955283]|not provided [RCV004705051] |
Chr5:132608620 [GRCh38]
Chr5:131944312 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1595C>T (p.Thr532Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223092] |
Chr5:132591366 [GRCh38]
Chr5:131927058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.490T>C (p.Trp164Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223137] |
Chr5:132579441 [GRCh38]
Chr5:131915133 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3493A>G (p.Ile1165Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000230030] |
Chr5:132638098 [GRCh38]
Chr5:131973790 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1174del (p.Gln392fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000214856] |
Chr5:132588809 [GRCh38]
Chr5:131924501 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.918C>T (p.Asp306=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000231758] |
Chr5:132587956 [GRCh38]
Chr5:131923648 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2386G>A (p.Glu796Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216604] |
Chr5:132603478 [GRCh38]
Chr5:131939170 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1216G>C (p.Gly406Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216658] |
Chr5:132588851 [GRCh38]
Chr5:131924543 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.366-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219022] |
Chr5:132579313 [GRCh38]
Chr5:131915005 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219046]|Nijmegen breakage syndrome-like disorder [RCV000765807]|not provided [RCV004998446] |
Chr5:132609123 [GRCh38]
Chr5:131944815 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.130A>T (p.Thr44Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219093]|Nijmegen breakage syndrome-like disorder [RCV003137825] |
Chr5:132559284 [GRCh38]
Chr5:131894976 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3929A>C (p.Asn1310Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221564] |
Chr5:132642354 [GRCh38]
Chr5:131978046 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1039C>T (p.Leu347Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221569]|Nijmegen breakage syndrome-like disorder [RCV005031793] |
Chr5:132588077 [GRCh38]
Chr5:131923769 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2253A>G (p.Arg751=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221591] |
Chr5:132603345 [GRCh38]
Chr5:131939037 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1006T>A (p.Ser336Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223278] |
Chr5:132588044 [GRCh38]
Chr5:131923736 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1471G>A (p.Ala491Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223280] |
Chr5:132591242 [GRCh38]
Chr5:131926934 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1612A>G (p.Met538Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561777] |
Chr5:132591383 [GRCh38]
Chr5:131927075 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1141G>C (p.Asp381His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561818] |
Chr5:132588776 [GRCh38]
Chr5:131924468 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1385A>G (p.Tyr462Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215000] |
Chr5:132589770 [GRCh38]
Chr5:131925462 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.539T>G (p.Phe180Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215006] |
Chr5:132579490 [GRCh38]
Chr5:131915182 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2204T>A (p.Met735Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215007]|Nijmegen breakage syndrome-like disorder [RCV000764584] |
Chr5:132595807 [GRCh38]
Chr5:131931499 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3633C>T (p.Leu1211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215024] |
Chr5:132640686 [GRCh38]
Chr5:131976378 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1195C>T (p.Leu399Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215075] |
Chr5:132588830 [GRCh38]
Chr5:131924522 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2176C>T (p.Arg726Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215098] |
Chr5:132595779 [GRCh38]
Chr5:131931471 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1970-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216775] |
Chr5:132595571 [GRCh38]
Chr5:131931263 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3933T>C (p.Val1311=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216859] |
Chr5:132642358 [GRCh38]
Chr5:131978050 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1079A>G (p.His360Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219201] |
Chr5:132588714 [GRCh38]
Chr5:131924406 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2017C>G (p.Leu673Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219245] |
Chr5:132595620 [GRCh38]
Chr5:131931312 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.906G>A (p.Glu302=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221657] |
Chr5:132587944 [GRCh38]
Chr5:131923636 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.33C>T (p.Gly11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221730] |
Chr5:132557357 [GRCh38]
Chr5:131893049 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.1494A>C (p.Glu498Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223305] |
Chr5:132591265 [GRCh38]
Chr5:131926957 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1366G>T (p.Glu456Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223373] |
Chr5:132589751 [GRCh38]
Chr5:131925443 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3010A>G (p.Met1004Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000223445]|not provided [RCV004725084] |
Chr5:132609370 [GRCh38]
Chr5:131945062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3590T>G (p.Met1197Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562098] |
Chr5:132638195 [GRCh38]
Chr5:131973887 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3590T>C (p.Met1197Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215151] |
Chr5:132638195 [GRCh38]
Chr5:131973887 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2330C>T (p.Thr777Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215188] |
Chr5:132603422 [GRCh38]
Chr5:131939114 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1742A>G (p.His581Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216998] |
Chr5:132591983 [GRCh38]
Chr5:131927675 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.645A>T (p.Gln215His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217028] |
Chr5:132579955 [GRCh38]
Chr5:131915647 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219355]|Nijmegen breakage syndrome-like disorder [RCV003468998] |
Chr5:132638102 [GRCh38]
Chr5:131973794 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3402A>G (p.Lys1134=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219420] |
Chr5:132637127 [GRCh38]
Chr5:131972819 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219442] |
Chr5:132640669 [GRCh38]
Chr5:131976361 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1153C>T (p.Arg385Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219445] |
Chr5:132588788 [GRCh38]
Chr5:131924480 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1971C>G (p.Ala657=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000232581] |
Chr5:132595574 [GRCh38]
Chr5:131931266 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.978T>C (p.His326=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000229576] |
Chr5:132588016 [GRCh38]
Chr5:131923708 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000229634]|Nijmegen breakage syndrome-like disorder [RCV002500789]|not provided [RCV004999150] |
Chr5:132595041 [GRCh38]
Chr5:131930733 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1847A>G (p.Lys616Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000227918] |
Chr5:132594922 [GRCh38]
Chr5:131930614 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1744A>G (p.Ser582Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000230231] |
Chr5:132591985 [GRCh38]
Chr5:131927677 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3930T>C (p.Asn1310=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021463] |
Chr5:132642355 [GRCh38]
Chr5:131978047 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.371G>C (p.Gly124Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000231352] |
Chr5:132579322 [GRCh38]
Chr5:131915014 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3028dup (p.Thr1010fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000231380] |
Chr5:132609387..132609388 [GRCh38]
Chr5:131945079..131945080 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1690A>C (p.Thr564Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000229564] |
Chr5:132591931 [GRCh38]
Chr5:131927623 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2289C>G (p.Arg763=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000231862] |
Chr5:132603381 [GRCh38]
Chr5:131939073 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3266_3273delinsT (p.Lys1089fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000232037] |
Chr5:132618171..132618178 [GRCh38]
Chr5:131953863..131953870 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2865T>C (p.His955=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016827] |
Chr5:132609152 [GRCh38]
Chr5:131944844 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2508G>A (p.Gln836=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000225814] |
Chr5:132604030 [GRCh38]
Chr5:131939722 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3394A>G (p.Ile1132Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000232783] |
Chr5:132637119 [GRCh38]
Chr5:131972811 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.351C>T (p.Val117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001392125] |
Chr5:132575914 [GRCh38]
Chr5:131911606 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2396A>G (p.Gln799Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000233109] |
Chr5:132603488 [GRCh38]
Chr5:131939180 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3134T>G (p.Met1045Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000231434]|Nijmegen breakage syndrome-like disorder [RCV005031817] |
Chr5:132616100 [GRCh38]
Chr5:131951792 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000226547]|Nijmegen breakage syndrome-like disorder [RCV000576613] |
Chr5:132638094..132638100 [GRCh38]
Chr5:131973786..131973792 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1636-9T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000226714] |
Chr5:132591868 [GRCh38]
Chr5:131927560 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1605T>C (p.Arg535=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000232138]|not specified [RCV000780660] |
Chr5:132591376 [GRCh38]
Chr5:131927068 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1692C>A (p.Thr564=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001485081] |
Chr5:132591933 [GRCh38]
Chr5:131927625 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1314A>T (p.Gly438=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001452392] |
Chr5:132589699 [GRCh38]
Chr5:131925391 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.188G>A (p.Gly63Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000227017] |
Chr5:132559342 [GRCh38]
Chr5:131895034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3897T>A (p.Ile1299=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000233924] |
Chr5:132642322 [GRCh38]
Chr5:131978014 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3120A>C (p.Gln1040His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000234101] |
Chr5:132616086 [GRCh38]
Chr5:131951778 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2754A>G (p.Thr918=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016503] |
Chr5:132608650 [GRCh38]
Chr5:131944342 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.114T>A (p.Asn38Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000227199] |
Chr5:132557438 [GRCh38]
Chr5:131893130 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3799dup (p.Ile1267fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000234299] |
Chr5:132642222..132642223 [GRCh38]
Chr5:131977914..131977915 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1794-7A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000233092] |
Chr5:132594862 [GRCh38]
Chr5:131930554 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000233185]|Nijmegen breakage syndrome-like disorder [RCV000764582] |
Chr5:132594951 [GRCh38]
Chr5:131930643 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2756T>C (p.Leu919Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000227869] |
Chr5:132608652 [GRCh38]
Chr5:131944344 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1042G>A (p.Val348Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000225923] |
Chr5:132588080 [GRCh38]
Chr5:131923772 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3288A>G (p.Gln1096=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000225948]|RAD50-related disorder [RCV004751392]|not provided [RCV002479919] |
Chr5:132618193 [GRCh38]
Chr5:131953885 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3193G>A (p.Asp1065Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000228148]|Nijmegen breakage syndrome-like disorder [RCV003463670]|not provided [RCV002479918] |
Chr5:132618098 [GRCh38]
Chr5:131953790 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1552C>T (p.Leu518=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001437124] |
Chr5:132591323 [GRCh38]
Chr5:131927015 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000226337] |
Chr5:132616134 [GRCh38]
Chr5:131951826 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2026G>A (p.Glu676Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000234381] |
Chr5:132595629 [GRCh38]
Chr5:131931321 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3520T>G (p.Ser1174Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001367704] |
Chr5:132638125 [GRCh38]
Chr5:131973817 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1245+2C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000234702] |
Chr5:132588882 [GRCh38]
Chr5:131924574 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2380A>G (p.Ile794Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000229257] |
Chr5:132603472 [GRCh38]
Chr5:131939164 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3697C>A (p.Pro1233Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000227459]|Nijmegen breakage syndrome-like disorder [RCV003463671] |
Chr5:132640750 [GRCh38]
Chr5:131976442 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.592A>G (p.Thr198Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563813] |
Chr5:132579902 [GRCh38]
Chr5:131915594 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.748C>A (p.Pro250Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565214] |
Chr5:132580058 [GRCh38]
Chr5:131915750 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2361del (p.Cys788fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000565287] |
Chr5:132603453 [GRCh38]
Chr5:131939145 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.298A>G (p.Met100Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000529376] |
Chr5:132575861 [GRCh38]
Chr5:131911553 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3538C>T (p.Arg1180Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562516]|Nijmegen breakage syndrome-like disorder [RCV004569132] |
Chr5:132638143 [GRCh38]
Chr5:131973835 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1998C>T (p.Tyr666=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563552] |
Chr5:132595601 [GRCh38]
Chr5:131931293 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2450A>G (p.Gln817Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563558] |
Chr5:132603972 [GRCh38]
Chr5:131939664 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3618+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564466] |
Chr5:132638228 [GRCh38]
Chr5:131973920 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.666G>A (p.Glu222=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552055] |
Chr5:132579976 [GRCh38]
Chr5:131915668 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1572G>T (p.Glu524Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564998] |
Chr5:132591343 [GRCh38]
Chr5:131927035 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3057A>G (p.Gln1019=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565069] |
Chr5:132616023 [GRCh38]
Chr5:131951715 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566100]|Nijmegen breakage syndrome-like disorder [RCV000765809] |
Chr5:132618175 [GRCh38]
Chr5:131953867 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3210T>C (p.Asn1070=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001493734] |
Chr5:132618115 [GRCh38]
Chr5:131953807 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1203A>G (p.Arg401=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564243] |
Chr5:132588838 [GRCh38]
Chr5:131924530 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1194del (p.Lys398fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000564244] |
Chr5:132588827 [GRCh38]
Chr5:131924519 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2830-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564761] |
Chr5:132609115 [GRCh38]
Chr5:131944807 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2829+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567858] |
Chr5:132608730 [GRCh38]
Chr5:131944422 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3 |
likely benign |
| NM_005732.4(RAD50):c.1376del (p.Asn459fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000566598] |
Chr5:132589757 [GRCh38]
Chr5:131925449 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3105A>G (p.Glu1035=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000525358] |
Chr5:132616071 [GRCh38]
Chr5:131951763 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1079A>T (p.His360Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565555] |
Chr5:132588714 [GRCh38]
Chr5:131924406 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3525_3538del (p.Ser1176fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000565589] |
Chr5:132638128..132638141 [GRCh38]
Chr5:131973820..131973833 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.963A>G (p.Lys321=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567101] |
Chr5:132588001 [GRCh38]
Chr5:131923693 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+19G>A |
single nucleotide variant |
Familial cancer of breast [RCV003316429]|Hereditary cancer-predisposing syndrome [RCV001509814]|Nijmegen breakage syndrome-like disorder [RCV000611007]|not provided [RCV000590288]|not specified [RCV000245201] |
Chr5:132579521 [GRCh38]
Chr5:131915213 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2505A>G (p.Lys835=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565675] |
Chr5:132604027 [GRCh38]
Chr5:131939719 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3511G>A (p.Glu1171Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567270] |
Chr5:132638116 [GRCh38]
Chr5:131973808 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.3(RAD50):c.3476-?_3618+?dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000240200] |
|
likely pathogenic |
| NM_005732.4(RAD50):c.552-8C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000550375] |
Chr5:132579854 [GRCh38]
Chr5:131915546 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524G>A (p.Val842Ile) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV001374466] |
Chr5:132604046 [GRCh38]
Chr5:131939738 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.977A>G (p.His326Arg) |
single nucleotide variant |
Familial cancer of breast [RCV004597819]|Hereditary cancer-predisposing syndrome [RCV000548676]|Nijmegen breakage syndrome-like disorder [RCV003470725] |
Chr5:132588015 [GRCh38]
Chr5:131923707 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000526269] |
Chr5:132616138 [GRCh38]
Chr5:131951830 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3600A>T (p.Arg1200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556088] |
Chr5:132638205 [GRCh38]
Chr5:131973897 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1510G>A (p.Val504Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565371] |
Chr5:132591281 [GRCh38]
Chr5:131926973 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1543G>C (p.Asp515His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569059] |
Chr5:132591314 [GRCh38]
Chr5:131927006 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000572364]|Nijmegen breakage syndrome-like disorder [RCV000490333] |
Chr5:132642231..132642232 [GRCh38]
Chr5:131977923..131977924 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000567846]|Nijmegen breakage syndrome-like disorder [RCV000781782] |
Chr5:132588806..132588809 [GRCh38]
Chr5:131924498..131924501 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3744T>C (p.Ala1248=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568633] |
Chr5:132640797 [GRCh38]
Chr5:131976489 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213G>A (p.Lys71=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568649] |
Chr5:132559367 [GRCh38]
Chr5:131895059 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.788C>G (p.Ser263Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001367901] |
Chr5:132587593 [GRCh38]
Chr5:131923285 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.778C>A (p.His260Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560493] |
Chr5:132587583 [GRCh38]
Chr5:131923275 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2305GAA[1] (p.Glu770del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000565690] |
Chr5:132603396..132603398 [GRCh38]
Chr5:131939088..131939090 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3306A>T (p.Glu1102Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565883] |
Chr5:132618211 [GRCh38]
Chr5:131953903 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2841T>C (p.Ile947=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568707] |
Chr5:132609128 [GRCh38]
Chr5:131944820 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3707dup (p.Asn1236fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000566959] |
Chr5:132640757..132640758 [GRCh38]
Chr5:131976449..131976450 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.636T>C (p.Tyr212=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567013] |
Chr5:132579946 [GRCh38]
Chr5:131915638 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567152]|Nijmegen breakage syndrome-like disorder [RCV003465274] |
Chr5:132595629 [GRCh38]
Chr5:131931321 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1826A>C (p.Asn609Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000529911] |
Chr5:132594901 [GRCh38]
Chr5:131930593 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2193A>T (p.Gly731=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567363] |
Chr5:132595796 [GRCh38]
Chr5:131931488 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.10:g.(?_132575771)_(132580072_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000530964] |
Chr5:132575771..132580072 [GRCh38]
Chr5:131911463..131915764 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3918C>G (p.Ser1306=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568096] |
Chr5:132642343 [GRCh38]
Chr5:131978035 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3737_3740delinsTACT (p.Ala1246_His1247delinsValLeu) |
indel |
Hereditary cancer-predisposing syndrome [RCV000568250] |
Chr5:132640790..132640793 [GRCh38]
Chr5:131976482..131976485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568771] |
Chr5:132591404 [GRCh38]
Chr5:131927096 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) |
single nucleotide variant |
Familial cancer of breast [RCV003314607]|Hereditary cancer-predisposing syndrome [RCV000549375]|Nijmegen breakage syndrome-like disorder [RCV005034087]|not specified [RCV003987585] |
Chr5:132637145 [GRCh38]
Chr5:131972837 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1587C>T (p.Asn529=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000548836] |
Chr5:132591358 [GRCh38]
Chr5:131927050 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2589A>G (p.Leu863=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000553020]|RAD50-related disorder [RCV003942741]|not provided [RCV003478130] |
Chr5:132604870 [GRCh38]
Chr5:131940562 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.495T>C (p.Pro165=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000548927] |
Chr5:132579446 [GRCh38]
Chr5:131915138 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.267C>T (p.Val89=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000554365] |
Chr5:132575830 [GRCh38]
Chr5:131911522 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556040]|Nijmegen breakage syndrome-like disorder [RCV001783031] |
Chr5:132559368 [GRCh38]
Chr5:131895060 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.558T>G (p.Ile186Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567720] |
Chr5:132579868 [GRCh38]
Chr5:131915560 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000530521] |
Chr5:132559372 [GRCh38]
Chr5:131895064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1417A>G (p.Arg473Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565448] |
Chr5:132589802 [GRCh38]
Chr5:131925494 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1561C>T (p.Leu521Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565862] |
Chr5:132591332 [GRCh38]
Chr5:131927024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+3A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565912] |
Chr5:132605002 [GRCh38]
Chr5:131940694 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-9del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002065135]|not provided [RCV000588305] |
Chr5:132591859 [GRCh38]
Chr5:131927551 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2970C>T (p.Cys990=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566019]|not provided [RCV004584761] |
Chr5:132609330 [GRCh38]
Chr5:131945022 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3445G>A (p.Asp1149Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000528212] |
Chr5:132637170 [GRCh38]
Chr5:131972862 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.96A>G (p.Thr32=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568601] |
Chr5:132557420 [GRCh38]
Chr5:131893112 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3207A>G (p.Arg1069=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568620] |
Chr5:132618112 [GRCh38]
Chr5:131953804 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3497G>A (p.Arg1166Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568627] |
Chr5:132638102 [GRCh38]
Chr5:131973794 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2 |
pathogenic |
| NM_005732.4(RAD50):c.2178T>C (p.Arg726=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566787] |
Chr5:132595781 [GRCh38]
Chr5:131931473 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3297T>A (p.Asp1099Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000551885] |
Chr5:132618202 [GRCh38]
Chr5:131953894 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567131] |
Chr5:132591409 [GRCh38]
Chr5:131927101 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3503A>C (p.Asp1168Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569233] |
Chr5:132638108 [GRCh38]
Chr5:131973800 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567594] |
Chr5:132637205 [GRCh38]
Chr5:131972897 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3642C>T (p.Arg1214=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567629]|not provided [RCV003478218] |
Chr5:132640695 [GRCh38]
Chr5:131976387 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2859T>C (p.Asn953=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000552790] |
Chr5:132609146 [GRCh38]
Chr5:131944838 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1578G>A (p.Glu526=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567666] |
Chr5:132591349 [GRCh38]
Chr5:131927041 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3117ACA[1] (p.Gln1040del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000568927] |
Chr5:132616082..132616084 [GRCh38]
Chr5:131951774..131951776 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3410G>A (p.Ser1137Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569126] |
Chr5:132637135 [GRCh38]
Chr5:131972827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3242A>G (p.Tyr1081Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000555478] |
Chr5:132618147 [GRCh38]
Chr5:131953839 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1801C>G (p.Leu601Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569956] |
Chr5:132594876 [GRCh38]
Chr5:131930568 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3766C>T (p.Arg1256Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569980] |
Chr5:132642191 [GRCh38]
Chr5:131977883 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3211_3213del (p.His1071del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000569992] |
Chr5:132618114..132618116 [GRCh38]
Chr5:131953806..131953808 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1082A>G (p.Gln361Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556579] |
Chr5:132588717 [GRCh38]
Chr5:131924409 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.552-1G>A |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002271531]|Hereditary cancer-predisposing syndrome [RCV000570029]|Nijmegen breakage syndrome-like disorder [RCV001783075] |
Chr5:132579861 [GRCh38]
Chr5:131915553 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1177A>T (p.Ile393Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000806012] |
Chr5:132588812 [GRCh38]
Chr5:131924504 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.119C>T (p.Ala40Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570163]|Nijmegen breakage syndrome-like disorder [RCV000764570] |
Chr5:132557443 [GRCh38]
Chr5:131893135 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2486A>G (p.Asn829Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571797] |
Chr5:132604008 [GRCh38]
Chr5:131939700 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2679A>G (p.Glu893=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571836] |
Chr5:132604960 [GRCh38]
Chr5:131940652 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1279_1281del (p.Lys427del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000539825] |
Chr5:132589662..132589664 [GRCh38]
Chr5:131925354..131925356 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.121G>A (p.Gly41Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574715] |
Chr5:132557445 [GRCh38]
Chr5:131893137 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.287T>C (p.Val96Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574720]|Nijmegen breakage syndrome-like disorder [RCV002258970] |
Chr5:132575850 [GRCh38]
Chr5:131911542 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246-8G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001403238]|Nijmegen breakage syndrome-like disorder [RCV000410829] |
Chr5:132589623 [GRCh38]
Chr5:131925315 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3648C>T (p.Ala1216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020796] |
Chr5:132640701 [GRCh38]
Chr5:131976393 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618G>T (p.Lys1206Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000557030] |
Chr5:132638223 [GRCh38]
Chr5:131973915 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1315_1317delinsATT (p.Leu439Ile) |
indel |
Hereditary cancer-predisposing syndrome [RCV000559606] |
Chr5:132589700..132589702 [GRCh38]
Chr5:131925392..131925394 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.85A>G (p.Ser29Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571940] |
Chr5:132557409 [GRCh38]
Chr5:131893101 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1970-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000534908] |
Chr5:132595572 [GRCh38]
Chr5:131931264 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.50T>C (p.Ile17Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000537327]|Nijmegen breakage syndrome-like disorder [RCV005034088] |
Chr5:132557374 [GRCh38]
Chr5:131893066 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-3dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000572099] |
Chr5:132594862..132594863 [GRCh38]
Chr5:131930554..131930555 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3037-6C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000559872]|Nijmegen breakage syndrome-like disorder [RCV000987600] |
Chr5:132615997 [GRCh38]
Chr5:131951689 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.756G>A (p.Lys252=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573353] |
Chr5:132580066 [GRCh38]
Chr5:131915758 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1651C>G (p.Gln551Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573865]|Nijmegen breakage syndrome-like disorder [RCV004569243] |
Chr5:132591892 [GRCh38]
Chr5:131927584 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3378G>C (p.Lys1126Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574770] |
Chr5:132618283 [GRCh38]
Chr5:131953975 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.796A>T (p.Met266Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573200] |
Chr5:132587601 [GRCh38]
Chr5:131923293 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1018A>T (p.Asn340Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573480] |
Chr5:132588056 [GRCh38]
Chr5:131923748 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2829+6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000539571] |
Chr5:132608731 [GRCh38]
Chr5:131944423 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3485A>T (p.Tyr1162Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573954] |
Chr5:132638090 [GRCh38]
Chr5:131973782 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3201A>C (p.Ile1067=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574830] |
Chr5:132618106 [GRCh38]
Chr5:131953798 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1970-1_1972dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000569347] |
Chr5:132595570..132595571 [GRCh38]
Chr5:131931262..131931263 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.300G>A (p.Met100Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000535281] |
Chr5:132575863 [GRCh38]
Chr5:131911555 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.548C>T (p.Thr183Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570812]|Nijmegen breakage syndrome-like disorder [RCV002257846] |
Chr5:132579499 [GRCh38]
Chr5:131915191 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3427A>G (p.Ile1143Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570824] |
Chr5:132637152 [GRCh38]
Chr5:131972844 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.810T>C (p.Asn270=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572386] |
Chr5:132587615 [GRCh38]
Chr5:131923307 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.630A>G (p.Leu210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573551] |
Chr5:132579940 [GRCh38]
Chr5:131915632 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1878A>G (p.Glu626=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573614] |
Chr5:132594953 [GRCh38]
Chr5:131930645 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2287C>T (p.Arg763Cys) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030508]|Hereditary cancer-predisposing syndrome [RCV000570865] |
Chr5:132603379 [GRCh38]
Chr5:131939071 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570931] |
Chr5:132559370 [GRCh38]
Chr5:131895062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2227A>T (p.Lys743Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570950] |
Chr5:132603319 [GRCh38]
Chr5:131939011 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572566]|Nijmegen breakage syndrome-like disorder [RCV001783076] |
Chr5:132608666 [GRCh38]
Chr5:131944358 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1725G>A (p.Gln575=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574093] |
Chr5:132591966 [GRCh38]
Chr5:131927658 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.573A>C (p.Thr191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574157] |
Chr5:132579883 [GRCh38]
Chr5:131915575 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3712G>A (p.Asp1238Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574952] |
Chr5:132640765 [GRCh38]
Chr5:131976457 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+22_3164+25dup |
duplication |
Nijmegen breakage syndrome-like disorder [RCV000412064] |
Chr5:132616150..132616151 [GRCh38]
Chr5:131951842..131951843 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3088G>A (p.Glu1030Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572626] |
Chr5:132616054 [GRCh38]
Chr5:131951746 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571089] |
Chr5:132616131 [GRCh38]
Chr5:131951823 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.72del (p.Ile25fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000571181] |
Chr5:132557395 [GRCh38]
Chr5:131893087 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.387G>A (p.Leu129=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574332] |
Chr5:132579338 [GRCh38]
Chr5:131915030 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366G>T (p.Lys122Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575080] |
Chr5:132579317 [GRCh38]
Chr5:131915009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.158G>A (p.Cys53Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571396]|Nijmegen breakage syndrome-like disorder [RCV004569161] |
Chr5:132559312 [GRCh38]
Chr5:131895004 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3765T>G (p.Ser1255Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571418] |
Chr5:132642190 [GRCh38]
Chr5:131977882 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2286G>A (p.Gln762=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572791] |
Chr5:132603378 [GRCh38]
Chr5:131939070 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2122G>C (p.Ala708Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572838] |
Chr5:132595725 [GRCh38]
Chr5:131931417 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1419G>A (p.Arg473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572933] |
Chr5:132589804 [GRCh38]
Chr5:131925496 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2858A>G (p.Asn953Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574397] |
Chr5:132609145 [GRCh38]
Chr5:131944837 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3444T>C (p.Arg1148=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575161] |
Chr5:132637169 [GRCh38]
Chr5:131972861 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.881A>T (p.Glu294Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569627] |
Chr5:132587686 [GRCh38]
Chr5:131923378 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1430T>G (p.Leu477Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572964] |
Chr5:132589815 [GRCh38]
Chr5:131925507 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1839T>C (p.Asn613=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574488] |
Chr5:132594914 [GRCh38]
Chr5:131930606 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564613] |
Chr5:132579315 [GRCh38]
Chr5:131915007 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3729A>C (p.Glu1243Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569687] |
Chr5:132640782 [GRCh38]
Chr5:131976474 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.81C>A (p.Phe27Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000536537]|Nijmegen breakage syndrome-like disorder [RCV003459189] |
Chr5:132557405 [GRCh38]
Chr5:131893097 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1352G>A (p.Ser451Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000536564] |
Chr5:132589737 [GRCh38]
Chr5:131925429 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3866T>A (p.Ile1289Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571645] |
Chr5:132642291 [GRCh38]
Chr5:131977983 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.434G>C (p.Gly145Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566174] |
Chr5:132579385 [GRCh38]
Chr5:131915077 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2306A>C (p.Glu769Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568558] |
Chr5:132603398 [GRCh38]
Chr5:131939090 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3222A>G (p.Ala1074=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556251] |
Chr5:132618127 [GRCh38]
Chr5:131953819 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3331A>G (p.Met1111Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000533919] |
Chr5:132618236 [GRCh38]
Chr5:131953928 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.365A>C (p.Lys122Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574608] |
Chr5:132575928 [GRCh38]
Chr5:131911620 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_005732.4(RAD50):c.1061A>G (p.Gln354Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568209]|Nijmegen breakage syndrome-like disorder [RCV005034132] |
Chr5:132588696 [GRCh38]
Chr5:131924388 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000697811]|Nijmegen breakage syndrome-like disorder [RCV001784329] |
Chr5:132609171 [GRCh38]
Chr5:131944863 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.131C>A (p.Thr44Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000531260] |
Chr5:132559285 [GRCh38]
Chr5:131894977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3810T>C (p.Asp1270=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568123] |
Chr5:132642235 [GRCh38]
Chr5:131977927 [GRCh37]
Chr5:5q31.1 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3 |
pathogenic |
| NM_005732.4(RAD50):c.979C>T (p.Arg327Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458867]|RAD50-related disorder [RCV004751534] |
Chr5:132588017 [GRCh38]
Chr5:131923709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1488T>C (p.Asn496=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458938] |
Chr5:132591259 [GRCh38]
Chr5:131926951 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3660G>T (p.Thr1220=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001412582] |
Chr5:132640713 [GRCh38]
Chr5:131976405 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.154A>G (p.Ile52Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000466494] |
Chr5:132559308 [GRCh38]
Chr5:131895000 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3774G>A (p.Gln1258=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021104] |
Chr5:132642199 [GRCh38]
Chr5:131977891 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.98T>G (p.Ile33Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470145] |
Chr5:132557422 [GRCh38]
Chr5:131893114 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1676A>G (p.His559Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470308] |
Chr5:132591917 [GRCh38]
Chr5:131927609 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.597A>C (p.Gln199His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470341] |
Chr5:132579907 [GRCh38]
Chr5:131915599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132556924)_(132557453_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000474011] |
Chr5:132556924..132557453 [GRCh38]
Chr5:131892616..131893145 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1553T>C (p.Leu518Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000459132] |
Chr5:132591324 [GRCh38]
Chr5:131927016 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1269T>G (p.Thr423=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001410344] |
Chr5:132589654 [GRCh38]
Chr5:131925346 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2755T>C (p.Leu919=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000459316] |
Chr5:132608651 [GRCh38]
Chr5:131944343 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1032A>G (p.Ser344=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001499658] |
Chr5:132588070 [GRCh38]
Chr5:131923762 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1129C>G (p.Gln377Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000466724]|RAD50-related disorder [RCV003401474]|not provided [RCV004696224] |
Chr5:132588764 [GRCh38]
Chr5:131924456 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3384T>A (p.Leu1128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001505785]|RAD50-related disorder [RCV003970327] |
Chr5:132618289 [GRCh38]
Chr5:131953981 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+10C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000474190] |
Chr5:132608735 [GRCh38]
Chr5:131944427 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3037A>G (p.Ile1013Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460333] |
Chr5:132616003 [GRCh38]
Chr5:131951695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.861T>C (p.Ser287=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000462070] |
Chr5:132587666 [GRCh38]
Chr5:131923358 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.63T>G (p.Asp21Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000459402]|Nijmegen breakage syndrome-like disorder [RCV004568014]|RAD50-related disorder [RCV004751536] |
Chr5:132557387 [GRCh38]
Chr5:131893079 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.257T>G (p.Phe86Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000459471]|not provided [RCV003477957] |
Chr5:132575820 [GRCh38]
Chr5:131911512 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132575777)_(132575928_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000459546] |
Chr5:132575777..132575928 [GRCh38]
Chr5:131911469..131911620 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3629C>T (p.Ser1210Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000463229] |
Chr5:132640682 [GRCh38]
Chr5:131976374 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2829+6A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000463285] |
Chr5:132608731 [GRCh38]
Chr5:131944423 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2569C>T (p.Gln857Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000467015] |
Chr5:132604850 [GRCh38]
Chr5:131940542 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1552C>G (p.Leu518Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470738] |
Chr5:132591323 [GRCh38]
Chr5:131927015 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.212A>G (p.Lys71Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470792] |
Chr5:132559366 [GRCh38]
Chr5:131895058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1530A>G (p.Glu510=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001413452] |
Chr5:132591301 [GRCh38]
Chr5:131926993 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.384T>G (p.Ser128Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464040] |
Chr5:132579335 [GRCh38]
Chr5:131915027 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3244G>A (p.Glu1082Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464691] |
Chr5:132618149 [GRCh38]
Chr5:131953841 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1177A>G (p.Ile393Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000456137] |
Chr5:132588812 [GRCh38]
Chr5:131924504 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001501312]|not specified [RCV003155196] |
Chr5:132594860 [GRCh38]
Chr5:131930552 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2985_2989del (p.Glu995fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000463503] |
Chr5:132609340..132609344 [GRCh38]
Chr5:131945032..131945036 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1815G>C (p.Glu605Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000467180]|not provided [RCV003477956] |
Chr5:132594890 [GRCh38]
Chr5:131930582 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3625G>A (p.Ala1209Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470980]|Nijmegen breakage syndrome-like disorder [RCV003470447] |
Chr5:132640678 [GRCh38]
Chr5:131976370 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3640C>T (p.Arg1214Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000470984] |
Chr5:132640693 [GRCh38]
Chr5:131976385 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1929C>T (p.Asp643=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000474626] |
Chr5:132595004 [GRCh38]
Chr5:131930696 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2911G>A (p.Asp971Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000474636] |
Chr5:132609198 [GRCh38]
Chr5:131944890 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.414A>C (p.Arg138=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001399226] |
Chr5:132579365 [GRCh38]
Chr5:131915057 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.385C>G (p.Leu129Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000471012] |
Chr5:132579336 [GRCh38]
Chr5:131915028 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1007C>T (p.Ser336Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000456277] |
Chr5:132588045 [GRCh38]
Chr5:131923737 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3820G>A (p.Val1274Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000463762] |
Chr5:132642245 [GRCh38]
Chr5:131977937 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3770C>A (p.Ser1257Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000467476] |
Chr5:132642195 [GRCh38]
Chr5:131977887 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.2337G>A (p.Met779Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476347] |
Chr5:132603429 [GRCh38]
Chr5:131939121 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.10A>G (p.Ile4Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460051] |
Chr5:132557334 [GRCh38]
Chr5:131893026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3618+7A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001422842] |
Chr5:132638230 [GRCh38]
Chr5:131973922 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2020A>G (p.Thr674Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460237] |
Chr5:132595623 [GRCh38]
Chr5:131931315 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3561G>A (p.Val1187=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000463829] |
Chr5:132638166 [GRCh38]
Chr5:131973858 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.911T>C (p.Leu304Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000471413] |
Chr5:132587949 [GRCh38]
Chr5:131923641 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1866G>T (p.Leu622Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000471419] |
Chr5:132594941 [GRCh38]
Chr5:131930633 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.183C>G (p.Thr61=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000471547] |
Chr5:132559337 [GRCh38]
Chr5:131895029 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2409A>G (p.Lys803=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000456651]|not specified [RCV003401500] |
Chr5:132603931 [GRCh38]
Chr5:131939623 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.472C>T (p.His158Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464289] |
Chr5:132579423 [GRCh38]
Chr5:131915115 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000467958]|not provided [RCV004999500] |
Chr5:132609273 [GRCh38]
Chr5:131944965 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3030A>G (p.Thr1010=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001503127] |
Chr5:132609390 [GRCh38]
Chr5:131945082 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2165del (p.Lys722fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000471690] |
Chr5:132595760 [GRCh38]
Chr5:131931452 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2979C>T (p.His993=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001406379] |
Chr5:132609339 [GRCh38]
Chr5:131945031 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3641G>A (p.Arg1214His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000471805]|Nijmegen breakage syndrome-like disorder [RCV004568013] |
Chr5:132640694 [GRCh38]
Chr5:131976386 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000457032]|Nijmegen breakage syndrome-like disorder [RCV002496765] |
Chr5:132589637..132589638 [GRCh38]
Chr5:131925329..131925330 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.129+10C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460532] |
Chr5:132557463 [GRCh38]
Chr5:131893155 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.698A>G (p.Gln233Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460569] |
Chr5:132580008 [GRCh38]
Chr5:131915700 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2586T>C (p.His862=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464387] |
Chr5:132604867 [GRCh38]
Chr5:131940559 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1357A>C (p.Lys453Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464508] |
Chr5:132589742 [GRCh38]
Chr5:131925434 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3028A>G (p.Thr1010Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000468127] |
Chr5:132609388 [GRCh38]
Chr5:131945080 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1289A>T (p.Asp430Val) |
single nucleotide variant |
Familial cancer of breast [RCV004597803]|Hereditary cancer-predisposing syndrome [RCV000468225]|Nijmegen breakage syndrome-like disorder [RCV004568011]|not provided [RCV004999453] |
Chr5:132589674 [GRCh38]
Chr5:131925366 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.929A>G (p.Asn310Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472001] |
Chr5:132587967 [GRCh38]
Chr5:131923659 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000472041]|Nijmegen breakage syndrome-like disorder [RCV000576588] |
Chr5:132609388..132609391 [GRCh38]
Chr5:131945080..131945083 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1662A>G (p.Lys554=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457107]|not provided [RCV004707302] |
Chr5:132591903 [GRCh38]
Chr5:131927595 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457129]|Nijmegen breakage syndrome-like disorder [RCV002489046]|not provided [RCV003477958] |
Chr5:132604014 [GRCh38]
Chr5:131939706 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.772A>G (p.Ile258Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457203] |
Chr5:132587577 [GRCh38]
Chr5:131923269 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2626C>A (p.Gln876Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000460786] |
Chr5:132604907 [GRCh38]
Chr5:131940599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3609T>G (p.Ala1203=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464628]|not provided [RCV003478016] |
Chr5:132638214 [GRCh38]
Chr5:131973906 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3612_3618+5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000464633]|Nijmegen breakage syndrome-like disorder [RCV002496766] |
Chr5:132638215..132638226 [GRCh38]
Chr5:131973907..131973918 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2599A>G (p.Thr867Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464683] |
Chr5:132604880 [GRCh38]
Chr5:131940572 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.186A>C (p.Lys62Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000468427] |
Chr5:132559340 [GRCh38]
Chr5:131895032 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3753-4G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021055]|not provided [RCV003478015] |
Chr5:132642174 [GRCh38]
Chr5:131977866 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.213+6G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472270] |
Chr5:132559373 [GRCh38]
Chr5:131895065 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3619-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001438050] |
Chr5:132640662 [GRCh38]
Chr5:131976354 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2712G>A (p.Glu904=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000475970] |
Chr5:132604993 [GRCh38]
Chr5:131940685 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1492G>A (p.Glu498Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457273] |
Chr5:132591263 [GRCh38]
Chr5:131926955 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2106G>A (p.Gln702=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457332] |
Chr5:132595709 [GRCh38]
Chr5:131931401 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3749T>C (p.Val1250Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000461166] |
Chr5:132640802 [GRCh38]
Chr5:131976494 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1771A>G (p.Arg591Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000464955] |
Chr5:132592012 [GRCh38]
Chr5:131927704 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1083A>G (p.Gln361=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017227] |
Chr5:132588718 [GRCh38]
Chr5:131924410 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+9C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000468602] |
Chr5:132640814 [GRCh38]
Chr5:131976506 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.474_483delinsAA (p.His158fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000472391] |
Chr5:132579425..132579434 [GRCh38]
Chr5:131915117..131915126 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1850G>C (p.Arg617Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472406] |
Chr5:132594925 [GRCh38]
Chr5:131930617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.255A>G (p.Gln85=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476129]|not provided [RCV003478014] |
Chr5:132575818 [GRCh38]
Chr5:131911510 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2001C>T (p.Ser667=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476192] |
Chr5:132595604 [GRCh38]
Chr5:131931296 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3554G>A (p.Arg1185Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457507] |
Chr5:132638159 [GRCh38]
Chr5:131973851 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719-8A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000457596] |
Chr5:132608607 [GRCh38]
Chr5:131944299 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000457701]|Nijmegen breakage syndrome-like disorder [RCV003388583] |
Chr5:132609296..132609300 [GRCh38]
Chr5:131944988..131944992 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.10:g.(?_132556924)_(132644621_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000461298] |
Chr5:132556924..132644621 [GRCh38]
Chr5:131892616..131980313 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2718+10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000461349]|not specified [RCV000781781] |
Chr5:132605009 [GRCh38]
Chr5:131940701 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2360T>G (p.Val787Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000461432] |
Chr5:132603452 [GRCh38]
Chr5:131939144 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3442C>T (p.Arg1148Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000461495]|not provided [RCV003237866] |
Chr5:132637167 [GRCh38]
Chr5:131972859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.781A>G (p.Asn261Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000465248] |
Chr5:132587586 [GRCh38]
Chr5:131923278 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2234A>G (p.Lys745Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000468795] |
Chr5:132603326 [GRCh38]
Chr5:131939018 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1412C>T (p.Ser471Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000468970] |
Chr5:132589797 [GRCh38]
Chr5:131925489 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3797T>G (p.Val1266Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472558] |
Chr5:132642222 [GRCh38]
Chr5:131977914 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.172C>T (p.Pro58Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472682] |
Chr5:132559326 [GRCh38]
Chr5:131895018 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3024T>A (p.Ile1008=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476372] |
Chr5:132609384 [GRCh38]
Chr5:131945076 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1165A>G (p.Ser389Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476433] |
Chr5:132588800 [GRCh38]
Chr5:131924492 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.393dup (p.Lys132Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000476454]|Nijmegen breakage syndrome-like disorder [RCV004568012] |
Chr5:132579343..132579344 [GRCh38]
Chr5:131915035..131915036 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476503]|Nijmegen breakage syndrome-like disorder [RCV002257710] |
Chr5:132603409 [GRCh38]
Chr5:131939101 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476546]|Nijmegen breakage syndrome-like disorder [RCV003463903]|RAD50-related disorder [RCV004751537]|not provided [RCV003483622] |
Chr5:132587637 [GRCh38]
Chr5:131923329 [GRCh37]
Chr5:5q31.1 |
pathogenic|not provided |
| NM_005732.4(RAD50):c.3370_3373del (p.Tyr1124fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000476558] |
Chr5:132618271..132618274 [GRCh38]
Chr5:131953963..131953966 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3475+10A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000465476]|not provided [RCV003478017] |
Chr5:132637210 [GRCh38]
Chr5:131972902 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1696C>A (p.Leu566Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476741] |
Chr5:132591937 [GRCh38]
Chr5:131927629 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.399T>C (p.Cys133=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000476766] |
Chr5:132579350 [GRCh38]
Chr5:131915042 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458110]|Nijmegen breakage syndrome-like disorder [RCV002257711] |
Chr5:132591255 [GRCh38]
Chr5:131926947 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2548C>A (p.Arg850Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000472999] |
Chr5:132604829 [GRCh38]
Chr5:131940521 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2233A>G (p.Lys745Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000473032] |
Chr5:132603325 [GRCh38]
Chr5:131939017 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1294A>G (p.Ile432Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000473122]|Nijmegen breakage syndrome-like disorder [RCV005033982] |
Chr5:132589679 [GRCh38]
Chr5:131925371 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2147A>C (p.Glu716Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458179] |
Chr5:132595750 [GRCh38]
Chr5:131931442 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458199]|Nijmegen breakage syndrome-like disorder [RCV002257748]|not specified [RCV003479133] |
Chr5:132559274 [GRCh38]
Chr5:131894966 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458297]|Nijmegen breakage syndrome-like disorder [RCV001782940]|not provided [RCV004999452] |
Chr5:132603989 [GRCh38]
Chr5:131939681 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2765T>C (p.Phe922Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458329] |
Chr5:132608661 [GRCh38]
Chr5:131944353 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3463T>G (p.Tyr1155Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000462045] |
Chr5:132637188 [GRCh38]
Chr5:131972880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.677A>G (p.Gln226Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000473398] |
Chr5:132579987 [GRCh38]
Chr5:131915679 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3354C>A (p.Asn1118Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000477050] |
Chr5:132618259 [GRCh38]
Chr5:131953951 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3442C>A (p.Arg1148Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000477060] |
Chr5:132637167 [GRCh38]
Chr5:131972859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3374A>G (p.Tyr1125Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458613] |
Chr5:132618279 [GRCh38]
Chr5:131953971 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2379A>G (p.Thr793=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000466172] |
Chr5:132603471 [GRCh38]
Chr5:131939163 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV000469803]|Nijmegen breakage syndrome-like disorder [RCV003463902]|RAD50-related disorder [RCV004751535] |
Chr5:132595768..132595769 [GRCh38]
Chr5:131931460..131931461 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1794-8del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001438972] |
Chr5:132594860 [GRCh38]
Chr5:131930552 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2771A>G (p.Gln924Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000473591] |
Chr5:132608667 [GRCh38]
Chr5:131944359 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.552-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000458636]|Nijmegen breakage syndrome-like disorder [RCV002257712] |
Chr5:132579860 [GRCh38]
Chr5:131915552 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.757-8A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000462527] |
Chr5:132587554 [GRCh38]
Chr5:131923246 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.577C>T (p.Arg193Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000462685]|Nijmegen breakage syndrome-like disorder [RCV005033981] |
Chr5:132579887 [GRCh38]
Chr5:131915579 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1868C>T (p.Ser623Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000469930]|RAD50-related disorder [RCV003401475] |
Chr5:132594943 [GRCh38]
Chr5:131930635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.825G>A (p.Leu275=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000473899] |
Chr5:132587630 [GRCh38]
Chr5:131923322 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.857A>G (p.Asn286Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568427] |
Chr5:132587662 [GRCh38]
Chr5:131923354 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005732.4(RAD50):c.352A>G (p.Ile118Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000554612] |
Chr5:132575915 [GRCh38]
Chr5:131911607 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000548794] |
Chr5:132616030..132616033 [GRCh38]
Chr5:131951722..131951725 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3340A>G (p.Thr1114Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561179] |
Chr5:132618245 [GRCh38]
Chr5:131953937 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2397G>A (p.Gln799=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569452] |
Chr5:132603489 [GRCh38]
Chr5:131939181 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2172G>A (p.Lys724=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000555702] |
Chr5:132595775 [GRCh38]
Chr5:131931467 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3554G>C (p.Arg1185Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574989] |
Chr5:132638159 [GRCh38]
Chr5:131973851 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.908A>G (p.Gln303Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569714] |
Chr5:132587946 [GRCh38]
Chr5:131923638 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572579] |
Chr5:132616133 [GRCh38]
Chr5:131951825 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1066C>G (p.Gln356Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572610] |
Chr5:132588701 [GRCh38]
Chr5:131924393 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3182A>T (p.Glu1061Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572642] |
Chr5:132618087 [GRCh38]
Chr5:131953779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2700T>G (p.Ser900=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560790] |
Chr5:132604981 [GRCh38]
Chr5:131940673 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2804C>T (p.Thr935Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575189] |
Chr5:132608700 [GRCh38]
Chr5:131944392 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3651G>C (p.Leu1217=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575215] |
Chr5:132640704 [GRCh38]
Chr5:131976396 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.334A>G (p.Lys112Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575281] |
Chr5:132575897 [GRCh38]
Chr5:131911589 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3591G>A (p.Met1197Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575309] |
Chr5:132638196 [GRCh38]
Chr5:131973888 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1311T>G (p.Thr437=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575322] |
Chr5:132589696 [GRCh38]
Chr5:131925388 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3462C>T (p.Thr1154=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575415] |
Chr5:132637187 [GRCh38]
Chr5:131972879 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1238A>C (p.Gln413Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575463] |
Chr5:132588873 [GRCh38]
Chr5:131924565 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.499A>G (p.Ser167Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000556746] |
Chr5:132579450 [GRCh38]
Chr5:131915142 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.622A>G (p.Met208Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570162] |
Chr5:132579932 [GRCh38]
Chr5:131915624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2074G>C (p.Ala692Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573028] |
Chr5:132595677 [GRCh38]
Chr5:131931369 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2594G>T (p.Ser865Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575525] |
Chr5:132604875 [GRCh38]
Chr5:131940567 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1568A>G (p.Gln523Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575551] |
Chr5:132591339 [GRCh38]
Chr5:131927031 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3519A>G (p.Val1173=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575657] |
Chr5:132638124 [GRCh38]
Chr5:131973816 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.567A>G (p.Leu189=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575667] |
Chr5:132579877 [GRCh38]
Chr5:131915569 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3745C>T (p.Leu1249=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000527336]|not provided [RCV005000132] |
Chr5:132640798 [GRCh38]
Chr5:131976490 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.47G>A (p.Gly16Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565137] |
Chr5:132557371 [GRCh38]
Chr5:131893063 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000557088] |
Chr5:132608606 [GRCh38]
Chr5:131944298 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000570382] |
Chr5:132588038..132588041 [GRCh38]
Chr5:131923730..131923733 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.317G>C (p.Ser106Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570431] |
Chr5:132575880 [GRCh38]
Chr5:131911572 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3874A>G (p.Asn1292Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573173] |
Chr5:132642299 [GRCh38]
Chr5:131977991 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2016G>A (p.Gln672=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573229] |
Chr5:132595619 [GRCh38]
Chr5:131931311 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2187G>T (p.Met729Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575738] |
Chr5:132595790 [GRCh38]
Chr5:131931482 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3405T>C (p.Phe1135=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575747] |
Chr5:132637130 [GRCh38]
Chr5:131972822 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3179T>G (p.Leu1060Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575767] |
Chr5:132618084 [GRCh38]
Chr5:131953776 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1867T>C (p.Ser623Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575823] |
Chr5:132594942 [GRCh38]
Chr5:131930634 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1258G>A (p.Glu420Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575826] |
Chr5:132589643 [GRCh38]
Chr5:131925335 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3456A>T (p.Arg1152=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575892] |
Chr5:132637181 [GRCh38]
Chr5:131972873 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3127A>G (p.Lys1043Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575913] |
Chr5:132616093 [GRCh38]
Chr5:131951785 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3421GAA[1] (p.Glu1142del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000575952] |
Chr5:132637146..132637148 [GRCh38]
Chr5:131972838..131972840 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2509C>T (p.His837Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570613] |
Chr5:132604031 [GRCh38]
Chr5:131939723 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+3A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575998] |
Chr5:132591409 [GRCh38]
Chr5:131927101 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3304G>A (p.Glu1102Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000557870] |
Chr5:132618209 [GRCh38]
Chr5:131953901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.897G>A (p.Gly299=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302125] |
Chr5:132587935 [GRCh38]
Chr5:131923627 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3806A>C (p.His1269Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302126] |
Chr5:132642231 [GRCh38]
Chr5:131977923 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1879G>A (p.Asp627Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302134] |
Chr5:132594954 [GRCh38]
Chr5:131930646 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3793C>G (p.Leu1265Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302136] |
Chr5:132642218 [GRCh38]
Chr5:131977910 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1768A>T (p.Thr590Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302137] |
Chr5:132592009 [GRCh38]
Chr5:131927701 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.845T>C (p.Met282Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302138] |
Chr5:132587650 [GRCh38]
Chr5:131923342 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.873G>T (p.Glu291Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570904] |
Chr5:132587678 [GRCh38]
Chr5:131923370 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1576G>A (p.Glu526Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573726] |
Chr5:132591347 [GRCh38]
Chr5:131927039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2303T>C (p.Ile768Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571038] |
Chr5:132603395 [GRCh38]
Chr5:131939087 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1024G>C (p.Glu342Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571108]|Nijmegen breakage syndrome-like disorder [RCV004569162] |
Chr5:132588062 [GRCh38]
Chr5:131923754 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1245+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000540035] |
Chr5:132588884 [GRCh38]
Chr5:131924576 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2190G>C (p.Leu730=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300651] |
Chr5:132595793 [GRCh38]
Chr5:131931485 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2732A>G (p.Gln911Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571210] |
Chr5:132608628 [GRCh38]
Chr5:131944320 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3414G>A (p.Met1138Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571220] |
Chr5:132637139 [GRCh38]
Chr5:131972831 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.841C>A (p.Gln281Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571265] |
Chr5:132587646 [GRCh38]
Chr5:131923338 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.832C>A (p.Arg278=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573967] |
Chr5:132587637 [GRCh38]
Chr5:131923329 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.303G>A (p.Val101=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018249] |
Chr5:132575866 [GRCh38]
Chr5:131911558 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.802C>T (p.Leu268Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571455] |
Chr5:132587607 [GRCh38]
Chr5:131923299 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3921G>C (p.Leu1307=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000558876] |
Chr5:132642346 [GRCh38]
Chr5:131978038 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3605G>C (p.Ser1202Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574051] |
Chr5:132638210 [GRCh38]
Chr5:131973902 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3005G>A (p.Arg1002Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000559095] |
Chr5:132609365 [GRCh38]
Chr5:131945057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.478G>A (p.Glu160Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571734] |
Chr5:132579429 [GRCh38]
Chr5:131915121 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3390-9C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000536879] |
Chr5:132637106 [GRCh38]
Chr5:131972798 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3353del (p.Asn1118fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000559378]|Nijmegen breakage syndrome-like disorder [RCV003470723] |
Chr5:132618257 [GRCh38]
Chr5:131953949 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2950A>G (p.Ile984Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000559437] |
Chr5:132609310 [GRCh38]
Chr5:131945002 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1760T>G (p.Ile587Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571841] |
Chr5:132592001 [GRCh38]
Chr5:131927693 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574322]|Nijmegen breakage syndrome-like disorder [RCV005034129] |
Chr5:132603355 [GRCh38]
Chr5:131939047 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3654T>A (p.Ala1218=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293388] |
Chr5:132640707 [GRCh38]
Chr5:131976399 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.383G>A (p.Ser128Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632196] |
Chr5:132579334 [GRCh38]
Chr5:131915026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.365+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632197] |
Chr5:132575933 [GRCh38]
Chr5:131911625 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.410A>G (p.Asp137Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632203] |
Chr5:132579361 [GRCh38]
Chr5:131915053 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632206] |
Chr5:132559281 [GRCh38]
Chr5:131894973 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1973T>C (p.Met658Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632209] |
Chr5:132595576 [GRCh38]
Chr5:131931268 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1285A>G (p.Ile429Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632211] |
Chr5:132589670 [GRCh38]
Chr5:131925362 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1505T>C (p.Met502Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632219] |
Chr5:132591276 [GRCh38]
Chr5:131926968 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2896C>A (p.Gln966Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632226] |
Chr5:132609183 [GRCh38]
Chr5:131944875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3611G>A (p.Gly1204Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632231]|not provided [RCV005000404] |
Chr5:132638216 [GRCh38]
Chr5:131973908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3277dup (p.Arg1093fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000632234] |
Chr5:132618181..132618182 [GRCh38]
Chr5:131953873..131953874 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3460A>C (p.Thr1154Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632235] |
Chr5:132637185 [GRCh38]
Chr5:131972877 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2297A>G (p.Asn766Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632240] |
Chr5:132603389 [GRCh38]
Chr5:131939081 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.168T>C (p.Asp56=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012746] |
Chr5:132559322 [GRCh38]
Chr5:131895014 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1959A>C (p.Ser653=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632257] |
Chr5:132595034 [GRCh38]
Chr5:131930726 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1920T>C (p.Ser640=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632253] |
Chr5:132594995 [GRCh38]
Chr5:131930687 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3481G>A (p.Glu1161Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571989] |
Chr5:132638086 [GRCh38]
Chr5:131973778 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.59A>G (p.Lys20Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572025] |
Chr5:132557383 [GRCh38]
Chr5:131893075 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2582A>G (p.Gln861Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572038] |
Chr5:132604863 [GRCh38]
Chr5:131940555 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1351A>C (p.Ser451Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574457] |
Chr5:132589736 [GRCh38]
Chr5:131925428 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1023G>C (p.Gln341His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000559901] |
Chr5:132588061 [GRCh38]
Chr5:131923753 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2817A>G (p.Ile939Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572153] |
Chr5:132608713 [GRCh38]
Chr5:131944405 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1736G>A (p.Trp579Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572187] |
Chr5:132591977 [GRCh38]
Chr5:131927669 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2438C>T (p.Ala813Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572227] |
Chr5:132603960 [GRCh38]
Chr5:131939652 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.648del (p.Gln215_Tyr216insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000574630] |
Chr5:132579958 [GRCh38]
Chr5:131915650 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3813A>G (p.Glu1271=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000541286] |
Chr5:132642238 [GRCh38]
Chr5:131977930 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+9C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000533128] |
Chr5:132592043 [GRCh38]
Chr5:131927735 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.260G>T (p.Arg87Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572264]|Nijmegen breakage syndrome-like disorder [RCV003459333] |
Chr5:132575823 [GRCh38]
Chr5:131911515 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572292]|Nijmegen breakage syndrome-like disorder [RCV003465273] |
Chr5:132638197 [GRCh38]
Chr5:131973889 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2332A>G (p.Ile778Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572346] |
Chr5:132603424 [GRCh38]
Chr5:131939116 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3765T>C (p.Ser1255=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572405] |
Chr5:132642190 [GRCh38]
Chr5:131977882 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2878G>C (p.Asp960His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574859] |
Chr5:132609165 [GRCh38]
Chr5:131944857 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2696A>G (p.Gln899Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570069] |
Chr5:132604977 [GRCh38]
Chr5:131940669 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2076T>A (p.Ala692=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570158] |
Chr5:132595679 [GRCh38]
Chr5:131931371 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3839del (p.Ser1280fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003302122] |
Chr5:132642264 [GRCh38]
Chr5:131977956 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3818T>C (p.Phe1273Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302123] |
Chr5:132642243 [GRCh38]
Chr5:131977935 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2226G>T (p.Leu742Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302124] |
Chr5:132603318 [GRCh38]
Chr5:131939010 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1069G>A (p.Ala357Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302129] |
Chr5:132588704 [GRCh38]
Chr5:131924396 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2134C>T (p.Leu712Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302130] |
Chr5:132595737 [GRCh38]
Chr5:131931429 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3459T>C (p.Ser1153=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302131] |
Chr5:132637184 [GRCh38]
Chr5:131972876 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.173C>G (p.Pro58Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302132] |
Chr5:132559327 [GRCh38]
Chr5:131895019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.350T>A (p.Val117Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570388] |
Chr5:132575913 [GRCh38]
Chr5:131911605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.355A>G (p.Thr119Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632191] |
Chr5:132575918 [GRCh38]
Chr5:131911610 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.827A>G (p.Asp276Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632198] |
Chr5:132587632 [GRCh38]
Chr5:131923324 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1189C>T (p.His397Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632200] |
Chr5:132588824 [GRCh38]
Chr5:131924516 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3636C>G (p.Ile1212Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632201] |
Chr5:132640689 [GRCh38]
Chr5:131976381 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2489A>G (p.Gln830Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632212] |
Chr5:132604011 [GRCh38]
Chr5:131939703 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632216]|Nijmegen breakage syndrome-like disorder [RCV000987598] |
Chr5:132588750 [GRCh38]
Chr5:131924442 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.170T>C (p.Phe57Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632220] |
Chr5:132559324 [GRCh38]
Chr5:131895016 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000632222] |
Chr5:132637162..132637163 [GRCh38]
Chr5:131972854..131972855 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1160C>T (p.Pro387Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632223] |
Chr5:132588795 [GRCh38]
Chr5:131924487 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3380C>T (p.Thr1127Ile) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030510]|Hereditary cancer-predisposing syndrome [RCV000632236] |
Chr5:132618285 [GRCh38]
Chr5:131953977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3727G>A (p.Glu1243Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632242] |
Chr5:132640780 [GRCh38]
Chr5:131976472 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3181G>A (p.Glu1061Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632243] |
Chr5:132618086 [GRCh38]
Chr5:131953778 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632244]|Nijmegen breakage syndrome-like disorder [RCV003459503] |
Chr5:132557454 [GRCh38]
Chr5:131893146 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2655G>A (p.Gln885=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632246]|not specified [RCV002282273] |
Chr5:132604936 [GRCh38]
Chr5:131940628 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2472T>G (p.Thr824=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632269]|not specified [RCV000781779] |
Chr5:132603994 [GRCh38]
Chr5:131939686 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3438T>C (p.Ile1146=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632268] |
Chr5:132637163 [GRCh38]
Chr5:131972855 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3108A>G (p.Glu1036=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632264] |
Chr5:132616074 [GRCh38]
Chr5:131951766 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1962A>G (p.Lys654=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632263] |
Chr5:132595037 [GRCh38]
Chr5:131930729 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.756+7T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632260] |
Chr5:132580073 [GRCh38]
Chr5:131915765 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+10T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632259] |
Chr5:132575938 [GRCh38]
Chr5:131911630 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.103G>C (p.Val35Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570403] |
Chr5:132557427 [GRCh38]
Chr5:131893119 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1287A>G (p.Ile429Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560978]|Nijmegen breakage syndrome-like disorder [RCV003459368]|not specified [RCV001264575] |
Chr5:132589672 [GRCh38]
Chr5:131925364 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3476-7G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000553134] |
Chr5:132638074 [GRCh38]
Chr5:131973766 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3302A>G (p.Glu1101Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000532998] |
Chr5:132618207 [GRCh38]
Chr5:131953899 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.779A>G (p.His260Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632195] |
Chr5:132587584 [GRCh38]
Chr5:131923276 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1652A>G (p.Gln551Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632204] |
Chr5:132591893 [GRCh38]
Chr5:131927585 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2054dup (p.Arg686fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000632207] |
Chr5:132595656..132595657 [GRCh38]
Chr5:131931348..131931349 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.239C>T (p.Ala80Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632208] |
Chr5:132575802 [GRCh38]
Chr5:131911494 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2413G>C (p.Val805Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632210] |
Chr5:132603935 [GRCh38]
Chr5:131939627 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2360T>C (p.Val787Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632218] |
Chr5:132603452 [GRCh38]
Chr5:131939144 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632224] |
Chr5:132591875 [GRCh38]
Chr5:131927567 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.5C>T (p.Ser2Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632227] |
Chr5:132557329 [GRCh38]
Chr5:131893021 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2922+6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632229] |
Chr5:132609215 [GRCh38]
Chr5:131944907 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.916G>T (p.Asp306Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632230] |
Chr5:132587954 [GRCh38]
Chr5:131923646 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2180A>C (p.Asp727Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632232] |
Chr5:132595783 [GRCh38]
Chr5:131931475 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.8G>T (p.Arg3Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632233] |
Chr5:132557332 [GRCh38]
Chr5:131893024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3148G>A (p.Val1050Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632238] |
Chr5:132616114 [GRCh38]
Chr5:131951806 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln) |
single nucleotide variant |
Familial cancer of breast [RCV003243223]|Hereditary cancer-predisposing syndrome [RCV000632245]|Nijmegen breakage syndrome-like disorder [RCV003459504] |
Chr5:132638144 [GRCh38]
Chr5:131973836 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.514T>C (p.Leu172=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632248] |
Chr5:132579465 [GRCh38]
Chr5:131915157 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2457A>T (p.Ile819=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632270] |
Chr5:132603979 [GRCh38]
Chr5:131939671 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2017C>T (p.Leu673=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632265] |
Chr5:132595620 [GRCh38]
Chr5:131931312 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.945A>G (p.Val315=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632256] |
Chr5:132587983 [GRCh38]
Chr5:131923675 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3351G>C (p.Val1117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632255] |
Chr5:132618256 [GRCh38]
Chr5:131953948 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.210C>T (p.Pro70=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632252] |
Chr5:132559364 [GRCh38]
Chr5:131895056 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+8A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632251] |
Chr5:132604054 [GRCh38]
Chr5:131939746 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632250]|not provided [RCV005000405] |
Chr5:132595818 [GRCh38]
Chr5:131931510 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2004G>C (p.Gln668His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000536817] |
Chr5:132595607 [GRCh38]
Chr5:131931299 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1423C>T (p.Leu475Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300646] |
Chr5:132589808 [GRCh38]
Chr5:131925500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2416G>A (p.Glu806Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293395] |
Chr5:132603938 [GRCh38]
Chr5:131939630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3728A>T (p.Glu1243Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569379] |
Chr5:132640781 [GRCh38]
Chr5:131976473 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.621A>G (p.Gln207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000533409] |
Chr5:132579931 [GRCh38]
Chr5:131915623 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.53A>G (p.Glu18Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569659]|not provided [RCV004722931] |
Chr5:132557377 [GRCh38]
Chr5:131893069 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1909G>A (p.Asp637Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571673] |
Chr5:132594984 [GRCh38]
Chr5:131930676 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2270T>C (p.Val757Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571684] |
Chr5:132603362 [GRCh38]
Chr5:131939054 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1295_1299del (p.Ile432fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000540486] |
Chr5:132589677..132589681 [GRCh38]
Chr5:131925369..131925373 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1851_1854del (p.Glu619fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000574201] |
Chr5:132594922..132594925 [GRCh38]
Chr5:131930614..131930617 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3437T>C (p.Ile1146Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574213]|Nijmegen breakage syndrome-like disorder [RCV003470840] |
Chr5:132637162 [GRCh38]
Chr5:131972854 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+8C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000540645] |
Chr5:132637208 [GRCh38]
Chr5:131972900 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.643C>G (p.Gln215Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632192] |
Chr5:132579953 [GRCh38]
Chr5:131915645 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2674G>A (p.Val892Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632193] |
Chr5:132604955 [GRCh38]
Chr5:131940647 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.725A>G (p.Lys242Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632199] |
Chr5:132580035 [GRCh38]
Chr5:131915727 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.337A>G (p.Thr113Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632213] |
Chr5:132575900 [GRCh38]
Chr5:131911592 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3464A>G (p.Tyr1155Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632215] |
Chr5:132637189 [GRCh38]
Chr5:131972881 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.998A>G (p.Asn333Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632217] |
Chr5:132588036 [GRCh38]
Chr5:131923728 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2086G>T (p.Glu696Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632239] |
Chr5:132595689 [GRCh38]
Chr5:131931381 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3294G>A (p.Arg1098=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001448782] |
Chr5:132618199 [GRCh38]
Chr5:131953891 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1554G>A (p.Leu518=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632249] |
Chr5:132591325 [GRCh38]
Chr5:131927017 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000632261] |
Chr5:132609273 [GRCh38]
Chr5:131944965 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1671T>C (p.Ser557=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632254] |
Chr5:132591912 [GRCh38]
Chr5:131927604 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2038T>A (p.Cys680Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571935] |
Chr5:132595641 [GRCh38]
Chr5:131931333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.692A>T (p.Glu231Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572142] |
Chr5:132580002 [GRCh38]
Chr5:131915694 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3801C>T (p.Ile1267=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568837] |
Chr5:132642226 [GRCh38]
Chr5:131977918 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1801C>A (p.Leu601Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569368] |
Chr5:132594876 [GRCh38]
Chr5:131930568 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1173A>T (p.Arg391Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569375] |
Chr5:132588808 [GRCh38]
Chr5:131924500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3813_3815del (p.Glu1271del) |
deletion |
Hereditary breast ovarian cancer syndrome [RCV001030513]|Hereditary cancer-predisposing syndrome [RCV000569401]|Nijmegen breakage syndrome-like disorder [RCV003465207] |
Chr5:132642236..132642238 [GRCh38]
Chr5:131977928..131977930 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1632C>G (p.Asp544Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572357] |
Chr5:132591403 [GRCh38]
Chr5:131927095 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2734del (p.Gln911_Val912insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000537787] |
Chr5:132608629 [GRCh38]
Chr5:131944321 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.87C>T (p.Ser29=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569590] |
Chr5:132557411 [GRCh38]
Chr5:131893103 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.286G>C (p.Val96Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000533486] |
Chr5:132575849 [GRCh38]
Chr5:131911541 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.54G>A (p.Glu18=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569834] |
Chr5:132557378 [GRCh38]
Chr5:131893070 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2248T>C (p.Leu750=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569859] |
Chr5:132603340 [GRCh38]
Chr5:131939032 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2214C>T (p.Ser738=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572637] |
Chr5:132603306 [GRCh38]
Chr5:131938998 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1898G>T (p.Cys633Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000534115] |
Chr5:132594973 [GRCh38]
Chr5:131930665 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1202G>C (p.Arg401Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000534257] |
Chr5:132588837 [GRCh38]
Chr5:131924529 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3476del (p.Asp1159fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000572930]|Nijmegen breakage syndrome-like disorder [RCV003465208] |
Chr5:132638081 [GRCh38]
Chr5:131973773 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3426A>C (p.Glu1142Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572966] |
Chr5:132637151 [GRCh38]
Chr5:131972843 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2780A>C (p.Glu927Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570361]|Nijmegen breakage syndrome-like disorder [RCV003465209] |
Chr5:132608676 [GRCh38]
Chr5:131944368 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1401G>A (p.Leu467=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000557185] |
Chr5:132589786 [GRCh38]
Chr5:131925478 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.579G>A (p.Arg193=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000538823]|not provided [RCV003478132] |
Chr5:132579889 [GRCh38]
Chr5:131915581 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1133T>C (p.Leu378Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570423] |
Chr5:132588768 [GRCh38]
Chr5:131924460 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3046A>T (p.Arg1016Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573237] |
Chr5:132616012 [GRCh38]
Chr5:131951704 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2436A>G (p.Gln812=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570852] |
Chr5:132603958 [GRCh38]
Chr5:131939650 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.462C>T (p.Val154=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570869] |
Chr5:132579413 [GRCh38]
Chr5:131915105 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.734A>C (p.Glu245Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000558050] |
Chr5:132580044 [GRCh38]
Chr5:131915736 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.757-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000535603] |
Chr5:132587561 [GRCh38]
Chr5:131923253 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|uncertain significance |
| NM_005732.4(RAD50):c.2708G>A (p.Arg903Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573484] |
Chr5:132604989 [GRCh38]
Chr5:131940681 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1631_1635+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000573500]|Nijmegen breakage syndrome-like disorder [RCV001783068] |
Chr5:132591397..132591402 [GRCh38]
Chr5:131927089..131927094 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571115]|Nijmegen breakage syndrome-like disorder [RCV000764578]|not provided [RCV003478219] |
Chr5:132591351 [GRCh38]
Chr5:131927043 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.638T>C (p.Leu213Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000539563] |
Chr5:132579948 [GRCh38]
Chr5:131915640 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3753-3C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573573]|Nijmegen breakage syndrome-like disorder [RCV004569133] |
Chr5:132642175 [GRCh38]
Chr5:131977867 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2703G>C (p.Leu901Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573635] |
Chr5:132604984 [GRCh38]
Chr5:131940676 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3898G>A (p.Val1300Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573661]|Nijmegen breakage syndrome-like disorder [RCV003459302] |
Chr5:132642323 [GRCh38]
Chr5:131978015 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3639del (p.Arg1214fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000558439] |
Chr5:132640691 [GRCh38]
Chr5:131976383 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3753-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000539798]|Nijmegen breakage syndrome-like disorder [RCV003459187] |
Chr5:132642177 [GRCh38]
Chr5:131977869 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1165A>T (p.Ser389Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571518] |
Chr5:132588800 [GRCh38]
Chr5:131924492 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2917AAG[1] (p.Lys974del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000632190] |
Chr5:132609204..132609206 [GRCh38]
Chr5:131944896..131944898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3412A>C (p.Met1138Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632194] |
Chr5:132637137 [GRCh38]
Chr5:131972829 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1432_1433dup (p.Asp478fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000632202] |
Chr5:132589816..132589817 [GRCh38]
Chr5:131925508..131925509 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2929G>T (p.Glu977Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632205] |
Chr5:132609289 [GRCh38]
Chr5:131944981 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.505G>A (p.Gly169Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632214] |
Chr5:132579456 [GRCh38]
Chr5:131915148 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1850del (p.Arg617fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000632221] |
Chr5:132594925 [GRCh38]
Chr5:131930617 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1725G>T (p.Gln575His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632225] |
Chr5:132591966 [GRCh38]
Chr5:131927658 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3049T>C (p.Trp1017Arg) |
single nucleotide variant |
Familial cancer of breast [RCV004597838]|Hereditary cancer-predisposing syndrome [RCV000632228] |
Chr5:132616015 [GRCh38]
Chr5:131951707 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.512C>T (p.Ala171Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632237] |
Chr5:132579463 [GRCh38]
Chr5:131915155 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1607C>G (p.Thr536Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632241] |
Chr5:132591378 [GRCh38]
Chr5:131927070 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632266] |
Chr5:132609403 [GRCh38]
Chr5:131945095 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.909A>G (p.Gln303=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000632262] |
Chr5:132587947 [GRCh38]
Chr5:131923639 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2811C>T (p.Asn937=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001412153] |
Chr5:132608707 [GRCh38]
Chr5:131944399 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2801del (p.Asn934fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000567649] |
Chr5:132608690 [GRCh38]
Chr5:131944382 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.319A>C (p.Lys107Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000699188] |
Chr5:132575882 [GRCh38]
Chr5:131911574 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3690G>A (p.Leu1230=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686072]|not provided [RCV003478402] |
Chr5:132640743 [GRCh38]
Chr5:131976435 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2628G>C (p.Gln876His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686867] |
Chr5:132604909 [GRCh38]
Chr5:131940601 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3103GAA[2] (p.Glu1037del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000698419] |
Chr5:132616069..132616071 [GRCh38]
Chr5:131951761..131951763 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1271_1272del (p.Leu424fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000698856] |
Chr5:132589656..132589657 [GRCh38]
Chr5:131925348..131925349 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3164+14del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002060793]|Nijmegen breakage syndrome-like disorder [RCV000662579] |
Chr5:132616141 [GRCh38]
Chr5:131951833 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.1052-16del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002060792]|Nijmegen breakage syndrome-like disorder [RCV000662373] |
Chr5:132588671 [GRCh38]
Chr5:131924363 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.183del (p.Gly63fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV000663161] |
Chr5:132559336 [GRCh38]
Chr5:131895028 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000811772]|Nijmegen breakage syndrome-like disorder [RCV000663306] |
Chr5:132603952..132603954 [GRCh38]
Chr5:131939644..131939646 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-7T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001491882]|Nijmegen breakage syndrome-like disorder [RCV000662886] |
Chr5:132609276 [GRCh38]
Chr5:131944968 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+7G>A |
single nucleotide variant |
not provided [RCV000659026] |
Chr5:132575935 [GRCh38]
Chr5:131911627 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3079A>G (p.Arg1027Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685433] |
Chr5:132616045 [GRCh38]
Chr5:131951737 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002060800]|Nijmegen breakage syndrome-like disorder [RCV000663170] |
Chr5:132589620 [GRCh38]
Chr5:131925312 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1291G>A (p.Glu431Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685983] |
Chr5:132589676 [GRCh38]
Chr5:131925368 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.333T>G (p.Phe111Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700415] |
Chr5:132575896 [GRCh38]
Chr5:131911588 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1712C>G (p.Pro571Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685968] |
Chr5:132591953 [GRCh38]
Chr5:131927645 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.393_394insTT (p.Lys132fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV000698438] |
Chr5:132579343..132579344 [GRCh38]
Chr5:131915035..131915036 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1093C>G (p.Arg365Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685670] |
Chr5:132588728 [GRCh38]
Chr5:131924420 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.396G>C (p.Lys132Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700561] |
Chr5:132579347 [GRCh38]
Chr5:131915039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3 |
copy number gain |
Blepharophimosis [RCV000677199] |
Chr5:131484039..132998360 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.927C>G (p.His309Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686785] |
Chr5:132587965 [GRCh38]
Chr5:131923657 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) |
duplication |
Familial cancer of breast [RCV003315440]|Hereditary cancer-predisposing syndrome [RCV000687296]|Nijmegen breakage syndrome-like disorder [RCV000984943] |
Chr5:132579402..132579403 [GRCh38]
Chr5:131915094..131915095 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1106C>G (p.Ser369Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000701914] |
Chr5:132588741 [GRCh38]
Chr5:131924433 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1011G>C (p.Arg337Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000687768] |
Chr5:132588049 [GRCh38]
Chr5:131923741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3886T>A (p.Cys1296Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000687820]|Nijmegen breakage syndrome-like disorder [RCV003465563] |
Chr5:132642311 [GRCh38]
Chr5:131978003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2337G>T (p.Met779Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702477] |
Chr5:132603429 [GRCh38]
Chr5:131939121 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3548A>G (p.Asn1183Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702621] |
Chr5:132638153 [GRCh38]
Chr5:131973845 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.852A>C (p.Lys284Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688528] |
Chr5:132587657 [GRCh38]
Chr5:131923349 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3199A>G (p.Ile1067Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688587] |
Chr5:132618104 [GRCh38]
Chr5:131953796 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3410G>T (p.Ser1137Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688622] |
Chr5:132637135 [GRCh38]
Chr5:131972827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.73A>G (p.Ile25Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000699757] |
Chr5:132557397 [GRCh38]
Chr5:131893089 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.875A>C (p.Lys292Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685476] |
Chr5:132587680 [GRCh38]
Chr5:131923372 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2851G>C (p.Val951Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700213] |
Chr5:132609138 [GRCh38]
Chr5:131944830 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2882T>C (p.Ile961Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700584] |
Chr5:132609169 [GRCh38]
Chr5:131944861 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2384T>C (p.Met795Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000701270] |
Chr5:132603476 [GRCh38]
Chr5:131939168 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2771A>T (p.Gln924Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000701510] |
Chr5:132608667 [GRCh38]
Chr5:131944359 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.647A>G (p.Tyr216Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000701155] |
Chr5:132579957 [GRCh38]
Chr5:131915649 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131972797)_(131976507_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000708445] |
Chr5:132637105..132640815 [GRCh38]
Chr5:131972797..131976507 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3779_3791dup (p.Leu1264_Leu1265insTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000708627]|Nijmegen breakage syndrome-like disorder [RCV003465643] |
Chr5:132642203..132642204 [GRCh38]
Chr5:131977895..131977896 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1245+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010527]|Nijmegen breakage syndrome-like disorder [RCV005034327]|not provided [RCV000708624] |
Chr5:132588881 [GRCh38]
Chr5:131924573 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1145G>C (p.Gly382Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000687113] |
Chr5:132588780 [GRCh38]
Chr5:131924472 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3692A>G (p.Asp1231Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000701543] |
Chr5:132640745 [GRCh38]
Chr5:131976437 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2672C>T (p.Thr891Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000704227] |
Chr5:132604953 [GRCh38]
Chr5:131940645 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2117G>A (p.Arg706Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000690042] |
Chr5:132595720 [GRCh38]
Chr5:131931412 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.848A>G (p.Glu283Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000692845] |
Chr5:132587653 [GRCh38]
Chr5:131923345 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1456C>A (p.Arg486Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000707107] |
Chr5:132591227 [GRCh38]
Chr5:131926919 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2084A>G (p.Gln695Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694829] |
Chr5:132595687 [GRCh38]
Chr5:131931379 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3776A>G (p.Gln1259Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000690360]|Nijmegen breakage syndrome-like disorder [RCV003459682] |
Chr5:132642201 [GRCh38]
Chr5:131977893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1648_1651dup (p.Gln551fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000707197] |
Chr5:132591888..132591889 [GRCh38]
Chr5:131927580..131927581 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1849_1853del (p.Arg617fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000707239] |
Chr5:132594921..132594925 [GRCh38]
Chr5:131930613..131930617 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.521A>G (p.Gln174Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694926] |
Chr5:132579472 [GRCh38]
Chr5:131915164 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2999A>G (p.Asp1000Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000695030] |
Chr5:132609359 [GRCh38]
Chr5:131945051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3791T>C (p.Leu1264Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702098] |
Chr5:132642216 [GRCh38]
Chr5:131977908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.171C>A (p.Phe57Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000693480] |
Chr5:132559325 [GRCh38]
Chr5:131895017 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.190A>C (p.Asn64His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000695114] |
Chr5:132559344 [GRCh38]
Chr5:131895036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.799A>G (p.Lys267Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702224] |
Chr5:132587604 [GRCh38]
Chr5:131923296 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1601C>T (p.Thr534Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000690747] |
Chr5:132591372 [GRCh38]
Chr5:131927064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3476-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000695264] |
Chr5:132638080 [GRCh38]
Chr5:131973772 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1631A>G (p.Asp544Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688067] |
Chr5:132591402 [GRCh38]
Chr5:131927094 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) |
deletion |
Hereditary breast ovarian cancer syndrome [RCV001174620]|Hereditary cancer-predisposing syndrome [RCV000693685] |
Chr5:132609294..132609295 [GRCh38]
Chr5:131944986..131944987 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.305G>A (p.Cys102Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000693705] |
Chr5:132575868 [GRCh38]
Chr5:131911560 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2593A>G (p.Ser865Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000693759] |
Chr5:132604874 [GRCh38]
Chr5:131940566 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.32G>A (p.Gly11Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702677] |
Chr5:132557356 [GRCh38]
Chr5:131893048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.699G>T (p.Gln233His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702868]|not specified [RCV002265865] |
Chr5:132580009 [GRCh38]
Chr5:131915701 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719-3T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000691525] |
Chr5:132608612 [GRCh38]
Chr5:131944304 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1178T>C (p.Ile393Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688804] |
Chr5:132588813 [GRCh38]
Chr5:131924505 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2497C>G (p.Gln833Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000697823] |
Chr5:132604019 [GRCh38]
Chr5:131939711 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3237A>C (p.Lys1079Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000689022] |
Chr5:132618142 [GRCh38]
Chr5:131953834 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3740A>G (p.His1247Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000689029]|Nijmegen breakage syndrome-like disorder [RCV002257929] |
Chr5:132640793 [GRCh38]
Chr5:131976485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3022A>G (p.Ile1008Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694195] |
Chr5:132609382 [GRCh38]
Chr5:131945074 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1389A>T (p.Glu463Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000689214] |
Chr5:132589774 [GRCh38]
Chr5:131925466 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3736G>A (p.Ala1246Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000699977] |
Chr5:132640789 [GRCh38]
Chr5:131976481 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3678C>T (p.Gly1226=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700066] |
Chr5:132640731 [GRCh38]
Chr5:131976423 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2468G>C (p.Arg823Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700204] |
Chr5:132603990 [GRCh38]
Chr5:131939682 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1368G>C (p.Glu456Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685666] |
Chr5:132589753 [GRCh38]
Chr5:131925445 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1646A>G (p.Asp549Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685694] |
Chr5:132591887 [GRCh38]
Chr5:131927579 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3467G>T (p.Arg1156Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706165] |
Chr5:132637192 [GRCh38]
Chr5:131972884 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3277C>G (p.Arg1093Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686336] |
Chr5:132618182 [GRCh38]
Chr5:131953874 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2012C>T (p.Thr671Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000703686] |
Chr5:132595615 [GRCh38]
Chr5:131931307 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1535C>G (p.Ala512Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700953] |
Chr5:132591306 [GRCh38]
Chr5:131926998 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2427T>G (p.Ile809Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706653] |
Chr5:132603949 [GRCh38]
Chr5:131939641 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2956C>T (p.Gln986Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000698020] |
Chr5:132609316 [GRCh38]
Chr5:131945008 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.756+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000698435] |
Chr5:132580070 [GRCh38]
Chr5:131915762 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1049A>G (p.Gln350Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000692342]|Nijmegen breakage syndrome-like disorder [RCV004569310] |
Chr5:132588087 [GRCh38]
Chr5:131923779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706414] |
Chr5:132588683 [GRCh38]
Chr5:131924375 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1723C>T (p.Gln575Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706426] |
Chr5:132591964 [GRCh38]
Chr5:131927656 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1635+6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706538] |
Chr5:132591412 [GRCh38]
Chr5:131927104 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004949879]|not provided [RCV000708626] |
Chr5:132616069 [GRCh38]
Chr5:131951761 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.129+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694672] |
Chr5:132557456 [GRCh38]
Chr5:131893148 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1429C>A (p.Leu477Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000708738] |
Chr5:132589814 [GRCh38]
Chr5:131925506 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3136G>A (p.Gly1046Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694761] |
Chr5:132616102 [GRCh38]
Chr5:131951794 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2386G>T (p.Glu796Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000697259] |
Chr5:132603478 [GRCh38]
Chr5:131939170 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2822A>G (p.Gln941Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000697314] |
Chr5:132608718 [GRCh38]
Chr5:131944410 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000703924] |
Chr5:132557459 [GRCh38]
Chr5:131893151 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3311A>G (p.Tyr1104Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706585]|Nijmegen breakage syndrome-like disorder [RCV003460985] |
Chr5:132618216 [GRCh38]
Chr5:131953908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1188dup (p.His397fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000697445] |
Chr5:132588819..132588820 [GRCh38]
Chr5:131924511..131924512 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.535A>G (p.Ile179Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706717]|not provided [RCV004997214]|not specified [RCV004586896] |
Chr5:132579486 [GRCh38]
Chr5:131915178 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.470G>C (p.Cys157Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694972] |
Chr5:132579421 [GRCh38]
Chr5:131915113 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.389G>C (p.Ser130Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000692900] |
Chr5:132579340 [GRCh38]
Chr5:131915032 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000692948] |
Chr5:132588095 [GRCh38]
Chr5:131923787 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2952A>G (p.Ile984Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702186] |
Chr5:132609312 [GRCh38]
Chr5:131945004 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3319A>T (p.Met1107Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000690181] |
Chr5:132618224 [GRCh38]
Chr5:131953916 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2235G>C (p.Lys745Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000704450] |
Chr5:132603327 [GRCh38]
Chr5:131939019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3916del (p.Ser1306fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000690281] |
Chr5:132642341 [GRCh38]
Chr5:131978033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.282del (p.Ile94fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000693112]|Nijmegen breakage syndrome-like disorder [RCV004569316] |
Chr5:132575845 [GRCh38]
Chr5:131911537 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.129+3_129+12del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000695181] |
Chr5:132557456..132557465 [GRCh38]
Chr5:131893148..131893157 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1694C>T (p.Ser565Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000693197] |
Chr5:132591935 [GRCh38]
Chr5:131927627 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1572G>C (p.Glu524Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000693415] |
Chr5:132591343 [GRCh38]
Chr5:131927035 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.192T>G (p.Asn64Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702809] |
Chr5:132559346 [GRCh38]
Chr5:131895038 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1880A>G (p.Asp627Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000704834] |
Chr5:132594955 [GRCh38]
Chr5:131930647 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2026G>C (p.Glu676Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000707664] |
Chr5:132595629 [GRCh38]
Chr5:131931321 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2981_2982del (p.Lys994fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000707680] |
Chr5:132609340..132609341 [GRCh38]
Chr5:131945032..131945033 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2294A>T (p.Lys765Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000702841] |
Chr5:132603386 [GRCh38]
Chr5:131939078 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.268A>G (p.Asn90Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000688493] |
Chr5:132575831 [GRCh38]
Chr5:131911523 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.837G>T (p.Lys279Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000690862] |
Chr5:132587642 [GRCh38]
Chr5:131923334 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2426T>A (p.Ile809Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000707623] |
Chr5:132603948 [GRCh38]
Chr5:131939640 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000696113] |
Chr5:132559282 [GRCh38]
Chr5:131894974 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.214-3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000703195] |
Chr5:132575774 [GRCh38]
Chr5:131911466 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207G>C (p.Arg736Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000691312] |
Chr5:132595810 [GRCh38]
Chr5:131931502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132575767)_(132575938_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000707958] |
Chr5:132575767..132575938 [GRCh38]
Chr5:131911459..131911630 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000696292]|Nijmegen breakage syndrome-like disorder [RCV003460947] |
Chr5:132616035 [GRCh38]
Chr5:131951727 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.45T>G (p.Phe15Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685037] |
Chr5:132557369 [GRCh38]
Chr5:131893061 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3885G>T (p.Gln1295His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000691398] |
Chr5:132642310 [GRCh38]
Chr5:131978002 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2769G>C (p.Gln923His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000705535] |
Chr5:132608665 [GRCh38]
Chr5:131944357 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+9del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000694128] |
Chr5:132609405 [GRCh38]
Chr5:131945097 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.307A>C (p.Thr103Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000699796] |
Chr5:132575870 [GRCh38]
Chr5:131911562 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3841_3859del (p.Glu1281fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000696654]|Nijmegen breakage syndrome-like disorder [RCV005034307]|not specified [RCV003235357] |
Chr5:132642262..132642280 [GRCh38]
Chr5:131977954..131977972 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1130A>G (p.Gln377Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700086] |
Chr5:132588765 [GRCh38]
Chr5:131924457 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1589A>G (p.His530Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000685839] |
Chr5:132591360 [GRCh38]
Chr5:131927052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.688A>G (p.Lys230Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000691706] |
Chr5:132579998 [GRCh38]
Chr5:131915690 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1594A>G (p.Thr532Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000703481] |
Chr5:132591365 [GRCh38]
Chr5:131927057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.41G>A (p.Ser14Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000705894] |
Chr5:132557365 [GRCh38]
Chr5:131893057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2809A>T (p.Asn937Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000706013] |
Chr5:132608705 [GRCh38]
Chr5:131944397 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.731A>G (p.Tyr244Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000694468] |
Chr5:132580041 [GRCh38]
Chr5:131915733 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1423C>A (p.Leu475Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000696928] |
Chr5:132589808 [GRCh38]
Chr5:131925500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.703A>G (p.Thr235Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000697034] |
Chr5:132580013 [GRCh38]
Chr5:131915705 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000700839] |
Chr5:132559283 [GRCh38]
Chr5:131894975 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.506G>A (p.Gly169Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686588] |
Chr5:132579457 [GRCh38]
Chr5:131915149 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1765C>T (p.Gln589Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000686622] |
Chr5:132592006 [GRCh38]
Chr5:131927698 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3752A>G (p.Glu1251Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000703635]|Nijmegen breakage syndrome-like disorder [RCV002257948] |
Chr5:132640805 [GRCh38]
Chr5:131976497 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000005.9:g.(?_131972801)_(131976503_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000708547] |
Chr5:132637109..132640811 [GRCh38]
Chr5:131972801..131976503 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3355A>G (p.Lys1119Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000689450] |
Chr5:132618260 [GRCh38]
Chr5:131953952 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005732.4(RAD50):c.3164+174T>C |
single nucleotide variant |
not provided [RCV001540752] |
Chr5:132616304 [GRCh38]
Chr5:131951996 [GRCh37]
Chr5:5q31.1 |
benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005732.4(RAD50):c.1245+23T>C |
single nucleotide variant |
not provided [RCV001610952] |
Chr5:132588903 [GRCh38]
Chr5:131924595 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.228A>G (p.Thr76=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000938030] |
Chr5:132575791 [GRCh38]
Chr5:131911483 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1497C>T (p.Thr499=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001441358] |
Chr5:132591268 [GRCh38]
Chr5:131926960 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+154A>G |
single nucleotide variant |
not provided [RCV001644209] |
Chr5:132618448 [GRCh38]
Chr5:131954140 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.129+236C>A |
single nucleotide variant |
not provided [RCV001648210] |
Chr5:132557689 [GRCh38]
Chr5:131893381 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1041T>C (p.Leu347=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001498431] |
Chr5:132588079 [GRCh38]
Chr5:131923771 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3789G>A (p.Gln1263=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021138] |
Chr5:132642214 [GRCh38]
Chr5:131977906 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2793C>T (p.Asn931=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000940995] |
Chr5:132608689 [GRCh38]
Chr5:131944381 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-278C>A |
single nucleotide variant |
not provided [RCV001681755] |
Chr5:132590946 [GRCh38]
Chr5:131926638 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1497C>G (p.Thr499=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011790]|not provided [RCV003478589] |
Chr5:132591268 [GRCh38]
Chr5:131926960 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3009C>T (p.Leu1003=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000937566] |
Chr5:132609369 [GRCh38]
Chr5:131945061 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+58A>T |
single nucleotide variant |
not provided [RCV001668066] |
Chr5:132588147 [GRCh38]
Chr5:131923839 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1405G>T (p.Gly469Ter) |
single nucleotide variant |
not provided [RCV000760882] |
Chr5:132589790 [GRCh38]
Chr5:131925482 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 |
copy number loss |
not provided [RCV000762739] |
Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2 |
likely pathogenic |
| NM_005732.4(RAD50):c.1821_1849del (p.Asn607fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001043351] |
Chr5:132594894..132594922 [GRCh38]
Chr5:131930586..131930614 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2156_2207+3332del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001065018] |
Chr5:132595757..132599140 [GRCh38]
Chr5:131931449..131934832 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1166G>A (p.Ser389Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001043853] |
Chr5:132588801 [GRCh38]
Chr5:131924493 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1933C>A (p.Leu645Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001066363] |
Chr5:132595008 [GRCh38]
Chr5:131930700 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132557325)_(132557463_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001031251] |
Chr5:131893017..131893155 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001045893] |
Chr5:132609278 [GRCh38]
Chr5:131944970 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3707A>G (p.Asn1236Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020934] |
Chr5:132640760 [GRCh38]
Chr5:131976452 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+33C>T |
single nucleotide variant |
not provided [RCV001668113] |
Chr5:132609429 [GRCh38]
Chr5:131945121 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3644T>C (p.Leu1215Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020788] |
Chr5:132640697 [GRCh38]
Chr5:131976389 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2397+10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000883158] |
Chr5:132603499 [GRCh38]
Chr5:131939191 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.252G>A (p.Leu84=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001437741] |
Chr5:132575815 [GRCh38]
Chr5:131911507 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1689A>G (p.Leu563=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000929247]|not specified [RCV001251340] |
Chr5:132591930 [GRCh38]
Chr5:131927622 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.141A>G (p.Glu47=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011450] |
Chr5:132559295 [GRCh38]
Chr5:131894987 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2244A>G (p.Pro748=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001432400] |
Chr5:132603336 [GRCh38]
Chr5:131939028 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2976A>G (p.Lys992=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001423404] |
Chr5:132609336 [GRCh38]
Chr5:131945028 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2319A>G (p.Thr773=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001424340] |
Chr5:132603411 [GRCh38]
Chr5:131939103 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1428A>G (p.Glu476=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011489] |
Chr5:132589813 [GRCh38]
Chr5:131925505 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1278A>G (p.Gln426=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001485255] |
Chr5:132589663 [GRCh38]
Chr5:131925355 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2535G>A (p.Lys845=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001435010] |
Chr5:132604816 [GRCh38]
Chr5:131940508 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1308A>G (p.Lys436=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010905] |
Chr5:132589693 [GRCh38]
Chr5:131925385 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.960G>A (p.Arg320=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000928741] |
Chr5:132587998 [GRCh38]
Chr5:131923690 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-6G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001401997] |
Chr5:132591218 [GRCh38]
Chr5:131926910 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.975T>C (p.Cys325=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001457402] |
Chr5:132588013 [GRCh38]
Chr5:131923705 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+8G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000877605] |
Chr5:132592042 [GRCh38]
Chr5:131927734 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001393123] |
Chr5:132637111 [GRCh38]
Chr5:131972803 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+8T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001482872] |
Chr5:132640813 [GRCh38]
Chr5:131976505 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-9_2208-7del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001408299] |
Chr5:132603290..132603292 [GRCh38]
Chr5:131938982..131938984 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.270T>C (p.Asn90=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001470217] |
Chr5:132575833 [GRCh38]
Chr5:131911525 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2043C>T (p.Cys681=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001462255] |
Chr5:132595646 [GRCh38]
Chr5:131931338 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.885+8G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001423896] |
Chr5:132587698 [GRCh38]
Chr5:131923390 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2583A>G (p.Gln861=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000926420] |
Chr5:132604864 [GRCh38]
Chr5:131940556 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2525-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000982573] |
Chr5:132604802 [GRCh38]
Chr5:131940494 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1365T>C (p.Asn455=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001492547] |
Chr5:132589750 [GRCh38]
Chr5:131925442 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001036910]|not provided [RCV003238275] |
Chr5:132588686 [GRCh38]
Chr5:131924378 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1452+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052879] |
Chr5:132589838 [GRCh38]
Chr5:131925530 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1766A>T (p.Gln589Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001047552] |
Chr5:132592007 [GRCh38]
Chr5:131927699 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2385G>A (p.Met795Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001035009] |
Chr5:132603477 [GRCh38]
Chr5:131939169 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3271_3272del (p.Glu1091fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001019558] |
Chr5:132618175..132618176 [GRCh38]
Chr5:131953867..131953868 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3285A>G (p.Pro1095=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019664] |
Chr5:132618190 [GRCh38]
Chr5:131953882 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3479T>C (p.Ile1160Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058489] |
Chr5:132638084 [GRCh38]
Chr5:131973776 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1094G>C (p.Arg365Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001062206] |
Chr5:132588729 [GRCh38]
Chr5:131924421 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053033] |
Chr5:132595049 [GRCh38]
Chr5:131930741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.756+2T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001061494] |
Chr5:132580068 [GRCh38]
Chr5:131915760 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.409G>T (p.Asp137Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001061607] |
Chr5:132579360 [GRCh38]
Chr5:131915052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1947T>G (p.Ile649Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058666] |
Chr5:132595022 [GRCh38]
Chr5:131930714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3767G>T (p.Arg1256Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001071439] |
Chr5:132642192 [GRCh38]
Chr5:131977884 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.830G>A (p.Ser277Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001056575] |
Chr5:132587635 [GRCh38]
Chr5:131923327 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.689del (p.Lys230fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001071477] |
Chr5:132579998 [GRCh38]
Chr5:131915690 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.230A>G (p.Asp77Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001039525] |
Chr5:132575793 [GRCh38]
Chr5:131911485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1311_1312del (p.Gly438fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001053802] |
Chr5:132589696..132589697 [GRCh38]
Chr5:131925388..131925389 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.933C>G (p.His311Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001059074] |
Chr5:132587971 [GRCh38]
Chr5:131923663 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1508A>G (p.Glu503Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001059115] |
Chr5:132591279 [GRCh38]
Chr5:131926971 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.589C>G (p.Gln197Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001071582] |
Chr5:132579899 [GRCh38]
Chr5:131915591 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3070T>A (p.Leu1024Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001048236] |
Chr5:132616036 [GRCh38]
Chr5:131951728 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.531T>A (p.Asp177Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001050233] |
Chr5:132579482 [GRCh38]
Chr5:131915174 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3865A>T (p.Ile1289Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052308] |
Chr5:132642290 [GRCh38]
Chr5:131977982 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132579307)_(132605009_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001032619] |
Chr5:131914999..131940701 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3701C>A (p.Thr1234Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001059648] |
Chr5:132640754 [GRCh38]
Chr5:131976446 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+3A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001057391] |
Chr5:132592037 [GRCh38]
Chr5:131927729 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3160_3164+8del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001059857]|Nijmegen breakage syndrome-like disorder [RCV003467803] |
Chr5:132616126..132616138 [GRCh38]
Chr5:131951818..131951830 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3187A>C (p.Asn1063His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001050557] |
Chr5:132618092 [GRCh38]
Chr5:131953784 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1570G>A (p.Glu524Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052094] |
Chr5:132591341 [GRCh38]
Chr5:131927033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3758T>C (p.Ile1253Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001038308] |
Chr5:132642183 [GRCh38]
Chr5:131977875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2363G>A (p.Cys788Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052561] |
Chr5:132603455 [GRCh38]
Chr5:131939147 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2397+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001038351] |
Chr5:132603490 [GRCh38]
Chr5:131939182 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_005732.4(RAD50):c.3872dup (p.Asn1292fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000801142] |
Chr5:132642292..132642293 [GRCh38]
Chr5:131977984..131977985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3893A>G (p.Glu1298Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792105] |
Chr5:132642318 [GRCh38]
Chr5:131978010 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.677A>C (p.Gln226Pro) |
single nucleotide variant |
not specified [RCV000781786] |
Chr5:132579987 [GRCh38]
Chr5:131915679 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2627A>G (p.Gln876Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792879] |
Chr5:132604908 [GRCh38]
Chr5:131940600 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3390-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001430664]|not specified [RCV000781785] |
Chr5:132637110 [GRCh38]
Chr5:131972802 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1482C>T (p.Asn494=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001394817] |
Chr5:132591253 [GRCh38]
Chr5:131926945 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1417A>C (p.Arg473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001418900] |
Chr5:132589802 [GRCh38]
Chr5:131925494 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1971C>T (p.Ala657=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013900] |
Chr5:132595574 [GRCh38]
Chr5:131931266 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2439A>G (p.Ala813=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001460033] |
Chr5:132603961 [GRCh38]
Chr5:131939653 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3177G>A (p.Lys1059=) |
single nucleotide variant |
not provided [RCV000938324] |
Chr5:132618082 [GRCh38]
Chr5:131953774 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.958A>C (p.Arg320=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000982311] |
Chr5:132587996 [GRCh38]
Chr5:131923688 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3309G>A (p.Lys1103=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019850] |
Chr5:132618214 [GRCh38]
Chr5:131953906 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000969710] |
Chr5:132579852 [GRCh38]
Chr5:131915544 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3198T>C (p.Asn1066=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001419866] |
Chr5:132618103 [GRCh38]
Chr5:131953795 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000978112] |
Chr5:132591216 [GRCh38]
Chr5:131926908 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3021T>C (p.Asp1007=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000942851] |
Chr5:132609381 [GRCh38]
Chr5:131945073 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2814A>G (p.Lys938=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001408720] |
Chr5:132608710 [GRCh38]
Chr5:131944402 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3915C>T (p.Ser1305=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021428] |
Chr5:132642340 [GRCh38]
Chr5:131978032 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+9A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000875802] |
Chr5:132605008 [GRCh38]
Chr5:131940700 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2525-6G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000861059]|RAD50-related disorder [RCV003975366] |
Chr5:132604800 [GRCh38]
Chr5:131940492 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001466272] |
Chr5:132618302 [GRCh38]
Chr5:131953994 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.36G>A (p.Val12=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001477796]|Nijmegen breakage syndrome-like disorder [RCV002258068]|not specified [RCV003479252] |
Chr5:132557360 [GRCh38]
Chr5:131893052 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3381T>G (p.Thr1127=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001452063] |
Chr5:132618286 [GRCh38]
Chr5:131953978 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.651G>A (p.Lys217=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025366] |
Chr5:132579961 [GRCh38]
Chr5:131915653 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001500989] |
Chr5:132557463 [GRCh38]
Chr5:131893155 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-7T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001431448] |
Chr5:132587555 [GRCh38]
Chr5:131923247 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+7A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001417531] |
Chr5:132605006 [GRCh38]
Chr5:131940698 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.933C>T (p.His311=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001428301] |
Chr5:132587971 [GRCh38]
Chr5:131923663 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3179T>A (p.Leu1060Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019015] |
Chr5:132618084 [GRCh38]
Chr5:131953776 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.325A>G (p.Thr109Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019490] |
Chr5:132575888 [GRCh38]
Chr5:131911580 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.95C>A (p.Thr32Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019541] |
Chr5:132557419 [GRCh38]
Chr5:131893111 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.989A>G (p.Glu330Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019866] |
Chr5:132588027 [GRCh38]
Chr5:131923719 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3046A>C (p.Arg1016=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001410495] |
Chr5:132616012 [GRCh38]
Chr5:131951704 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2157A>G (p.Leu719=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001410500] |
Chr5:132595760 [GRCh38]
Chr5:131931452 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.829A>G (p.Ser277Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000809664]|Nijmegen breakage syndrome-like disorder [RCV002257976] |
Chr5:132587634 [GRCh38]
Chr5:131923326 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.762_765dup (p.Lys256fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000799258] |
Chr5:132587566..132587567 [GRCh38]
Chr5:131923258..131923259 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2422A>C (p.Lys808Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000802603] |
Chr5:132603944 [GRCh38]
Chr5:131939636 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2802T>G (p.Asn934Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793706] |
Chr5:132608698 [GRCh38]
Chr5:131944390 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2236G>A (p.Glu746Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000817358] |
Chr5:132603328 [GRCh38]
Chr5:131939020 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3843A>G (p.Glu1281=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793611] |
Chr5:132642268 [GRCh38]
Chr5:131977960 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2872A>G (p.Met958Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793133] |
Chr5:132609159 [GRCh38]
Chr5:131944851 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3517G>A (p.Val1173Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793843] |
Chr5:132638122 [GRCh38]
Chr5:131973814 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2203A>G (p.Met735Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000798095] |
Chr5:132595806 [GRCh38]
Chr5:131931498 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3830T>C (p.Leu1277Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000806487] |
Chr5:132642255 [GRCh38]
Chr5:131977947 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3816T>G (p.Asp1272Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000806759]|Nijmegen breakage syndrome-like disorder [RCV004569635] |
Chr5:132642241 [GRCh38]
Chr5:131977933 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3029C>T (p.Thr1010Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000814353] |
Chr5:132609389 [GRCh38]
Chr5:131945081 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3230G>T (p.Arg1077Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000814601] |
Chr5:132618135 [GRCh38]
Chr5:131953827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2996A>C (p.Glu999Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000801227] |
Chr5:132609356 [GRCh38]
Chr5:131945048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.755A>C (p.Lys252Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000819377] |
Chr5:132580065 [GRCh38]
Chr5:131915757 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.410_411del (p.Asp137fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000807165] |
Chr5:132579361..132579362 [GRCh38]
Chr5:131915053..131915054 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2883T>G (p.Ile961Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000819440] |
Chr5:132609170 [GRCh38]
Chr5:131944862 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1835A>G (p.Asn612Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000810707] |
Chr5:132594910 [GRCh38]
Chr5:131930602 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.20T>C (p.Met7Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000817788] |
Chr5:132557344 [GRCh38]
Chr5:131893036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000807766] |
Chr5:132559371 [GRCh38]
Chr5:131895063 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2755T>G (p.Leu919Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000806285] |
Chr5:132608651 [GRCh38]
Chr5:131944343 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1889T>C (p.Phe630Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000819710] |
Chr5:132594964 [GRCh38]
Chr5:131930656 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.725A>C (p.Lys242Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803334] |
Chr5:132580035 [GRCh38]
Chr5:131915727 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3764G>T (p.Ser1255Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000819756] |
Chr5:132642189 [GRCh38]
Chr5:131977881 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1291_1295del (p.Glu431fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000810455] |
Chr5:132589672..132589676 [GRCh38]
Chr5:131925364..131925368 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3892G>C (p.Glu1298Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000797899] |
Chr5:132642317 [GRCh38]
Chr5:131978009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000819769] |
Chr5:132592040 [GRCh38]
Chr5:131927732 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3431A>G (p.Asn1144Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821656] |
Chr5:132637156 [GRCh38]
Chr5:131972848 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.481G>T (p.Asp161Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000824369] |
Chr5:132579432 [GRCh38]
Chr5:131915124 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3775_3788del (p.Gln1259fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000807111] |
Chr5:132642200..132642213 [GRCh38]
Chr5:131977892..131977905 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2525-3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000798213] |
Chr5:132604803 [GRCh38]
Chr5:131940495 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2792del (p.Asn931fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000800001] |
Chr5:132608687 [GRCh38]
Chr5:131944379 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3140A>G (p.Gln1047Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000801751] |
Chr5:132616106 [GRCh38]
Chr5:131951798 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3381T>C (p.Thr1127=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020152] |
Chr5:132618286 [GRCh38]
Chr5:131953978 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3928A>G (p.Asn1310Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821806] |
Chr5:132642353 [GRCh38]
Chr5:131978045 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.211A>G (p.Lys71Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000808525] |
Chr5:132559365 [GRCh38]
Chr5:131895057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1099A>G (p.Arg367Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000816767] |
Chr5:132588734 [GRCh38]
Chr5:131924426 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000798583] |
Chr5:132557453 [GRCh38]
Chr5:131893145 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1640A>G (p.Asp547Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000815180] |
Chr5:132591881 [GRCh38]
Chr5:131927573 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2714T>G (p.Ile905Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803897] |
Chr5:132604995 [GRCh38]
Chr5:131940687 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3910G>A (p.Val1304Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822094] |
Chr5:132642335 [GRCh38]
Chr5:131978027 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1824A>G (p.Lys608=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001474264] |
Chr5:132594899 [GRCh38]
Chr5:131930591 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1798G>A (p.Glu600Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000808517] |
Chr5:132594873 [GRCh38]
Chr5:131930565 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2095A>G (p.Ser699Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000808193] |
Chr5:132595698 [GRCh38]
Chr5:131931390 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3172C>G (p.Gln1058Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792493] |
Chr5:132618077 [GRCh38]
Chr5:131953769 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3614A>G (p.Gln1205Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000818610]|not provided [RCV004997383] |
Chr5:132638219 [GRCh38]
Chr5:131973911 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2269G>A (p.Val757Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822109] |
Chr5:132603361 [GRCh38]
Chr5:131939053 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1777A>C (p.Arg593=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001414020] |
Chr5:132592018 [GRCh38]
Chr5:131927710 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.477A>G (p.Gln159=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000813046] |
Chr5:132579428 [GRCh38]
Chr5:131915120 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.197T>G (p.Phe66Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000809291] |
Chr5:132559351 [GRCh38]
Chr5:131895043 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3124T>C (p.Leu1042=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000975510] |
Chr5:132616090 [GRCh38]
Chr5:131951782 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.35T>G (p.Val12Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792723] |
Chr5:132557359 [GRCh38]
Chr5:131893051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2848A>C (p.Lys950Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000813135] |
Chr5:132609135 [GRCh38]
Chr5:131944827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1092C>G (p.Ile364Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000808693] |
Chr5:132588727 [GRCh38]
Chr5:131924419 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1750T>C (p.Ser584Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000820642] |
Chr5:132591991 [GRCh38]
Chr5:131927683 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3435A>C (p.Lys1145Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000805946] |
Chr5:132637160 [GRCh38]
Chr5:131972852 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2299_2311del (p.Asp767fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000803033] |
Chr5:132603385..132603397 [GRCh38]
Chr5:131939077..131939089 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3935A>G (p.His1312Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793318] |
Chr5:132642360 [GRCh38]
Chr5:131978052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1073A>G (p.Asp358Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000812921] |
Chr5:132588708 [GRCh38]
Chr5:131924400 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3562A>C (p.Met1188Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000812925] |
Chr5:132638167 [GRCh38]
Chr5:131973859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5q31.1(chr5:131922768-131924818)x1 |
copy number loss |
not provided [RCV000998508] |
Chr5:131922768..131924818 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2668C>T (p.Gln890Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000813082] |
Chr5:132604949 [GRCh38]
Chr5:131940641 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1204G>C (p.Glu402Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000816672] |
Chr5:132588839 [GRCh38]
Chr5:131924531 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3390-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000800589] |
Chr5:132637112 [GRCh38]
Chr5:131972804 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1037T>G (p.Leu346Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000820221]|not provided [RCV003478521] |
Chr5:132588075 [GRCh38]
Chr5:131923767 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.494C>G (p.Pro165Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803871]|Nijmegen breakage syndrome-like disorder [RCV003461147] |
Chr5:132579445 [GRCh38]
Chr5:131915137 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3035A>G (p.Lys1012Arg) |
single nucleotide variant |
Familial cancer of breast [RCV004577535]|Hereditary cancer-predisposing syndrome [RCV000807014] |
Chr5:132609395 [GRCh38]
Chr5:131945087 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2960T>A (p.Leu987Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803980] |
Chr5:132609320 [GRCh38]
Chr5:131945012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1516A>T (p.Ser506Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000804123] |
Chr5:132591287 [GRCh38]
Chr5:131926979 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2801A>T (p.Asn934Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000823342] |
Chr5:132608697 [GRCh38]
Chr5:131944389 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2467C>G (p.Arg823Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000817616] |
Chr5:132603989 [GRCh38]
Chr5:131939681 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.894A>G (p.Gln298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000820825] |
Chr5:132587932 [GRCh38]
Chr5:131923624 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3725T>C (p.Ile1242Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000801395] |
Chr5:132640778 [GRCh38]
Chr5:131976470 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.187G>A (p.Gly63Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000820997] |
Chr5:132559341 [GRCh38]
Chr5:131895033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1849A>G (p.Arg617Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821020] |
Chr5:132594924 [GRCh38]
Chr5:131930616 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2933C>T (p.Thr978Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821121] |
Chr5:132609293 [GRCh38]
Chr5:131944985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3779G>C (p.Arg1260Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000797792] |
Chr5:132642204 [GRCh38]
Chr5:131977896 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3296A>G (p.Asp1099Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000808012] |
Chr5:132618201 [GRCh38]
Chr5:131953893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2864A>C (p.His955Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821350]|Nijmegen breakage syndrome-like disorder [RCV005036218] |
Chr5:132609151 [GRCh38]
Chr5:131944843 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2039G>A (p.Cys680Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000824014] |
Chr5:132595642 [GRCh38]
Chr5:131931334 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1704del (p.Tyr569fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000814878] |
Chr5:132591945 [GRCh38]
Chr5:131927637 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.428C>A (p.Ser143Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000809116]|Nijmegen breakage syndrome-like disorder [RCV003461182] |
Chr5:132579379 [GRCh38]
Chr5:131915071 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.286G>T (p.Val96Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000811667] |
Chr5:132575849 [GRCh38]
Chr5:131911541 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3219G>C (p.Leu1073Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019299] |
Chr5:132618124 [GRCh38]
Chr5:131953816 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1397A>C (p.Gln466Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000811615] |
Chr5:132589782 [GRCh38]
Chr5:131925474 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1597A>G (p.Thr533Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001066387]|not provided [RCV004693567] |
Chr5:132591368 [GRCh38]
Chr5:131927060 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2919G>C (p.Lys973Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000795210] |
Chr5:132609206 [GRCh38]
Chr5:131944898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2810A>G (p.Asn937Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001045564] |
Chr5:132608706 [GRCh38]
Chr5:131944398 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.236G>A (p.Arg79Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001066843] |
Chr5:132575799 [GRCh38]
Chr5:131911491 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.710C>T (p.Ser237Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000807654] |
Chr5:132580020 [GRCh38]
Chr5:131915712 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1571A>C (p.Glu524Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000812773] |
Chr5:132591342 [GRCh38]
Chr5:131927034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3487A>T (p.Ile1163Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000812818] |
Chr5:132638092 [GRCh38]
Chr5:131973784 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1088A>G (p.His363Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000812849]|Nijmegen breakage syndrome-like disorder [RCV002259025] |
Chr5:132588723 [GRCh38]
Chr5:131924415 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.595C>G (p.Gln199Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000794466] |
Chr5:132579905 [GRCh38]
Chr5:131915597 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3120_3121delinsGA (p.His1041Asn) |
indel |
Hereditary cancer-predisposing syndrome [RCV000808936] |
Chr5:132616086..132616087 [GRCh38]
Chr5:131951778..131951779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3194A>G (p.Asp1065Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000794920] |
Chr5:132618099 [GRCh38]
Chr5:131953791 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.482A>T (p.Asp161Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792837] |
Chr5:132579433 [GRCh38]
Chr5:131915125 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3076A>G (p.Lys1026Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792919] |
Chr5:132616042 [GRCh38]
Chr5:131951734 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.150A>G (p.Lys50=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793413] |
Chr5:132559304 [GRCh38]
Chr5:131894996 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132557315)_(132642374_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000820608] |
Chr5:132557315..132642374 [GRCh38]
Chr5:131893007..131978066 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3049T>A (p.Trp1017Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000810245] |
Chr5:132616015 [GRCh38]
Chr5:131951707 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2191G>A (p.Gly731Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000801818]|Nijmegen breakage syndrome-like disorder [RCV004569580] |
Chr5:132595794 [GRCh38]
Chr5:131931486 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000821612] |
Chr5:132592035 [GRCh38]
Chr5:131927727 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.528T>C (p.Phe176=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023874] |
Chr5:132579479 [GRCh38]
Chr5:131915171 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1626C>G (p.Thr542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000939419] |
Chr5:132591397 [GRCh38]
Chr5:131927089 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.10:g.(?_132575767)_(132642374_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000792780] |
Chr5:132575767..132642374 [GRCh38]
Chr5:131911459..131978066 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2421A>T (p.Arg807Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822027] |
Chr5:132603943 [GRCh38]
Chr5:131939635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1968A>G (p.Arg656=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822035] |
Chr5:132595043 [GRCh38]
Chr5:131930735 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1748A>C (p.Lys583Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822249] |
Chr5:132591989 [GRCh38]
Chr5:131927681 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1435C>G (p.Gln479Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000815822] |
Chr5:132589820 [GRCh38]
Chr5:131925512 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822417]|not provided [RCV004997387] |
Chr5:132604049 [GRCh38]
Chr5:131939741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2200C>T (p.Pro734Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000822634] |
Chr5:132595803 [GRCh38]
Chr5:131931495 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3346C>G (p.Leu1116Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000816170] |
Chr5:132618251 [GRCh38]
Chr5:131953943 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.368A>G (p.His123Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000803023] |
Chr5:132579319 [GRCh38]
Chr5:131915011 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3704C>T (p.Thr1235Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000791784] |
Chr5:132640757 [GRCh38]
Chr5:131976449 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1391dup (p.Leu464fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000802404] |
Chr5:132589774..132589775 [GRCh38]
Chr5:131925466..131925467 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000799846]|Nijmegen breakage syndrome-like disorder [RCV003467380] |
Chr5:132589745 [GRCh38]
Chr5:131925437 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2021C>G (p.Thr674Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000800066] |
Chr5:132595624 [GRCh38]
Chr5:131931316 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3864del (p.Ile1289fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000816646] |
Chr5:132642288 [GRCh38]
Chr5:131977980 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1535C>T (p.Ala512Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000816647] |
Chr5:132591306 [GRCh38]
Chr5:131926998 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1442T>A (p.Leu481His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000797081] |
Chr5:132589827 [GRCh38]
Chr5:131925519 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2363G>T (p.Cys788Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000800308] |
Chr5:132603455 [GRCh38]
Chr5:131939147 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.471T>A (p.Cys157Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000792461] |
Chr5:132579422 [GRCh38]
Chr5:131915114 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.757-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000874609] |
Chr5:132587553 [GRCh38]
Chr5:131923245 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2252_2254del (p.Arg751del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000817528] |
Chr5:132603342..132603344 [GRCh38]
Chr5:131939034..131939036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.147A>G (p.Leu49=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000976944] |
Chr5:132559301 [GRCh38]
Chr5:131894993 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3703A>G (p.Thr1235Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000793155] |
Chr5:132640756 [GRCh38]
Chr5:131976448 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3439A>G (p.Ile1147Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000798092] |
Chr5:132637164 [GRCh38]
Chr5:131972856 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2418A>T (p.Glu806Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000801327] |
Chr5:132603940 [GRCh38]
Chr5:131939632 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2190_2191delinsCT (p.Gly731Ter) |
indel |
Hereditary cancer-predisposing syndrome [RCV000804595]|Nijmegen breakage syndrome-like disorder [RCV005036173] |
Chr5:132595793..132595794 [GRCh38]
Chr5:131931485..131931486 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3461C>T (p.Thr1154Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020363] |
Chr5:132637186 [GRCh38]
Chr5:131972878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3753-5T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021056] |
Chr5:132642173 [GRCh38]
Chr5:131977865 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3855A>G (p.Lys1285=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021296] |
Chr5:132642280 [GRCh38]
Chr5:131977972 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.405A>G (p.Glu135=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021771] |
Chr5:132579356 [GRCh38]
Chr5:131915048 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1635dup (p.Ala546fs) |
duplication |
Hereditary breast ovarian cancer syndrome [RCV001030503] |
Chr5:132591403..132591404 [GRCh38]
Chr5:131927095..131927096 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018975] |
Chr5:132618080 [GRCh38]
Chr5:131953772 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3796G>A (p.Val1266Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021162] |
Chr5:132642221 [GRCh38]
Chr5:131977913 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3857T>G (p.Phe1286Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021300] |
Chr5:132642282 [GRCh38]
Chr5:131977974 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1017dup (p.Asn340fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001009708] |
Chr5:132588054..132588055 [GRCh38]
Chr5:131923746..131923747 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1051+9A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001487144] |
Chr5:132588098 [GRCh38]
Chr5:131923790 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2353G>A (p.Ala785Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001068924] |
Chr5:132603445 [GRCh38]
Chr5:131939137 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3564G>A (p.Met1188Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020617] |
Chr5:132638169 [GRCh38]
Chr5:131973861 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3200T>C (p.Ile1067Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001043001]|Nijmegen breakage syndrome-like disorder [RCV005036319] |
Chr5:132618105 [GRCh38]
Chr5:131953797 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3630A>G (p.Ser1210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020762] |
Chr5:132640683 [GRCh38]
Chr5:131976375 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3652G>T (p.Ala1218Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020807] |
Chr5:132640705 [GRCh38]
Chr5:131976397 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3780dup (p.Asn1261Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001021123] |
Chr5:132642204..132642205 [GRCh38]
Chr5:131977896..131977897 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3567G>A (p.Leu1189=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020629] |
Chr5:132638172 [GRCh38]
Chr5:131973864 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.420G>T (p.Met140Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022062] |
Chr5:132579371 [GRCh38]
Chr5:131915063 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1487A>T (p.Asn496Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001044062] |
Chr5:132591258 [GRCh38]
Chr5:131926950 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3610_3611delinsTT (p.Gly1204Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV001020721] |
Chr5:132638215..132638216 [GRCh38]
Chr5:131973907..131973908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3668T>A (p.Leu1223His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020839] |
Chr5:132640721 [GRCh38]
Chr5:131976413 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.436G>T (p.Val146Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022372] |
Chr5:132579387 [GRCh38]
Chr5:131915079 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.979C>G (p.Arg327Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019763] |
Chr5:132588017 [GRCh38]
Chr5:131923709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3596G>T (p.Gly1199Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001210796] |
Chr5:132638201 [GRCh38]
Chr5:131973893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3478A>T (p.Ile1160Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020397] |
Chr5:132638083 [GRCh38]
Chr5:131973775 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3335G>A (p.Arg1112Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020020] |
Chr5:132618240 [GRCh38]
Chr5:131953932 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3429C>A (p.Ile1143=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020277] |
Chr5:132637154 [GRCh38]
Chr5:131972846 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3442C>G (p.Arg1148Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020318] |
Chr5:132637167 [GRCh38]
Chr5:131972859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-2A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001202968] |
Chr5:132575775 [GRCh38]
Chr5:131911467 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3491A>G (p.Glu1164Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020431] |
Chr5:132638096 [GRCh38]
Chr5:131973788 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.480A>G (p.Glu160=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023089] |
Chr5:132579431 [GRCh38]
Chr5:131915123 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.10:g.(?_132637105)_(132638233_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001031721] |
Chr5:131972797..131973925 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3783C>T (p.Asn1261=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021126] |
Chr5:132642208 [GRCh38]
Chr5:131977900 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3888C>T (p.Cys1296=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021358] |
Chr5:132642313 [GRCh38]
Chr5:131978005 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.399T>G (p.Cys133Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021613] |
Chr5:132579350 [GRCh38]
Chr5:131915042 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.406A>G (p.Ile136Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021799] |
Chr5:132579357 [GRCh38]
Chr5:131915049 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001229945]|Nijmegen breakage syndrome-like disorder [RCV003469405] |
Chr5:132588686 [GRCh38]
Chr5:131924378 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2267A>C (p.Asn756Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234093] |
Chr5:132603359 [GRCh38]
Chr5:131939051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3460_3462delinsCGTGGTCACG (p.Thr1154fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV001248666] |
Chr5:132637185..132637187 [GRCh38]
Chr5:131972877..131972879 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2609T>G (p.Leu870Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001222221] |
Chr5:132604890 [GRCh38]
Chr5:131940582 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3740A>T (p.His1247Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001220693] |
Chr5:132640793 [GRCh38]
Chr5:131976485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1952A>T (p.Lys651Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234294]|not provided [RCV004998755] |
Chr5:132595027 [GRCh38]
Chr5:131930719 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1379T>G (p.Val460Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001226513] |
Chr5:132589764 [GRCh38]
Chr5:131925456 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1452+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001203352] |
Chr5:132589842 [GRCh38]
Chr5:131925534 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3356A>C (p.Lys1119Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001203376] |
Chr5:132618261 [GRCh38]
Chr5:131953953 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.840G>C (p.Lys280Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001233648] |
Chr5:132587645 [GRCh38]
Chr5:131923337 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-10_2398-3del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001233650] |
Chr5:132603907..132603914 [GRCh38]
Chr5:131939599..131939606 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.866T>G (p.Leu289Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001237403] |
Chr5:132587671 [GRCh38]
Chr5:131923363 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.821C>T (p.Ala274Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001220313]|Nijmegen breakage syndrome-like disorder [RCV004570511] |
Chr5:132587626 [GRCh38]
Chr5:131923318 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.828T>G (p.Asp276Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001220314] |
Chr5:132587633 [GRCh38]
Chr5:131923325 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3769T>C (p.Ser1257Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001226810] |
Chr5:132642194 [GRCh38]
Chr5:131977886 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3814G>C (p.Asp1272His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001231913] |
Chr5:132642239 [GRCh38]
Chr5:131977931 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214G>T (p.Val72Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001241182] |
Chr5:132575777 [GRCh38]
Chr5:131911469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3026A>T (p.Asp1009Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234895] |
Chr5:132609386 [GRCh38]
Chr5:131945078 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.655A>G (p.Lys219Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001206602] |
Chr5:132579965 [GRCh38]
Chr5:131915657 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.419T>C (p.Met140Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001209700] |
Chr5:132579370 [GRCh38]
Chr5:131915062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1922A>T (p.Asp641Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001221424] |
Chr5:132594997 [GRCh38]
Chr5:131930689 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3474A>C (p.Gln1158His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001223662] |
Chr5:132637199 [GRCh38]
Chr5:131972891 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1807T>G (p.Ser603Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001235269] |
Chr5:132594882 [GRCh38]
Chr5:131930574 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.731A>T (p.Tyr244Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001221308] |
Chr5:132580041 [GRCh38]
Chr5:131915733 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2867G>T (p.Gly956Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001243407] |
Chr5:132609154 [GRCh38]
Chr5:131944846 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001245698] |
Chr5:132579462 [GRCh38]
Chr5:131915154 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.991A>G (p.Lys331Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001207168] |
Chr5:132588029 [GRCh38]
Chr5:131923721 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.934C>T (p.Gln312Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001239823] |
Chr5:132587972 [GRCh38]
Chr5:131923664 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2197G>T (p.Val733Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001223300] |
Chr5:132595800 [GRCh38]
Chr5:131931492 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.508A>G (p.Lys170Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001238233] |
Chr5:132579459 [GRCh38]
Chr5:131915151 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2908G>T (p.Asp970Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001211190] |
Chr5:132609195 [GRCh38]
Chr5:131944887 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001240706] |
Chr5:132591399 [GRCh38]
Chr5:131927091 [GRCh37]
Chr5:5q31.1 |
benign|uncertain significance |
| NM_005732.4(RAD50):c.1445delinsAACTTACC (p.Ile482fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV001239800] |
Chr5:132589830 [GRCh38]
Chr5:131925522 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2525-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001238390]|Nijmegen breakage syndrome-like disorder [RCV005036521] |
Chr5:132604805 [GRCh38]
Chr5:131940497 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1151A>C (p.Glu384Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001211813] |
Chr5:132588786 [GRCh38]
Chr5:131924478 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1189del (p.His397fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001242237] |
Chr5:132588824 [GRCh38]
Chr5:131924516 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2334A>G (p.Ile778Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001232653] |
Chr5:132603426 [GRCh38]
Chr5:131939118 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2419A>G (p.Arg807Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001204298] |
Chr5:132603941 [GRCh38]
Chr5:131939633 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3611G>C (p.Gly1204Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001219096] |
Chr5:132638216 [GRCh38]
Chr5:131973908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2614T>C (p.Ser872Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001242376] |
Chr5:132604895 [GRCh38]
Chr5:131940587 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1868C>G (p.Ser623Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001219224] |
Chr5:132594943 [GRCh38]
Chr5:131930635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2615C>T (p.Ser872Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001201910] |
Chr5:132604896 [GRCh38]
Chr5:131940588 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1263del (p.Glu422fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001236341]|not provided [RCV004998757] |
Chr5:132589644 [GRCh38]
Chr5:131925336 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3799A>G (p.Ile1267Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001236433] |
Chr5:132642224 [GRCh38]
Chr5:131977916 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020165] |
Chr5:132618295 [GRCh38]
Chr5:131953987 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.365+4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001246187] |
Chr5:132575932 [GRCh38]
Chr5:131911624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.596A>C (p.Gln199Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001201443] |
Chr5:132579906 [GRCh38]
Chr5:131915598 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3781_3784dup (p.Phe1262Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001021124] |
Chr5:132642204..132642205 [GRCh38]
Chr5:131977896..131977897 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.317G>A (p.Ser106Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001065408] |
Chr5:132575880 [GRCh38]
Chr5:131911572 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1300G>A (p.Asp434Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001068761] |
Chr5:132589685 [GRCh38]
Chr5:131925377 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.430C>G (p.Leu144Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022264] |
Chr5:132579381 [GRCh38]
Chr5:131915073 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3539G>T (p.Arg1180Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001230379] |
Chr5:132638144 [GRCh38]
Chr5:131973836 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.447T>C (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022550] |
Chr5:132579398 [GRCh38]
Chr5:131915090 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.448G>C (p.Val150Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022567] |
Chr5:132579399 [GRCh38]
Chr5:131915091 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.136A>G (p.Ile46Val) |
single nucleotide variant |
Familial cancer of breast [RCV003239298] |
Chr5:132559290 [GRCh38]
Chr5:131894982 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-115A>G |
single nucleotide variant |
not provided [RCV001643767] |
Chr5:132603805 [GRCh38]
Chr5:131939497 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1916A>C (p.Glu639Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293387] |
Chr5:132594991 [GRCh38]
Chr5:131930683 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2951T>G (p.Ile984Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293391] |
Chr5:132609311 [GRCh38]
Chr5:131945003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1830T>C (p.His610=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293392] |
Chr5:132594905 [GRCh38]
Chr5:131930597 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1744A>T (p.Ser582Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293393] |
Chr5:132591985 [GRCh38]
Chr5:131927677 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3673T>G (p.Cys1225Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293396] |
Chr5:132640726 [GRCh38]
Chr5:131976418 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2623C>G (p.Leu875Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293398] |
Chr5:132604904 [GRCh38]
Chr5:131940596 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1453-118G>A |
single nucleotide variant |
not provided [RCV001638621] |
Chr5:132591106 [GRCh38]
Chr5:131926798 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2525-157G>A |
single nucleotide variant |
not provided [RCV001698733] |
Chr5:132604649 [GRCh38]
Chr5:131940341 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1246-42T>A |
single nucleotide variant |
not provided [RCV001638965] |
Chr5:132589589 [GRCh38]
Chr5:131925281 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1969+30A>C |
single nucleotide variant |
not provided [RCV001660961] |
Chr5:132595074 [GRCh38]
Chr5:131930766 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1246-136T>C |
single nucleotide variant |
not provided [RCV001535045] |
Chr5:132589495 [GRCh38]
Chr5:131925187 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1453-203C>G |
single nucleotide variant |
not provided [RCV001596828] |
Chr5:132591021 [GRCh38]
Chr5:131926713 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3752+630C>T |
single nucleotide variant |
not provided [RCV001652211] |
Chr5:132641435 [GRCh38]
Chr5:131977127 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3036+242T>C |
single nucleotide variant |
not provided [RCV001654536] |
Chr5:132609638 [GRCh38]
Chr5:131945330 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1704A>G (p.Gly568=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001907749] |
Chr5:132591945 [GRCh38]
Chr5:131927637 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3165-252A>G |
single nucleotide variant |
not provided [RCV001718077] |
Chr5:132617818 [GRCh38]
Chr5:131953510 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3475+176T>C |
single nucleotide variant |
not provided [RCV001639922] |
Chr5:132637376 [GRCh38]
Chr5:131973068 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3618+265del |
deletion |
not provided [RCV001683841] |
Chr5:132638486 [GRCh38]
Chr5:131974178 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.551+123T>C |
single nucleotide variant |
not provided [RCV001714431] |
Chr5:132579625 [GRCh38]
Chr5:131915317 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1246-149A>C |
single nucleotide variant |
not provided [RCV001714437] |
Chr5:132589482 [GRCh38]
Chr5:131925174 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1218G>A (p.Gly406=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010382] |
Chr5:132588853 [GRCh38]
Chr5:131924545 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-4T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016392] |
Chr5:132608611 [GRCh38]
Chr5:131944303 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1536A>G (p.Ala512=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001407836] |
Chr5:132591307 [GRCh38]
Chr5:131926999 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2838T>C (p.Asp946=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001453321] |
Chr5:132609125 [GRCh38]
Chr5:131944817 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3531T>C (p.Asp1177=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000938453] |
Chr5:132638136 [GRCh38]
Chr5:131973828 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.555C>T (p.Tyr185=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001446218] |
Chr5:132579865 [GRCh38]
Chr5:131915557 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-8T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001477810] |
Chr5:132559276 [GRCh38]
Chr5:131894968 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+9G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000980667] |
Chr5:132609405 [GRCh38]
Chr5:131945097 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-8A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001457827] |
Chr5:132587554 [GRCh38]
Chr5:131923246 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1065G>A (p.Leu355=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000977854] |
Chr5:132588700 [GRCh38]
Chr5:131924392 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001430933] |
Chr5:132642169 [GRCh38]
Chr5:131977861 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-8dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000919983]|not provided [RCV004997497] |
Chr5:132591868..132591869 [GRCh38]
Chr5:131927560..131927561 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.81C>T (p.Phe27=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001483431] |
Chr5:132557405 [GRCh38]
Chr5:131893097 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.570A>G (p.Glu190=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001489259] |
Chr5:132579880 [GRCh38]
Chr5:131915572 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1179T>A (p.Ile393=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001475601] |
Chr5:132588814 [GRCh38]
Chr5:131924506 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-10T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000875587] |
Chr5:132609107 [GRCh38]
Chr5:131944799 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1773G>A (p.Arg591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001503208] |
Chr5:132592014 [GRCh38]
Chr5:131927706 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+7_3752+9dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000872297]|Nijmegen breakage syndrome-like disorder [RCV002258018] |
Chr5:132640811..132640812 [GRCh38]
Chr5:131976503..131976504 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+7G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001505458] |
Chr5:132559374 [GRCh38]
Chr5:131895066 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.964T>C (p.Leu322=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019588] |
Chr5:132588002 [GRCh38]
Chr5:131923694 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.435G>A (p.Gly145=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022354] |
Chr5:132579386 [GRCh38]
Chr5:131915078 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.885+10G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001468525]|RAD50-related disorder [RCV003897998] |
Chr5:132587700 [GRCh38]
Chr5:131923392 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3777G>A (p.Gln1259=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001435439]|not provided [RCV004997504] |
Chr5:132642202 [GRCh38]
Chr5:131977894 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1471G>T (p.Ala491Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001229733] |
Chr5:132591242 [GRCh38]
Chr5:131926934 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2248T>A (p.Leu750Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001221927] |
Chr5:132603340 [GRCh38]
Chr5:131939032 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2123C>T (p.Ala708Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001218668] |
Chr5:132595726 [GRCh38]
Chr5:131931418 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.94A>G (p.Thr32Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001226217] |
Chr5:132557418 [GRCh38]
Chr5:131893110 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3142A>G (p.Met1048Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001247363] |
Chr5:132616108 [GRCh38]
Chr5:131951800 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001035395]|Nijmegen breakage syndrome-like disorder [RCV003467702] |
Chr5:132588873..132588876 [GRCh38]
Chr5:131924565..131924568 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.203A>C (p.His68Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001222328] |
Chr5:132559357 [GRCh38]
Chr5:131895049 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.583G>A (p.Val195Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001222373] |
Chr5:132579893 [GRCh38]
Chr5:131915585 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129G>A (p.Thr43=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001242429] |
Chr5:132557453 [GRCh38]
Chr5:131893145 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2404C>A (p.Leu802Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001242432] |
Chr5:132603926 [GRCh38]
Chr5:131939618 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.425G>A (p.Ser142Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001219081] |
Chr5:132579376 [GRCh38]
Chr5:131915068 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3535A>G (p.Arg1179Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001242809] |
Chr5:132638140 [GRCh38]
Chr5:131973832 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2327G>A (p.Gly776Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001244670] |
Chr5:132603419 [GRCh38]
Chr5:131939111 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2007C>A (p.Phe669Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001244674] |
Chr5:132595610 [GRCh38]
Chr5:131931302 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1811C>T (p.Ser604Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001219318] |
Chr5:132594886 [GRCh38]
Chr5:131930578 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3674G>A (p.Cys1225Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020857] |
Chr5:132640727 [GRCh38]
Chr5:131976419 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+6A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001214566] |
Chr5:132605005 [GRCh38]
Chr5:131940697 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.457A>G (p.Asn153Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001208268] |
Chr5:132579408 [GRCh38]
Chr5:131915100 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2087A>T (p.Glu696Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001245080] |
Chr5:132595690 [GRCh38]
Chr5:131931382 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3877A>T (p.Ile1293Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001245087] |
Chr5:132642302 [GRCh38]
Chr5:131977994 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3704C>A (p.Thr1235Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020929] |
Chr5:132640757 [GRCh38]
Chr5:131976449 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.366-3T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001205476] |
Chr5:132579314 [GRCh38]
Chr5:131915006 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3860A>G (p.Tyr1287Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001227360] |
Chr5:132642285 [GRCh38]
Chr5:131977977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.74T>C (p.Ile25Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001220080] |
Chr5:132557398 [GRCh38]
Chr5:131893090 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.528T>G (p.Phe176Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001208704] |
Chr5:132579479 [GRCh38]
Chr5:131915171 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1515_1516del (p.Ile505fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001227581] |
Chr5:132591286..132591287 [GRCh38]
Chr5:131926978..131926979 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3677G>A (p.Gly1226Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001240300] |
Chr5:132640730 [GRCh38]
Chr5:131976422 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1062G>C (p.Gln354His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001065812] |
Chr5:132588697 [GRCh38]
Chr5:131924389 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1075C>T (p.Arg359Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001051487]|Nijmegen breakage syndrome-like disorder [RCV003462549] |
Chr5:132588710 [GRCh38]
Chr5:131924402 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2834A>G (p.Asn945Ser) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 2 [RCV004813158]|Hereditary cancer-predisposing syndrome [RCV001220460] |
Chr5:132609121 [GRCh38]
Chr5:131944813 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2819C>T (p.Ala940Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001223964] |
Chr5:132608715 [GRCh38]
Chr5:131944407 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.449T>C (p.Val150Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001240507] |
Chr5:132579400 [GRCh38]
Chr5:131915092 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.322A>G (p.Lys108Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001240594] |
Chr5:132575885 [GRCh38]
Chr5:131911577 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2774A>G (p.Glu925Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001066332] |
Chr5:132608670 [GRCh38]
Chr5:131944362 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3397A>G (p.Met1133Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001227886] |
Chr5:132637122 [GRCh38]
Chr5:131972814 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2969G>A (p.Cys990Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001209433] |
Chr5:132609329 [GRCh38]
Chr5:131945021 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.112A>G (p.Asn38Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001237782] |
Chr5:132557436 [GRCh38]
Chr5:131893128 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.52G>T (p.Glu18Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001045434] |
Chr5:132557376 [GRCh38]
Chr5:131893068 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2693T>G (p.Val898Gly) |
single nucleotide variant |
not specified [RCV001194189] |
Chr5:132604974 [GRCh38]
Chr5:131940666 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1237C>G (p.Gln413Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234598] |
Chr5:132588872 [GRCh38]
Chr5:131924564 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1010G>A (p.Arg337Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001224838] |
Chr5:132588048 [GRCh38]
Chr5:131923740 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.926A>G (p.His309Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001224883] |
Chr5:132587964 [GRCh38]
Chr5:131923656 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.247C>A (p.Arg83Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001045678] |
Chr5:132575810 [GRCh38]
Chr5:131911502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2257A>C (p.Lys753Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001206475] |
Chr5:132603349 [GRCh38]
Chr5:131939041 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3224T>C (p.Leu1075Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019311] |
Chr5:132618129 [GRCh38]
Chr5:131953821 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132557315)_(132557463_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001031656] |
Chr5:131893007..131893155 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.624_627dup (p.Leu210fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001225216] |
Chr5:132579933..132579934 [GRCh38]
Chr5:131915625..131915626 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3475+4_3475+15del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001241672] |
Chr5:132637200..132637211 [GRCh38]
Chr5:131972892..131972903 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1603C>G (p.Arg535Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001241592] |
Chr5:132591374 [GRCh38]
Chr5:131927066 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132575767)_(132579512_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001032024] |
Chr5:131911459..131915204 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3316G>A (p.Glu1106Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019929]|not provided [RCV003478641] |
Chr5:132618221 [GRCh38]
Chr5:131953913 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.999_1002del (p.Asn333fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001019961]|RAD50-related disorder [RCV003396606] |
Chr5:132588033..132588036 [GRCh38]
Chr5:131923725..131923728 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.750A>G (p.Pro250=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000935523] |
Chr5:132580060 [GRCh38]
Chr5:131915752 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2322C>G (p.Leu774=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015187] |
Chr5:132603414 [GRCh38]
Chr5:131939106 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1017C>T (p.Leu339=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001452886] |
Chr5:132588055 [GRCh38]
Chr5:131923747 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1207A>C (p.Arg403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001495346] |
Chr5:132588842 [GRCh38]
Chr5:131924534 [GRCh37]
Chr5:5q31.1 |
likely benign |
| GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686) |
copy number loss |
Houge-Janssens syndrome 3 [RCV003236718] |
Chr5:127800418..134002686 [GRCh37]
Chr5:5q23.3-31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1115A>C (p.Gln372Pro) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV002258718] |
Chr5:132588750 [GRCh38]
Chr5:131924442 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2462T>C (p.Leu821Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003106709] |
Chr5:132603984 [GRCh38]
Chr5:131939676 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.407T>C (p.Ile136Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021823] |
Chr5:132579358 [GRCh38]
Chr5:131915050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.413G>C (p.Arg138Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021937] |
Chr5:132579364 [GRCh38]
Chr5:131915056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.547A>G (p.Thr183Ala) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030500]|Hereditary cancer-predisposing syndrome [RCV001248432] |
Chr5:132579498 [GRCh38]
Chr5:131915190 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.439T>G (p.Ser147Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022421] |
Chr5:132579390 [GRCh38]
Chr5:131915082 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3181G>C (p.Glu1061Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019040] |
Chr5:132618086 [GRCh38]
Chr5:131953778 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.451C>T (p.Leu151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022628] |
Chr5:132579402 [GRCh38]
Chr5:131915094 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3869A>C (p.Lys1290Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001043831]|Ovarian cancer [RCV003153904] |
Chr5:132642294 [GRCh38]
Chr5:131977986 [GRCh37]
Chr5:5q31.1 |
benign|uncertain significance |
| NM_005732.4(RAD50):c.3369T>C (p.Ile1123=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020109] |
Chr5:132618274 [GRCh38]
Chr5:131953966 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1774del (p.Asp592fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001066510]|Nijmegen breakage syndrome-like disorder [RCV003467834] |
Chr5:132592013 [GRCh38]
Chr5:131927705 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3387C>A (p.Asp1129Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020159] |
Chr5:132618292 [GRCh38]
Chr5:131953984 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3737C>T (p.Ala1246Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021004] |
Chr5:132640790 [GRCh38]
Chr5:131976482 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.504A>G (p.Glu168=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023472] |
Chr5:132579455 [GRCh38]
Chr5:131915147 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1174C>T (p.Gln392Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010131] |
Chr5:132588809 [GRCh38]
Chr5:131924501 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3164+250= |
single nucleotide variant |
not provided [RCV001723155] |
Chr5:132616380 [GRCh38]
Chr5:131952072 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1246-210A>G |
single nucleotide variant |
not provided [RCV001688662] |
Chr5:132589421 [GRCh38]
Chr5:131925113 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2524+166T>G |
single nucleotide variant |
not provided [RCV001608419] |
Chr5:132604212 [GRCh38]
Chr5:131939904 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2719-178G>A |
single nucleotide variant |
not provided [RCV001716969] |
Chr5:132608437 [GRCh38]
Chr5:131944129 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.423del (p.Ser142fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001022116] |
Chr5:132579374 [GRCh38]
Chr5:131915066 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1793+313T>C |
single nucleotide variant |
not provided [RCV001714920] |
Chr5:132592347 [GRCh38]
Chr5:131928039 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3475+24A>G |
single nucleotide variant |
not provided [RCV001657656] |
Chr5:132637224 [GRCh38]
Chr5:131972916 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3165-335C>T |
single nucleotide variant |
not provided [RCV001694563] |
Chr5:132617735 [GRCh38]
Chr5:131953427 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3724A>G (p.Ile1242Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020977] |
Chr5:132640777 [GRCh38]
Chr5:131976469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3742G>A (p.Ala1248Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021021] |
Chr5:132640795 [GRCh38]
Chr5:131976487 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.443A>T (p.Lys148Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022478] |
Chr5:132579394 [GRCh38]
Chr5:131915086 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.450G>T (p.Val150=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022611] |
Chr5:132579401 [GRCh38]
Chr5:131915093 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-295T>C |
single nucleotide variant |
not provided [RCV001613637] |
Chr5:132579022 [GRCh38]
Chr5:131914714 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3809A>T (p.Asp1270Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021200] |
Chr5:132642234 [GRCh38]
Chr5:131977926 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.380T>C (p.Val127Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021208] |
Chr5:132579331 [GRCh38]
Chr5:131915023 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3883C>T (p.Gln1295Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021350] |
Chr5:132642308 [GRCh38]
Chr5:131978000 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+140A>G |
single nucleotide variant |
not provided [RCV001669991] |
Chr5:132616270 [GRCh38]
Chr5:131951962 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.706T>C (p.Ser236Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026001] |
Chr5:132580016 [GRCh38]
Chr5:131915708 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1727T>G (p.Leu576Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012909] |
Chr5:132591968 [GRCh38]
Chr5:131927660 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.726A>G (p.Lys242=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026214] |
Chr5:132580036 [GRCh38]
Chr5:131915728 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1090A>G (p.Ile364Val) |
single nucleotide variant |
Familial cancer of breast [RCV001090213]|Hereditary cancer-predisposing syndrome [RCV003584836] |
Chr5:132588725 [GRCh38]
Chr5:131924417 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1928A>T (p.Asp643Val) |
single nucleotide variant |
Familial cancer of breast [RCV001090214] |
Chr5:132595003 [GRCh38]
Chr5:131930695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1753A>G (p.Lys585Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013013] |
Chr5:132591994 [GRCh38]
Chr5:131927686 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001026257]|Nijmegen breakage syndrome-like disorder [RCV003467688] |
Chr5:132580040..132580041 [GRCh38]
Chr5:131915732..131915733 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1772G>A (p.Arg591Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013064] |
Chr5:132592013 [GRCh38]
Chr5:131927705 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1789T>G (p.Leu597Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013155] |
Chr5:132592030 [GRCh38]
Chr5:131927722 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1840G>C (p.Glu614Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013365] |
Chr5:132594915 [GRCh38]
Chr5:131930607 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.765A>G (p.Leu255=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026675] |
Chr5:132587570 [GRCh38]
Chr5:131923262 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1881C>G (p.Asp627Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013488] |
Chr5:132594956 [GRCh38]
Chr5:131930648 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1882A>G (p.Lys628Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013508] |
Chr5:132594957 [GRCh38]
Chr5:131930649 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1897T>G (p.Cys633Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013532] |
Chr5:132594972 [GRCh38]
Chr5:131930664 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3543T>C (p.Asn1181=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020567] |
Chr5:132638148 [GRCh38]
Chr5:131973840 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2036C>T (p.Ser679Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014094] |
Chr5:132595639 [GRCh38]
Chr5:131931331 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1199T>G (p.Val400Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001210841] |
Chr5:132588834 [GRCh38]
Chr5:131924526 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1858G>A (p.Glu620Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001035161] |
Chr5:132594933 [GRCh38]
Chr5:131930625 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3566T>C (p.Leu1189Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020627] |
Chr5:132638171 [GRCh38]
Chr5:131973863 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.203A>G (p.His68Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014164] |
Chr5:132559357 [GRCh38]
Chr5:131895049 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2058_2059del (p.Arg686fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001014262] |
Chr5:132595657..132595658 [GRCh38]
Chr5:131931349..131931350 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.543A>G (p.Ser181=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024104] |
Chr5:132579494 [GRCh38]
Chr5:131915186 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2083C>G (p.Gln695Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014367] |
Chr5:132595686 [GRCh38]
Chr5:131931378 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.366-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020835] |
Chr5:132579312 [GRCh38]
Chr5:131915004 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2766C>G (p.Phe922Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001036164] |
Chr5:132608662 [GRCh38]
Chr5:131944354 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.534G>A (p.Glu178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023963] |
Chr5:132579485 [GRCh38]
Chr5:131915177 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.126G>C (p.Lys42Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010674] |
Chr5:132557450 [GRCh38]
Chr5:131893142 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.222A>G (p.Gln74=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014819] |
Chr5:132575785 [GRCh38]
Chr5:131911477 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2251A>C (p.Arg751=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014936] |
Chr5:132603343 [GRCh38]
Chr5:131939035 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2287C>A (p.Arg763Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015068] |
Chr5:132603379 [GRCh38]
Chr5:131939071 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1455A>T (p.Glu485Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001044001]|RAD50-related disorder [RCV003405240] |
Chr5:132591226 [GRCh38]
Chr5:131926918 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2023_2024delinsTT (p.Asp675Phe) |
indel |
Hereditary cancer-predisposing syndrome [RCV001044196] |
Chr5:132595626..132595627 [GRCh38]
Chr5:131931318..131931319 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3838T>C (p.Ser1280Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001044197]|Nijmegen breakage syndrome-like disorder [RCV003467733] |
Chr5:132642263 [GRCh38]
Chr5:131977955 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.561A>T (p.Lys187Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001050732] |
Chr5:132579871 [GRCh38]
Chr5:131915563 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2309A>G (p.Glu770Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015155] |
Chr5:132603401 [GRCh38]
Chr5:131939093 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2332A>C (p.Ile778Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015211]|Nijmegen breakage syndrome-like disorder [RCV005036287] |
Chr5:132603424 [GRCh38]
Chr5:131939116 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2375T>C (p.Val792Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015343] |
Chr5:132603467 [GRCh38]
Chr5:131939159 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2411A>G (p.Asp804Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015447] |
Chr5:132603933 [GRCh38]
Chr5:131939625 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.246T>C (p.Ile82=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015464] |
Chr5:132575809 [GRCh38]
Chr5:131911501 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015817] |
Chr5:132604047 [GRCh38]
Chr5:131939739 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2527T>C (p.Ser843Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015842] |
Chr5:132604808 [GRCh38]
Chr5:131940500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2565C>A (p.Asp855Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015966] |
Chr5:132604846 [GRCh38]
Chr5:131940538 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2578A>T (p.Ile860Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015999] |
Chr5:132604859 [GRCh38]
Chr5:131940551 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1304A>G (p.Lys435Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010870] |
Chr5:132589689 [GRCh38]
Chr5:131925381 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2660T>C (p.Leu887Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016146] |
Chr5:132604941 [GRCh38]
Chr5:131940633 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2707A>G (p.Arg903Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016241] |
Chr5:132604988 [GRCh38]
Chr5:131940680 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2837A>G (p.Asp946Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016571]|not provided [RCV004998546] |
Chr5:132609124 [GRCh38]
Chr5:131944816 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.280_282delinsCTG (p.Ile94Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV001016645] |
Chr5:132575843..132575845 [GRCh38]
Chr5:131911535..131911537 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2812A>G (p.Lys938Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016660] |
Chr5:132608708 [GRCh38]
Chr5:131944400 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1361A>C (p.Gln454Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011126] |
Chr5:132589746 [GRCh38]
Chr5:131925438 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1381A>T (p.Lys461Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011283]|RAD50-related disorder [RCV003413801] |
Chr5:132589766 [GRCh38]
Chr5:131925458 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1392A>T (p.Leu464Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011303]|not provided [RCV004693441] |
Chr5:132589777 [GRCh38]
Chr5:131925469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.594A>G (p.Thr198=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024713] |
Chr5:132579904 [GRCh38]
Chr5:131915596 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2848A>G (p.Lys950Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016777] |
Chr5:132609135 [GRCh38]
Chr5:131944827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2861T>C (p.Ile954Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016814] |
Chr5:132609148 [GRCh38]
Chr5:131944840 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2862T>C (p.Ile954=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016817] |
Chr5:132609149 [GRCh38]
Chr5:131944841 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2866_2871del (p.Gly956_Tyr957del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001016828] |
Chr5:132609151..132609156 [GRCh38]
Chr5:131944843..131944848 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2876_2877del (p.Lys959fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001016869] |
Chr5:132609162..132609163 [GRCh38]
Chr5:131944854..131944855 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2915A>G (p.Tyr972Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016920] |
Chr5:132609202 [GRCh38]
Chr5:131944894 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1027A>G (p.Lys343Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017021] |
Chr5:132588065 [GRCh38]
Chr5:131923757 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1073A>T (p.Asp358Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017212] |
Chr5:132588708 [GRCh38]
Chr5:131924400 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1081C>T (p.Gln361Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017217] |
Chr5:132588716 [GRCh38]
Chr5:131924408 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1091T>C (p.Ile364Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017253] |
Chr5:132588726 [GRCh38]
Chr5:131924418 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1097C>A (p.Ala366Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017274] |
Chr5:132588732 [GRCh38]
Chr5:131924424 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3599G>C (p.Arg1200Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001068310] |
Chr5:132638204 [GRCh38]
Chr5:131973896 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132557325)_(132557463_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001033378] |
Chr5:131893017..131893155 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1487A>G (p.Asn496Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011826] |
Chr5:132591258 [GRCh38]
Chr5:131926950 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2944A>G (p.Lys982Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017619] |
Chr5:132609304 [GRCh38]
Chr5:131944996 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2952del (p.Ile984fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001017634] |
Chr5:132609312 [GRCh38]
Chr5:131945004 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3007C>T (p.Leu1003Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018015] |
Chr5:132609367 [GRCh38]
Chr5:131945059 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.302T>C (p.Val101Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018188] |
Chr5:132575865 [GRCh38]
Chr5:131911557 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3048G>A (p.Arg1016=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018292] |
Chr5:132616014 [GRCh38]
Chr5:131951706 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3051G>C (p.Trp1017Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018328] |
Chr5:132616017 [GRCh38]
Chr5:131951709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3055C>T (p.Gln1019Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018334] |
Chr5:132616021 [GRCh38]
Chr5:131951713 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.886-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018421] |
Chr5:132587923 [GRCh38]
Chr5:131923615 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.886-3C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018422] |
Chr5:132587921 [GRCh38]
Chr5:131923613 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132603910)_(132618304_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001033838] |
Chr5:131939602..131953996 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1635+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012387] |
Chr5:132591411 [GRCh38]
Chr5:131927103 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1611A>T (p.Gln537His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012414] |
Chr5:132591382 [GRCh38]
Chr5:131927074 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.686G>A (p.Ser229Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025751]|Nijmegen breakage syndrome-like disorder [RCV005047215] |
Chr5:132579996 [GRCh38]
Chr5:131915688 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3113G>T (p.Arg1038Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018703] |
Chr5:132616079 [GRCh38]
Chr5:131951771 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.950A>G (p.Glu317Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019434] |
Chr5:132587988 [GRCh38]
Chr5:131923680 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.(?_132575767)_(132604056_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001033137] |
Chr5:131911459..131939748 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1159C>G (p.Pro387Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010045] |
Chr5:132588794 [GRCh38]
Chr5:131924486 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3884A>G (p.Gln1295Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001049827] |
Chr5:132642309 [GRCh38]
Chr5:131978001 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.409G>C (p.Asp137His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001071601] |
Chr5:132579360 [GRCh38]
Chr5:131915052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.365+227G>C |
single nucleotide variant |
not provided [RCV001533803] |
Chr5:132576155 [GRCh38]
Chr5:131911847 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1210C>T (p.Gln404Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010338] |
Chr5:132588845 [GRCh38]
Chr5:131924537 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.432T>G (p.Leu144=) |
single nucleotide variant |
not provided [RCV001678650] |
Chr5:132579383 [GRCh38]
Chr5:131915075 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3618+148T>A |
single nucleotide variant |
not provided [RCV001680905] |
Chr5:132638371 [GRCh38]
Chr5:131974063 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2532T>A (p.Ser844Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001050202] |
Chr5:132604813 [GRCh38]
Chr5:131940505 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+62A>G |
single nucleotide variant |
not provided [RCV001611341] |
Chr5:132637262 [GRCh38]
Chr5:131972954 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1287_1290del (p.Ile429fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001010764] |
Chr5:132589668..132589671 [GRCh38]
Chr5:131925360..131925363 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3389+96T>C |
single nucleotide variant |
not provided [RCV001692499] |
Chr5:132618390 [GRCh38]
Chr5:131954082 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3476-110T>C |
single nucleotide variant |
not provided [RCV001538156] |
Chr5:132637971 [GRCh38]
Chr5:131973663 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3475+285A>G |
single nucleotide variant |
not provided [RCV001695828] |
Chr5:132637485 [GRCh38]
Chr5:131973177 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.129+184T>C |
single nucleotide variant |
not provided [RCV001690497] |
Chr5:132557637 [GRCh38]
Chr5:131893329 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1793+22T>C |
single nucleotide variant |
not provided [RCV001614629] |
Chr5:132592056 [GRCh38]
Chr5:131927748 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.300G>C (p.Met100Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001045325] |
Chr5:132575863 [GRCh38]
Chr5:131911555 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1870A>G (p.Ser624Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001048509] |
Chr5:132594945 [GRCh38]
Chr5:131930637 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3205A>G (p.Arg1069Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019209]|Nijmegen breakage syndrome-like disorder [RCV003141932] |
Chr5:132618110 [GRCh38]
Chr5:131953802 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+131C>T |
single nucleotide variant |
not provided [RCV001714463] |
Chr5:132605130 [GRCh38]
Chr5:131940822 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3889T>C (p.Ser1297Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234336] |
Chr5:132642314 [GRCh38]
Chr5:131978006 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.796A>G (p.Met266Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027012] |
Chr5:132587601 [GRCh38]
Chr5:131923293 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1549A>G (p.Thr517Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234496] |
Chr5:132591320 [GRCh38]
Chr5:131927012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.212A>T (p.Lys71Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001208475] |
Chr5:132559366 [GRCh38]
Chr5:131895058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1136A>G (p.Glu379Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001049311] |
Chr5:132588771 [GRCh38]
Chr5:131924463 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+6A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001060102] |
Chr5:132591412 [GRCh38]
Chr5:131927104 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2597CAA[1] (p.Thr867del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001060103] |
Chr5:132604877..132604879 [GRCh38]
Chr5:131940569..131940571 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1967G>T (p.Arg656Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001203827] |
Chr5:132595042 [GRCh38]
Chr5:131930734 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3269A>G (p.Lys1090Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001214790] |
Chr5:132618174 [GRCh38]
Chr5:131953866 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2946del (p.Lys982_Val983insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001217733] |
Chr5:132609304 [GRCh38]
Chr5:131944996 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3655G>T (p.Glu1219Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234739]|Nijmegen breakage syndrome-like disorder [RCV003462797] |
Chr5:132640708 [GRCh38]
Chr5:131976400 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2033_2034dup (p.Cys680fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001014150] |
Chr5:132595635..132595636 [GRCh38]
Chr5:131931327..131931328 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.824T>G (p.Leu275Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027322] |
Chr5:132587629 [GRCh38]
Chr5:131923321 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.205G>T (p.Asp69Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014273] |
Chr5:132559359 [GRCh38]
Chr5:131895051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2440G>A (p.Ala814Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001060838] |
Chr5:132603962 [GRCh38]
Chr5:131939654 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2082A>G (p.Leu694=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014365] |
Chr5:132595685 [GRCh38]
Chr5:131931377 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2161A>C (p.Lys721Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014491] |
Chr5:132595764 [GRCh38]
Chr5:131931456 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2165A>G (p.Lys722Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014660] |
Chr5:132595768 [GRCh38]
Chr5:131931460 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1339T>C (p.Ser447Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001236850] |
Chr5:132589724 [GRCh38]
Chr5:131925416 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1978G>A (p.Ala660Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001072026] |
Chr5:132595581 [GRCh38]
Chr5:131931273 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1180A>C (p.Lys394Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010160]|Nijmegen breakage syndrome-like disorder [RCV005036278] |
Chr5:132588815 [GRCh38]
Chr5:131924507 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2187G>A (p.Met729Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014701] |
Chr5:132595790 [GRCh38]
Chr5:131931482 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2209C>T (p.Gln737Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014791] |
Chr5:132603301 [GRCh38]
Chr5:131938993 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2476C>T (p.Gln826Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053003] |
Chr5:132603998 [GRCh38]
Chr5:131939690 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3667C>T (p.Leu1223Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053005] |
Chr5:132640720 [GRCh38]
Chr5:131976412 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2242C>A (p.Pro748Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001042793] |
Chr5:132603334 [GRCh38]
Chr5:131939026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2750C>A (p.Thr917Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001061167] |
Chr5:132608646 [GRCh38]
Chr5:131944338 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1229C>T (p.Thr410Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010444] |
Chr5:132588864 [GRCh38]
Chr5:131924556 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2851G>T (p.Val951Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001057354] |
Chr5:132609138 [GRCh38]
Chr5:131944830 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.760C>A (p.Arg254Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001061537] |
Chr5:132587565 [GRCh38]
Chr5:131923257 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3235_3238del (p.Lys1079fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001039368] |
Chr5:132618138..132618141 [GRCh38]
Chr5:131953830..131953833 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.14A>G (p.Glu5Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001039413] |
Chr5:132557338 [GRCh38]
Chr5:131893030 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.410A>T (p.Asp137Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053668] |
Chr5:132579361 [GRCh38]
Chr5:131915053 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3256A>G (p.Ile1086Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053689] |
Chr5:132618161 [GRCh38]
Chr5:131953853 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1284G>C (p.Gln428His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010749] |
Chr5:132589669 [GRCh38]
Chr5:131925361 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1259A>T (p.Glu420Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001216621] |
Chr5:132589644 [GRCh38]
Chr5:131925336 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1666A>G (p.Lys556Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001237024] |
Chr5:132591907 [GRCh38]
Chr5:131927599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2264A>C (p.Gln755Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053732] |
Chr5:132603356 [GRCh38]
Chr5:131939048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024210]|Nijmegen breakage syndrome-like disorder [RCV001784561] |
Chr5:132579504 [GRCh38]
Chr5:131915196 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.909A>C (p.Gln303His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001216777] |
Chr5:132587947 [GRCh38]
Chr5:131923639 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2072_2073del (p.Glu691fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001231539] |
Chr5:132595673..132595674 [GRCh38]
Chr5:131931365..131931366 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1035A>C (p.Glu345Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001037001] |
Chr5:132588073 [GRCh38]
Chr5:131923765 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.32_33delinsAA (p.Gly11Glu) |
indel |
Hereditary cancer-predisposing syndrome [RCV001039902] |
Chr5:132557356..132557357 [GRCh38]
Chr5:131893048..131893049 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.534G>C (p.Glu178Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058289] |
Chr5:132579485 [GRCh38]
Chr5:131915177 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.576del (p.Arg193fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001024509] |
Chr5:132579885 [GRCh38]
Chr5:131915577 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1730A>C (p.Glu577Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001230545] |
Chr5:132591971 [GRCh38]
Chr5:131927663 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3160A>G (p.Lys1054Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001040082] |
Chr5:132616126 [GRCh38]
Chr5:131951818 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2702T>C (p.Leu901Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058412]|Nijmegen breakage syndrome-like disorder [RCV004570232] |
Chr5:132604983 [GRCh38]
Chr5:131940675 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.544G>A (p.Ala182Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058472] |
Chr5:132579495 [GRCh38]
Chr5:131915187 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3578_3579dup (p.Ala1194fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001233277] |
Chr5:132638179..132638180 [GRCh38]
Chr5:131973871..131973872 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1415A>G (p.Asp472Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011456] |
Chr5:132589800 [GRCh38]
Chr5:131925492 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.224A>G (p.Glu75Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001205125] |
Chr5:132575787 [GRCh38]
Chr5:131911479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.624G>A (p.Met208Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025044] |
Chr5:132579934 [GRCh38]
Chr5:131915626 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2918A>G (p.Lys973Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001218010] |
Chr5:132609205 [GRCh38]
Chr5:131944897 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001206866]|Nijmegen breakage syndrome-like disorder [RCV004570442]|not specified [RCV002298903] |
Chr5:132595005 [GRCh38]
Chr5:131930697 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3773A>G (p.Gln1258Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001219310] |
Chr5:132642198 [GRCh38]
Chr5:131977890 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1106C>T (p.Ser369Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001207973]|Nijmegen breakage syndrome-like disorder [RCV003142137] |
Chr5:132588741 [GRCh38]
Chr5:131924433 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1327A>G (p.Ile443Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001207998] |
Chr5:132589712 [GRCh38]
Chr5:131925404 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1751C>T (p.Ser584Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001207016] |
Chr5:132591992 [GRCh38]
Chr5:131927684 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3482A>G (p.Glu1161Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001218327] |
Chr5:132638087 [GRCh38]
Chr5:131973779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2947G>A (p.Val983Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001054910] |
Chr5:132609307 [GRCh38]
Chr5:131944999 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3735T>A (p.Leu1245=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001058955] |
Chr5:132640788 [GRCh38]
Chr5:131976480 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1511T>C (p.Val504Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011972] |
Chr5:132591282 [GRCh38]
Chr5:131926974 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.649A>G (p.Lys217Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025334] |
Chr5:132579959 [GRCh38]
Chr5:131915651 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1574T>G (p.Met525Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012222] |
Chr5:132591345 [GRCh38]
Chr5:131927037 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.664G>A (p.Glu222Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025500] |
Chr5:132579974 [GRCh38]
Chr5:131915666 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1141G>T (p.Asp381Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001228376] |
Chr5:132588776 [GRCh38]
Chr5:131924468 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3503A>T (p.Asp1168Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001207002] |
Chr5:132638108 [GRCh38]
Chr5:131973800 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1595C>A (p.Thr532Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012319] |
Chr5:132591366 [GRCh38]
Chr5:131927058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.682A>G (p.Thr228Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025698] |
Chr5:132579992 [GRCh38]
Chr5:131915684 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.164G>C (p.Gly55Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012571] |
Chr5:132559318 [GRCh38]
Chr5:131895010 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1653A>G (p.Gln551=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012594] |
Chr5:132591894 [GRCh38]
Chr5:131927586 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1674G>T (p.Arg558Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012606] |
Chr5:132591915 [GRCh38]
Chr5:131927607 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1664T>A (p.Ile555Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012645] |
Chr5:132591905 [GRCh38]
Chr5:131927597 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.358A>G (p.Arg120Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001208185] |
Chr5:132575921 [GRCh38]
Chr5:131911613 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.967G>T (p.Val323Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052384] |
Chr5:132588005 [GRCh38]
Chr5:131923697 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001041015] |
Chr5:132595049 [GRCh38]
Chr5:131930741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2786dup (p.Leu929fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001059550] |
Chr5:132608680..132608681 [GRCh38]
Chr5:131944372..131944373 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1685A>G (p.Glu562Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012724]|Nijmegen breakage syndrome-like disorder [RCV005036285] |
Chr5:132591926 [GRCh38]
Chr5:131927618 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1717A>C (p.Lys573Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012829] |
Chr5:132591958 [GRCh38]
Chr5:131927650 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.715del (p.Glu239fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001026096] |
Chr5:132580024 [GRCh38]
Chr5:131915716 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1737G>T (p.Trp579Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012926]|not provided [RCV004998535] |
Chr5:132591978 [GRCh38]
Chr5:131927670 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1747A>G (p.Lys583Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012966] |
Chr5:132591988 [GRCh38]
Chr5:131927680 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1906C>A (p.Gln636Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001234076] |
Chr5:132594981 [GRCh38]
Chr5:131930673 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1743T>C (p.His581=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012983] |
Chr5:132591984 [GRCh38]
Chr5:131927676 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1803A>C (p.Leu601=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013237] |
Chr5:132594878 [GRCh38]
Chr5:131930570 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1791G>T (p.Leu597Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013186] |
Chr5:132592032 [GRCh38]
Chr5:131927724 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1813G>T (p.Glu605Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013282] |
Chr5:132594888 [GRCh38]
Chr5:131930580 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2194C>T (p.Leu732Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001211456] |
Chr5:132595797 [GRCh38]
Chr5:131931489 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1963C>T (p.Gln655Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001039714] |
Chr5:132595038 [GRCh38]
Chr5:131930730 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3733C>T (p.Leu1245Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001228791] |
Chr5:132640786 [GRCh38]
Chr5:131976478 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001063994]|Nijmegen breakage syndrome-like disorder [RCV002298865]|See cases [RCV002252308] |
Chr5:132609304 [GRCh38]
Chr5:131944996 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3458G>A (p.Ser1153Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001063996] |
Chr5:132637183 [GRCh38]
Chr5:131972875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1902T>C (p.Gly634=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013626] |
Chr5:132594977 [GRCh38]
Chr5:131930669 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1908G>A (p.Gln636=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013649] |
Chr5:132594983 [GRCh38]
Chr5:131930675 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2517A>T (p.Leu839Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053993] |
Chr5:132604039 [GRCh38]
Chr5:131939731 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1840G>A (p.Glu614Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001064171] |
Chr5:132594915 [GRCh38]
Chr5:131930607 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2862_2865del (p.Ile954fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001064311] |
Chr5:132609147..132609150 [GRCh38]
Chr5:131944839..131944842 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3753-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021054] |
Chr5:132642175 [GRCh38]
Chr5:131977867 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1953del (p.Lys651fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001013823] |
Chr5:132595024 [GRCh38]
Chr5:131930716 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.-1C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013986] |
Chr5:132557324 [GRCh38]
Chr5:131893016 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2000C>G (p.Ser667Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014046] |
Chr5:132595603 [GRCh38]
Chr5:131931295 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2019A>G (p.Leu673=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014068] |
Chr5:132595622 [GRCh38]
Chr5:131931314 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2034_2037dup (p.Cys680fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001014086] |
Chr5:132595634..132595635 [GRCh38]
Chr5:131931326..131931327 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2173C>G (p.Arg725Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001247225] |
Chr5:132595776 [GRCh38]
Chr5:131931468 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.685A>C (p.Ser229Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001054264] |
Chr5:132579995 [GRCh38]
Chr5:131915687 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1397A>G (p.Gln466Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001064535] |
Chr5:132589782 [GRCh38]
Chr5:131925474 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3800T>A (p.Ile1267Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021189] |
Chr5:132642225 [GRCh38]
Chr5:131977917 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3857T>A (p.Phe1286Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021299] |
Chr5:132642282 [GRCh38]
Chr5:131977974 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3858C>A (p.Phe1286Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021301] |
Chr5:132642283 [GRCh38]
Chr5:131977975 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1546A>G (p.Arg516Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001203608]|Nijmegen breakage syndrome-like disorder [RCV004570427] |
Chr5:132591317 [GRCh38]
Chr5:131927009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.206A>G (p.Asp69Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014307] |
Chr5:132559360 [GRCh38]
Chr5:131895052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2083C>T (p.Gln695Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014368] |
Chr5:132595686 [GRCh38]
Chr5:131931378 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1583T>G (p.Leu528Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001229988] |
Chr5:132591354 [GRCh38]
Chr5:131927046 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1182A>G (p.Lys394=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010188] |
Chr5:132588817 [GRCh38]
Chr5:131924509 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2094C>G (p.Ile698Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014410] |
Chr5:132595697 [GRCh38]
Chr5:131931389 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2110A>C (p.Lys704Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014467] |
Chr5:132595713 [GRCh38]
Chr5:131931405 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2123C>G (p.Ala708Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014527] |
Chr5:132595726 [GRCh38]
Chr5:131931418 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1298G>A (p.Arg433Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001050720] |
Chr5:132589683 [GRCh38]
Chr5:131925375 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1257A>G (p.Ala419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010364] |
Chr5:132589642 [GRCh38]
Chr5:131925334 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1592A>C (p.His531Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001040557] |
Chr5:132591363 [GRCh38]
Chr5:131927055 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1182A>T (p.Lys394Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010189] |
Chr5:132588817 [GRCh38]
Chr5:131924509 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2197G>A (p.Val733Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014741]|Nijmegen breakage syndrome-like disorder [RCV003461343] |
Chr5:132595800 [GRCh38]
Chr5:131931492 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.222_230del (p.Gln74_Asp77delinsHis) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001014838] |
Chr5:132575784..132575792 [GRCh38]
Chr5:131911476..131911484 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2273A>C (p.Asn758Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014860] |
Chr5:132603365 [GRCh38]
Chr5:131939057 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2261T>A (p.Leu754Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014972] |
Chr5:132603353 [GRCh38]
Chr5:131939045 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2285A>G (p.Gln762Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015060] |
Chr5:132603377 [GRCh38]
Chr5:131939069 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2292A>G (p.Leu764=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015094] |
Chr5:132603384 [GRCh38]
Chr5:131939076 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.231T>C (p.Asp77=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015178] |
Chr5:132575794 [GRCh38]
Chr5:131911486 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2327G>C (p.Gly776Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015198] |
Chr5:132603419 [GRCh38]
Chr5:131939111 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010532] |
Chr5:132589629 [GRCh38]
Chr5:131925321 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1142A>G (p.Asp381Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001040854] |
Chr5:132588777 [GRCh38]
Chr5:131924469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.240C>T (p.Ala80=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015440] |
Chr5:132575803 [GRCh38]
Chr5:131911495 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2434C>G (p.Gln812Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015522] |
Chr5:132603956 [GRCh38]
Chr5:131939648 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.853G>A (p.Asp285Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001040979] |
Chr5:132587658 [GRCh38]
Chr5:131923350 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1235A>G (p.Asn412Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010478] |
Chr5:132588870 [GRCh38]
Chr5:131924562 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2538T>G (p.Ile846Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015803]|RAD50-related disorder [RCV003396604] |
Chr5:132604819 [GRCh38]
Chr5:131940511 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC |
indel |
Hereditary cancer-predisposing syndrome [RCV001016171] |
Chr5:132575826..132575975 [GRCh38]
Chr5:131911518..131911667 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1581G>T (p.Gln527His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001051403] |
Chr5:132591352 [GRCh38]
Chr5:131927044 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2683T>A (p.Ser895Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016318] |
Chr5:132604964 [GRCh38]
Chr5:131940656 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2755T>A (p.Leu919Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016512] |
Chr5:132608651 [GRCh38]
Chr5:131944343 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2780A>G (p.Glu927Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016590] |
Chr5:132608676 [GRCh38]
Chr5:131944368 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2782G>A (p.Glu928Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016595] |
Chr5:132608678 [GRCh38]
Chr5:131944370 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2818G>A (p.Ala940Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016673] |
Chr5:132608714 [GRCh38]
Chr5:131944406 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001055953] |
Chr5:132579351 [GRCh38]
Chr5:131915043 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001216061] |
Chr5:132591876 [GRCh38]
Chr5:131927568 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3239G>T (p.Gly1080Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001203698] |
Chr5:132618144 [GRCh38]
Chr5:131953836 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3125T>G (p.Leu1042Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001204433] |
Chr5:132616091 [GRCh38]
Chr5:131951783 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+2T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024209] |
Chr5:132579504 [GRCh38]
Chr5:131915196 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.12C>A (p.Ile4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010846] |
Chr5:132557336 [GRCh38]
Chr5:131893028 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2893A>G (p.Ile965Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016834] |
Chr5:132609180 [GRCh38]
Chr5:131944872 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1038G>T (p.Leu346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017106] |
Chr5:132588076 [GRCh38]
Chr5:131923768 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017135] |
Chr5:132588094 [GRCh38]
Chr5:131923786 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001041648] |
Chr5:132637205 [GRCh38]
Chr5:131972897 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.56A>G (p.Asp19Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024423] |
Chr5:132557380 [GRCh38]
Chr5:131893072 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1353_1356del (p.Ser451fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001011088] |
Chr5:132589734..132589737 [GRCh38]
Chr5:131925426..131925429 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.58A>G (p.Lys20Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024661] |
Chr5:132557382 [GRCh38]
Chr5:131893074 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1108T>G (p.Leu370Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017346] |
Chr5:132588743 [GRCh38]
Chr5:131924435 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+1G>A |
single nucleotide variant |
Breast and/or ovarian cancer [RCV001271001]|Hereditary cancer-predisposing syndrome [RCV001017508] |
Chr5:132609210 [GRCh38]
Chr5:131944902 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.294A>G (p.Arg98=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017625] |
Chr5:132575857 [GRCh38]
Chr5:131911549 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1111del (p.Ile371fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001231421] |
Chr5:132588745 [GRCh38]
Chr5:131924437 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1398G>T (p.Gln466His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011363] |
Chr5:132589783 [GRCh38]
Chr5:131925475 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1416C>T (p.Asp472=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011462] |
Chr5:132589801 [GRCh38]
Chr5:131925493 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1413A>T (p.Ser471=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011476] |
Chr5:132589798 [GRCh38]
Chr5:131925490 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3001A>C (p.Met1001Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017991] |
Chr5:132609361 [GRCh38]
Chr5:131945053 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.301_303dup (p.Val101dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001018053] |
Chr5:132575861..132575862 [GRCh38]
Chr5:131911553..131911554 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2356A>G (p.Lys786Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001062829] |
Chr5:132603448 [GRCh38]
Chr5:131939140 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1245+6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001062947] |
Chr5:132588886 [GRCh38]
Chr5:131924578 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+6T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001062951] |
Chr5:132609215 [GRCh38]
Chr5:131944907 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.861T>A (p.Ser287Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018096] |
Chr5:132587666 [GRCh38]
Chr5:131923358 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3023T>C (p.Ile1008Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018124] |
Chr5:132609383 [GRCh38]
Chr5:131945075 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.865C>T (p.Leu289=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018141] |
Chr5:132587670 [GRCh38]
Chr5:131923362 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3040C>T (p.Gln1014Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018253] |
Chr5:132616006 [GRCh38]
Chr5:131951698 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3041A>G (p.Gln1014Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018255] |
Chr5:132616007 [GRCh38]
Chr5:131951699 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.887T>C (p.Val296Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018449] |
Chr5:132587925 [GRCh38]
Chr5:131923617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018480] |
Chr5:132557412 [GRCh38]
Chr5:131893104 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1871G>A (p.Ser624Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001052497] |
Chr5:132594946 [GRCh38]
Chr5:131930638 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+3A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001056903] |
Chr5:132618297 [GRCh38]
Chr5:131953989 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.654A>G (p.Glu218=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025394] |
Chr5:132579964 [GRCh38]
Chr5:131915656 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1543G>A (p.Asp515Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012115] |
Chr5:132591314 [GRCh38]
Chr5:131927006 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1573A>G (p.Met525Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012213] |
Chr5:132591344 [GRCh38]
Chr5:131927036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.674A>G (p.Asp225Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025608] |
Chr5:132579984 [GRCh38]
Chr5:131915676 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.897del (p.Thr300fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001018583] |
Chr5:132587933 [GRCh38]
Chr5:131923625 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.89C>G (p.Pro30Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018618] |
Chr5:132557413 [GRCh38]
Chr5:131893105 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.730T>C (p.Tyr244His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001042842] |
Chr5:132580040 [GRCh38]
Chr5:131915732 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.139G>C (p.Glu47Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001214726] |
Chr5:132559293 [GRCh38]
Chr5:131894985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1616A>G (p.Glu539Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012428] |
Chr5:132591387 [GRCh38]
Chr5:131927079 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.694G>A (p.Ala232Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025838] |
Chr5:132580004 [GRCh38]
Chr5:131915696 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1679G>A (p.Ser560Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012617]|not provided [RCV003478615] |
Chr5:132591920 [GRCh38]
Chr5:131927612 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1364A>G (p.Asn455Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001053233] |
Chr5:132589749 [GRCh38]
Chr5:131925441 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2229G>C (p.Lys743Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001063429] |
Chr5:132603321 [GRCh38]
Chr5:131939013 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3040C>G (p.Gln1014Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001063589] |
Chr5:132616006 [GRCh38]
Chr5:131951698 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1150G>C (p.Glu384Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001229472]|not provided [RCV003478744] |
Chr5:132588785 [GRCh38]
Chr5:131924477 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.16A>G (p.Lys6Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012791] |
Chr5:132557340 [GRCh38]
Chr5:131893032 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1740A>G (p.Leu580=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012913] |
Chr5:132591981 [GRCh38]
Chr5:131927673 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.729C>T (p.Ser243=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026240] |
Chr5:132580039 [GRCh38]
Chr5:131915731 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1736G>T (p.Trp579Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001039491] |
Chr5:132591977 [GRCh38]
Chr5:131927669 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2456T>G (p.Ile819Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001063836] |
Chr5:132603978 [GRCh38]
Chr5:131939670 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3372T>G (p.Tyr1124Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020119] |
Chr5:132618277 [GRCh38]
Chr5:131953969 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3380C>A (p.Thr1127Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020146] |
Chr5:132618285 [GRCh38]
Chr5:131953977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389A>C (p.Gln1130Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020166] |
Chr5:132618294 [GRCh38]
Chr5:131953986 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2720A>C (p.Asp907Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001312861] |
Chr5:132608616 [GRCh38]
Chr5:131944308 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3908G>T (p.Ser1303Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001304018] |
Chr5:132642333 [GRCh38]
Chr5:131978025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2529T>C (p.Ser843=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001964353] |
Chr5:132604810 [GRCh38]
Chr5:131940502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2878G>A (p.Asp960Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001350337] |
Chr5:132609165 [GRCh38]
Chr5:131944857 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3753G>A (p.Glu1251=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315792] |
Chr5:132642178 [GRCh38]
Chr5:131977870 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3533A>C (p.Lys1178Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001327831] |
Chr5:132638138 [GRCh38]
Chr5:131973830 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.296C>G (p.Ser99Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307274] |
Chr5:132575859 [GRCh38]
Chr5:131911551 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1187T>G (p.Phe396Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318818] |
Chr5:132588822 [GRCh38]
Chr5:131924514 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2852T>C (p.Val951Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315966] |
Chr5:132609139 [GRCh38]
Chr5:131944831 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2530A>G (p.Ser844Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001301314] |
Chr5:132604811 [GRCh38]
Chr5:131940503 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3152T>C (p.Leu1051Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307425] |
Chr5:132616118 [GRCh38]
Chr5:131951810 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3632T>A (p.Leu1211His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001325025] |
Chr5:132640685 [GRCh38]
Chr5:131976377 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2198T>A (p.Val733Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001320546] |
Chr5:132595801 [GRCh38]
Chr5:131931493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2849A>G (p.Lys950Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001325915] |
Chr5:132609136 [GRCh38]
Chr5:131944828 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3746T>C (p.Leu1249Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001325518] |
Chr5:132640799 [GRCh38]
Chr5:131976491 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2185A>G (p.Met729Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307427] |
Chr5:132595788 [GRCh38]
Chr5:131931480 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3812A>G (p.Glu1271Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001299233] |
Chr5:132642237 [GRCh38]
Chr5:131977929 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1477A>G (p.Lys493Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001312361] |
Chr5:132591248 [GRCh38]
Chr5:131926940 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.61G>A (p.Asp21Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001348994] |
Chr5:132557385 [GRCh38]
Chr5:131893077 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2519A>G (p.Asp840Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315560] |
Chr5:132604041 [GRCh38]
Chr5:131939733 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1538A>T (p.Asp513Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001317693] |
Chr5:132591309 [GRCh38]
Chr5:131927001 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3785T>G (p.Phe1262Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306556] |
Chr5:132642210 [GRCh38]
Chr5:131977902 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885+6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001308799] |
Chr5:132587696 [GRCh38]
Chr5:131923388 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1040T>C (p.Leu347Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001294708] |
Chr5:132588078 [GRCh38]
Chr5:131923770 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.712A>G (p.Lys238Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001313238] |
Chr5:132580022 [GRCh38]
Chr5:131915714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2531G>A (p.Ser844Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001338073] |
Chr5:132604812 [GRCh38]
Chr5:131940504 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3894G>T (p.Glu1298Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001340036] |
Chr5:132642319 [GRCh38]
Chr5:131978011 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3364G>C (p.Asp1122His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001309681] |
Chr5:132618269 [GRCh38]
Chr5:131953961 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051G>T (p.Gly351Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001321394] |
Chr5:132588089 [GRCh38]
Chr5:131923781 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3799_3802dup (p.Thr1268fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001316012] |
Chr5:132642222..132642223 [GRCh38]
Chr5:131977914..131977915 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3307A>C (p.Lys1103Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001309152] |
Chr5:132618212 [GRCh38]
Chr5:131953904 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1813G>A (p.Glu605Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001302102] |
Chr5:132594888 [GRCh38]
Chr5:131930580 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.18G>C (p.Lys6Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001351543] |
Chr5:132557342 [GRCh38]
Chr5:131893034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2679A>T (p.Glu893Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306202] |
Chr5:132604960 [GRCh38]
Chr5:131940652 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3872_3893del (p.Lys1291fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001326046] |
Chr5:132642296..132642317 [GRCh38]
Chr5:131977988..131978009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2474T>A (p.Val825Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001343681] |
Chr5:132603996 [GRCh38]
Chr5:131939688 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3536G>A (p.Arg1179Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318465] |
Chr5:132638141 [GRCh38]
Chr5:131973833 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1301A>G (p.Asp434Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001350687] |
Chr5:132589686 [GRCh38]
Chr5:131925378 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1358A>G (p.Lys453Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001340668] |
Chr5:132589743 [GRCh38]
Chr5:131925435 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1549A>T (p.Thr517Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306535] |
Chr5:132591320 [GRCh38]
Chr5:131927012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1620G>A (p.Met540Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306572] |
Chr5:132591391 [GRCh38]
Chr5:131927083 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2880C>T (p.Asp960=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001414998] |
Chr5:132609167 [GRCh38]
Chr5:131944859 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.221A>C (p.Gln74Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001361480] |
Chr5:132575784 [GRCh38]
Chr5:131911476 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1111_1246-215dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001376089] |
Chr5:132588743..132588744 [GRCh38]
Chr5:131924435..131924436 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1319G>A (p.Gly440Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001367534] |
Chr5:132589704 [GRCh38]
Chr5:131925396 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2046C>G (p.Pro682=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001414741] |
Chr5:132595649 [GRCh38]
Chr5:131931341 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3580_3581delinsTT (p.Ala1194Phe) |
indel |
Hereditary cancer-predisposing syndrome [RCV001297780] |
Chr5:132638185..132638186 [GRCh38]
Chr5:131973877..131973878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2230G>C (p.Glu744Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001368159] |
Chr5:132603322 [GRCh38]
Chr5:131939014 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1384T>C (p.Tyr462His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001362446] |
Chr5:132589769 [GRCh38]
Chr5:131925461 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1452+10T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001421157] |
Chr5:132589847 [GRCh38]
Chr5:131925539 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1184A>C (p.Asn395Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001368474] |
Chr5:132588819 [GRCh38]
Chr5:131924511 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.973T>A (p.Cys325Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001298004] |
Chr5:132588011 [GRCh38]
Chr5:131923703 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3171T>G (p.His1057Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001369423]|RAD50-related disorder [RCV004731140] |
Chr5:132618076 [GRCh38]
Chr5:131953768 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.510G>A (p.Lys170=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001392007] |
Chr5:132579461 [GRCh38]
Chr5:131915153 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3329T>C (p.Val1110Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001305953] |
Chr5:132618234 [GRCh38]
Chr5:131953926 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3647C>T (p.Ala1216Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001359020] |
Chr5:132640700 [GRCh38]
Chr5:131976392 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+1dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001382764] |
Chr5:132579501..132579502 [GRCh38]
Chr5:131915193..131915194 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2283A>T (p.Ile761=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001433504] |
Chr5:132603375 [GRCh38]
Chr5:131939067 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1841A>T (p.Glu614Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001294366] |
Chr5:132594916 [GRCh38]
Chr5:131930608 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2720A>G (p.Asp907Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001313584] |
Chr5:132608616 [GRCh38]
Chr5:131944308 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.263A>T (p.Asp88Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001371613] |
Chr5:132575826 [GRCh38]
Chr5:131911518 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1395_1396delinsTT (p.Gln465_Gln466delinsHisTer) |
indel |
Hereditary cancer-predisposing syndrome [RCV001382603] |
Chr5:132589780..132589781 [GRCh38]
Chr5:131925472..131925473 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.197T>C (p.Phe66Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001349426] |
Chr5:132559351 [GRCh38]
Chr5:131895043 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.8G>A (p.Arg3Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001360998] |
Chr5:132557332 [GRCh38]
Chr5:131893024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1892A>G (p.Asp631Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001362132] |
Chr5:132594967 [GRCh38]
Chr5:131930659 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3618+9C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001392475] |
Chr5:132638232 [GRCh38]
Chr5:131973924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2808C>T (p.Ser936=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001321487] |
Chr5:132608704 [GRCh38]
Chr5:131944396 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.81C>G (p.Phe27Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001322743] |
Chr5:132557405 [GRCh38]
Chr5:131893097 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3748G>T (p.Val1250Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001344666] |
Chr5:132640801 [GRCh38]
Chr5:131976493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.733G>A (p.Glu245Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001345680] |
Chr5:132580043 [GRCh38]
Chr5:131915735 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2687C>G (p.Thr896Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001362568] |
Chr5:132604968 [GRCh38]
Chr5:131940660 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2315A>G (p.Glu772Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001343494] |
Chr5:132603407 [GRCh38]
Chr5:131939099 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2354C>T (p.Ala785Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001323885] |
Chr5:132603446 [GRCh38]
Chr5:131939138 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1391T>C (p.Leu464Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001321616] |
Chr5:132589776 [GRCh38]
Chr5:131925468 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.997A>C (p.Asn333His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001373828] |
Chr5:132588035 [GRCh38]
Chr5:131923727 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.173C>T (p.Pro58Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001373849] |
Chr5:132559327 [GRCh38]
Chr5:131895019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2425A>G (p.Ile809Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001369708] |
Chr5:132603947 [GRCh38]
Chr5:131939639 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.582G>T (p.Gln194His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001340674] |
Chr5:132579892 [GRCh38]
Chr5:131915584 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2215A>G (p.Ile739Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001300078] |
Chr5:132603307 [GRCh38]
Chr5:131938999 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389A>G (p.Gln1130Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318677] |
Chr5:132618294 [GRCh38]
Chr5:131953986 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1370T>C (p.Leu457Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001320185] |
Chr5:132589755 [GRCh38]
Chr5:131925447 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1631A>C (p.Asp544Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001343757] |
Chr5:132591402 [GRCh38]
Chr5:131927094 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3576C>G (p.Asp1192Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001343777] |
Chr5:132638181 [GRCh38]
Chr5:131973873 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1184A>G (p.Asn395Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001322997] |
Chr5:132588819 [GRCh38]
Chr5:131924511 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3811G>A (p.Glu1271Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001365058] |
Chr5:132642236 [GRCh38]
Chr5:131977928 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2092A>T (p.Ile698Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001294346] |
Chr5:132595695 [GRCh38]
Chr5:131931387 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2080T>G (p.Leu694Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001321989] |
Chr5:132595683 [GRCh38]
Chr5:131931375 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3814G>T (p.Asp1272Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001346926] |
Chr5:132642239 [GRCh38]
Chr5:131977931 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3059A>G (p.Asp1020Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001372092] |
Chr5:132616025 [GRCh38]
Chr5:131951717 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2654A>G (p.Gln885Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001294507] |
Chr5:132604935 [GRCh38]
Chr5:131940627 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1190A>G (p.His397Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307644] |
Chr5:132588825 [GRCh38]
Chr5:131924517 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3916T>C (p.Ser1306Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001322034] |
Chr5:132642341 [GRCh38]
Chr5:131978033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2576A>C (p.Gln859Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001344005] |
Chr5:132604857 [GRCh38]
Chr5:131940549 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001346050] |
Chr5:132559363 [GRCh38]
Chr5:131895055 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2557A>T (p.Ile853Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001368340] |
Chr5:132604838 [GRCh38]
Chr5:131940530 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.424A>G (p.Ser142Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315995] |
Chr5:132579375 [GRCh38]
Chr5:131915067 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3106G>A (p.Glu1036Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001302013] |
Chr5:132616072 [GRCh38]
Chr5:131951764 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3690G>C (p.Leu1230Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001344084] |
Chr5:132640743 [GRCh38]
Chr5:131976435 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3935A>C (p.His1312Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001346097] |
Chr5:132642360 [GRCh38]
Chr5:131978052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246A>G (p.Asn416Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001361453]|RAD50-related disorder [RCV004751964] |
Chr5:132589631 [GRCh38]
Chr5:131925323 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2821C>A (p.Gln941Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001314867] |
Chr5:132608717 [GRCh38]
Chr5:131944409 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2635A>G (p.Thr879Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001341063] |
Chr5:132604916 [GRCh38]
Chr5:131940608 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.712A>C (p.Lys238Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001342625] |
Chr5:132580022 [GRCh38]
Chr5:131915714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1729G>A (p.Glu577Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001302120] |
Chr5:132591970 [GRCh38]
Chr5:131927662 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2740C>T (p.Pro914Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001323276] |
Chr5:132608636 [GRCh38]
Chr5:131944328 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3714_3728del (p.Asp1238_Ile1242del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001323290] |
Chr5:132640763..132640777 [GRCh38]
Chr5:131976455..131976469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1034A>T (p.Glu345Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001372408] |
Chr5:132588072 [GRCh38]
Chr5:131923764 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1025A>C (p.Glu342Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307849] |
Chr5:132588063 [GRCh38]
Chr5:131923755 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131911459)_(131915768_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001323307] |
Chr5:131911459..131915768 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1144G>T (p.Gly382Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001374220] |
Chr5:132588779 [GRCh38]
Chr5:131924471 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131926906)_(131927108_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001339086] |
Chr5:131926906..131927108 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2500G>A (p.Glu834Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001323385] |
Chr5:132604022 [GRCh38]
Chr5:131939714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.439T>C (p.Ser147Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001313352] |
Chr5:132579390 [GRCh38]
Chr5:131915082 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3817T>G (p.Phe1273Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001372763] |
Chr5:132642242 [GRCh38]
Chr5:131977934 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1187T>A (p.Phe396Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001370004] |
Chr5:132588822 [GRCh38]
Chr5:131924514 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3541A>G (p.Asn1181Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001350444] |
Chr5:132638146 [GRCh38]
Chr5:131973838 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1611A>G (p.Gln537=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001298532] |
Chr5:132591382 [GRCh38]
Chr5:131927074 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.466T>G (p.Phe156Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001321031] |
Chr5:132579417 [GRCh38]
Chr5:131915109 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1890T>A (p.Phe630Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001322509] |
Chr5:132594965 [GRCh38]
Chr5:131930657 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3892G>A (p.Glu1298Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001359777] |
Chr5:132642317 [GRCh38]
Chr5:131978009 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.938G>C (p.Arg313Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001340226] |
Chr5:132587976 [GRCh38]
Chr5:131923668 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2595T>A (p.Ser865Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001347958] |
Chr5:132604876 [GRCh38]
Chr5:131940568 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1619T>A (p.Met540Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001348016] |
Chr5:132591390 [GRCh38]
Chr5:131927082 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2881A>G (p.Ile961Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001364311] |
Chr5:132609168 [GRCh38]
Chr5:131944860 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3908G>A (p.Ser1303Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001370852] |
Chr5:132642333 [GRCh38]
Chr5:131978025 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.269A>T (p.Asn90Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315241] |
Chr5:132575832 [GRCh38]
Chr5:131911524 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.323A>C (p.Lys108Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001309182] |
Chr5:132575886 [GRCh38]
Chr5:131911578 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1577A>G (p.Glu526Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001345555] |
Chr5:132591348 [GRCh38]
Chr5:131927040 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1633A>C (p.Lys545Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001362283] |
Chr5:132591404 [GRCh38]
Chr5:131927096 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.689A>G (p.Lys230Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001368377] |
Chr5:132579999 [GRCh38]
Chr5:131915691 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1087C>T (p.His363Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306204] |
Chr5:132588722 [GRCh38]
Chr5:131924414 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1847A>C (p.Lys616Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318317] |
Chr5:132594922 [GRCh38]
Chr5:131930614 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2594G>A (p.Ser865Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001322682] |
Chr5:132604875 [GRCh38]
Chr5:131940567 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3239G>A (p.Gly1080Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001351744] |
Chr5:132618144 [GRCh38]
Chr5:131953836 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.236G>C (p.Arg79Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001317517]|not provided [RCV003478774] |
Chr5:132575799 [GRCh38]
Chr5:131911491 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2281A>G (p.Ile761Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001325261]|Nijmegen breakage syndrome-like disorder [RCV003462898] |
Chr5:132603373 [GRCh38]
Chr5:131939065 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.88C>A (p.Pro30Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001313952] |
Chr5:132557412 [GRCh38]
Chr5:131893104 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1512A>C (p.Val504=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001421360] |
Chr5:132591283 [GRCh38]
Chr5:131926975 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.274G>C (p.Glu92Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001304813] |
Chr5:132575837 [GRCh38]
Chr5:131911529 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3849G>A (p.Val1283=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001324739] |
Chr5:132642274 [GRCh38]
Chr5:131977966 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NC_000005.9:g.(?_131893017)_(131931512_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001295950] |
Chr5:131893017..131931512 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1097C>G (p.Ala366Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001299430] |
Chr5:132588732 [GRCh38]
Chr5:131924424 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001366435] |
Chr5:132595048 [GRCh38]
Chr5:131930740 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001421578] |
Chr5:132591870 [GRCh38]
Chr5:131927562 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3214A>C (p.Asn1072His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315567] |
Chr5:132618119 [GRCh38]
Chr5:131953811 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.86G>T (p.Ser29Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318427] |
Chr5:132557410 [GRCh38]
Chr5:131893102 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2302A>G (p.Ile768Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001366781] |
Chr5:132603394 [GRCh38]
Chr5:131939086 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3097_3098del (p.Glu1033fs) |
deletion |
Breast and/or ovarian cancer [RCV001271003]|Hereditary cancer-predisposing syndrome [RCV002541658] |
Chr5:132616062..132616063 [GRCh38]
Chr5:131951754..131951755 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.668T>C (p.Ile223Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315721] |
Chr5:132579978 [GRCh38]
Chr5:131915670 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1697T>C (p.Leu566Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001366808] |
Chr5:132591938 [GRCh38]
Chr5:131927630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1966C>G (p.Arg656Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001318597] |
Chr5:132595041 [GRCh38]
Chr5:131930733 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3864G>C (p.Arg1288Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001326912] |
Chr5:132642289 [GRCh38]
Chr5:131977981 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+10_1051+11del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001394755] |
Chr5:132588097..132588098 [GRCh38]
Chr5:131923789..131923790 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3701C>T (p.Thr1234Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001297535] |
Chr5:132640754 [GRCh38]
Chr5:131976446 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.212A>C (p.Lys71Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001307547] |
Chr5:132559366 [GRCh38]
Chr5:131895058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246-9T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001341051] |
Chr5:132589622 [GRCh38]
Chr5:131925314 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.52G>A (p.Glu18Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001367309] |
Chr5:132557376 [GRCh38]
Chr5:131893068 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3909_3912dup (p.Ser1305delinsCysTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001325981] |
Chr5:132642333..132642334 [GRCh38]
Chr5:131978025..131978026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1324A>G (p.Ile442Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001360942] |
Chr5:132589709 [GRCh38]
Chr5:131925401 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.556A>G (p.Ile186Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001327059] |
Chr5:132579866 [GRCh38]
Chr5:131915558 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3740A>C (p.His1247Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001359266] |
Chr5:132640793 [GRCh38]
Chr5:131976485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051G>C (p.Gly351Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001370405] |
Chr5:132588089 [GRCh38]
Chr5:131923781 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3556G>T (p.Val1186Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001348956] |
Chr5:132638161 [GRCh38]
Chr5:131973853 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2998G>A (p.Asp1000Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001361248] |
Chr5:132609358 [GRCh38]
Chr5:131945050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.363A>G (p.Thr121=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001494710]|Nijmegen breakage syndrome-like disorder [RCV002258289] |
Chr5:132575926 [GRCh38]
Chr5:131911618 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3112A>C (p.Arg1038=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001395055] |
Chr5:132616078 [GRCh38]
Chr5:131951770 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3063C>A (p.Asn1021Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001352095] |
Chr5:132616029 [GRCh38]
Chr5:131951721 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3322A>G (p.Met1108Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001306694] |
Chr5:132618227 [GRCh38]
Chr5:131953919 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922G>C (p.Lys974Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001317143] |
Chr5:132609209 [GRCh38]
Chr5:131944901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2350A>C (p.Ser784Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001352119] |
Chr5:132603442 [GRCh38]
Chr5:131939134 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1627A>G (p.Lys543Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001315836] |
Chr5:132591398 [GRCh38]
Chr5:131927090 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2103G>A (p.Leu701=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001421708] |
Chr5:132595706 [GRCh38]
Chr5:131931398 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2446C>A (p.Leu816Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001339449] |
Chr5:132603968 [GRCh38]
Chr5:131939660 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2327G>T (p.Gly776Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001369844] |
Chr5:132603419 [GRCh38]
Chr5:131939111 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.518A>G (p.Lys173Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001369971] |
Chr5:132579469 [GRCh38]
Chr5:131915161 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.296C>A (p.Ser99Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001324998] |
Chr5:132575859 [GRCh38]
Chr5:131911551 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3752+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001324999] |
Chr5:132640809 [GRCh38]
Chr5:131976501 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2397+4A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001317519] |
Chr5:132603493 [GRCh38]
Chr5:131939185 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3392C>G (p.Ala1131Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001365912] |
Chr5:132637117 [GRCh38]
Chr5:131972809 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2581C>G (p.Gln861Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001317725] |
Chr5:132604862 [GRCh38]
Chr5:131940554 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3390A>G (p.Gln1130=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001366042] |
Chr5:132637115 [GRCh38]
Chr5:131972807 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2260C>T (p.Leu754=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001490239] |
Chr5:132603352 [GRCh38]
Chr5:131939044 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1077C>G (p.Arg359=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001474927] |
Chr5:132588712 [GRCh38]
Chr5:131924404 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2709A>G (p.Arg903=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001467955] |
Chr5:132604990 [GRCh38]
Chr5:131940682 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001377701] |
Chr5:132637113 [GRCh38]
Chr5:131972805 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1579C>T (p.Gln527Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001380174] |
Chr5:132591350 [GRCh38]
Chr5:131927042 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2724T>G (p.Ala908=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001486837] |
Chr5:132608620 [GRCh38]
Chr5:131944312 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1941G>A (p.Glu647=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001427705] |
Chr5:132595016 [GRCh38]
Chr5:131930708 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.738T>C (p.Asn246=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001492362] |
Chr5:132580048 [GRCh38]
Chr5:131915740 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2565C>T (p.Asp855=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001492372] |
Chr5:132604846 [GRCh38]
Chr5:131940538 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1404A>G (p.Glu468=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001458146] |
Chr5:132589789 [GRCh38]
Chr5:131925481 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2370A>G (p.Thr790=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001453966] |
Chr5:132603462 [GRCh38]
Chr5:131939154 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1789T>C (p.Leu597=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001399482] |
Chr5:132592030 [GRCh38]
Chr5:131927722 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-6C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001458653] |
Chr5:132591871 [GRCh38]
Chr5:131927563 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.84C>T (p.Phe28=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001476175] |
Chr5:132557408 [GRCh38]
Chr5:131893100 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1254T>C (p.Phe418=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001496378] |
Chr5:132589639 [GRCh38]
Chr5:131925331 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001503043] |
Chr5:132609107 [GRCh38]
Chr5:131944799 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001417444]|not specified [RCV002298948] |
Chr5:132637105 [GRCh38]
Chr5:131972797 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1843del (p.Glu614_Leu615insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001385065] |
Chr5:132594918 [GRCh38]
Chr5:131930610 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2719-10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001487885] |
Chr5:132608605 [GRCh38]
Chr5:131944297 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3537G>A (p.Arg1179=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001488233] |
Chr5:132638142 [GRCh38]
Chr5:131973834 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.627A>G (p.Glu209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001491037] |
Chr5:132579937 [GRCh38]
Chr5:131915629 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.*8C>T |
single nucleotide variant |
not specified [RCV001526898] |
Chr5:132642372 [GRCh38]
Chr5:131978064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001470987] |
Chr5:132591867 [GRCh38]
Chr5:131927559 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1507G>T (p.Glu503Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001380815] |
Chr5:132591278 [GRCh38]
Chr5:131926970 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1320A>C (p.Gly440=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001436440] |
Chr5:132589705 [GRCh38]
Chr5:131925397 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001499848] |
Chr5:132588096 [GRCh38]
Chr5:131923788 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1332G>A (p.Glu444=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001499891] |
Chr5:132589717 [GRCh38]
Chr5:131925409 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3204A>G (p.Lys1068=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001476745] |
Chr5:132618109 [GRCh38]
Chr5:131953801 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2202C>T (p.Pro734=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001455731] |
Chr5:132595805 [GRCh38]
Chr5:131931497 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3156A>G (p.Gln1052=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001418125] |
Chr5:132616122 [GRCh38]
Chr5:131951814 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.340C>T (p.Leu114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001466425] |
Chr5:132575903 [GRCh38]
Chr5:131911595 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1191C>T (p.His397=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001500266] |
Chr5:132588826 [GRCh38]
Chr5:131924518 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3351G>A (p.Val1117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001485392] |
Chr5:132618256 [GRCh38]
Chr5:131953948 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1386T>C (p.Tyr462=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001491676] |
Chr5:132589771 [GRCh38]
Chr5:131925463 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2790C>T (p.Ile930=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001492920] |
Chr5:132608686 [GRCh38]
Chr5:131944378 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3687C>G (p.Ala1229=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001501152] |
Chr5:132640740 [GRCh38]
Chr5:131976432 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2760A>G (p.Glu920=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001504334] |
Chr5:132608656 [GRCh38]
Chr5:131944348 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1599A>G (p.Thr533=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001497929] |
Chr5:132591370 [GRCh38]
Chr5:131927062 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001485948] |
Chr5:132557460 [GRCh38]
Chr5:131893152 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2175G>A (p.Arg725=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001498198] |
Chr5:132595778 [GRCh38]
Chr5:131931470 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1491A>G (p.Val497=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001426814] |
Chr5:132591262 [GRCh38]
Chr5:131926954 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1800A>G (p.Glu600=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001486010] |
Chr5:132594875 [GRCh38]
Chr5:131930567 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2467C>A (p.Arg823=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001477414] |
Chr5:132603989 [GRCh38]
Chr5:131939681 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.708T>G (p.Ser236=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001416320] |
Chr5:132580018 [GRCh38]
Chr5:131915710 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2973G>A (p.Glu991=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001472570] |
Chr5:132609333 [GRCh38]
Chr5:131945025 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1329T>A (p.Ile443=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001489888] |
Chr5:132589714 [GRCh38]
Chr5:131925406 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-8C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001488371] |
Chr5:132603292 [GRCh38]
Chr5:131938984 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1953A>G (p.Lys651=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001497673] |
Chr5:132595028 [GRCh38]
Chr5:131930720 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1761T>C (p.Ile587=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001469088] |
Chr5:132592002 [GRCh38]
Chr5:131927694 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3114A>G (p.Arg1038=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001493674] |
Chr5:132616080 [GRCh38]
Chr5:131951772 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3633C>G (p.Leu1211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001502101] |
Chr5:132640686 [GRCh38]
Chr5:131976378 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001502162]|RAD50-related disorder [RCV003983919] |
Chr5:132616139 [GRCh38]
Chr5:131951831 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1934_1935dup (p.Lys646fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001380165] |
Chr5:132595008..132595009 [GRCh38]
Chr5:131930700..131930701 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.193dup (p.Thr65fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001387183]|Nijmegen breakage syndrome-like disorder [RCV002243177] |
Chr5:132559346..132559347 [GRCh38]
Chr5:131895038..131895039 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.3753-10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001411816] |
Chr5:132642168 [GRCh38]
Chr5:131977860 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.*284C>G |
single nucleotide variant |
not provided [RCV001537208] |
Chr5:132642648 [GRCh38]
Chr5:131978340 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.696C>G (p.Ala232=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001438403] |
Chr5:132580006 [GRCh38]
Chr5:131915698 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-21_2923-5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001432524] |
Chr5:132609260..132609276 [GRCh38]
Chr5:131944952..131944968 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001411907] |
Chr5:132609113 [GRCh38]
Chr5:131944805 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2913C>T (p.Asp971=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001411964] |
Chr5:132609200 [GRCh38]
Chr5:131944892 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3558G>C (p.Val1186=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001428012] |
Chr5:132638163 [GRCh38]
Chr5:131973855 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1412C>A (p.Ser471Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001389742] |
Chr5:132589797 [GRCh38]
Chr5:131925489 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.877del (p.Met293fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001384801] |
Chr5:132587679 [GRCh38]
Chr5:131923371 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.62dup (p.Asp21fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001384805] |
Chr5:132557385..132557386 [GRCh38]
Chr5:131893077..131893078 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2341del (p.Glu781fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001384854] |
Chr5:132603433 [GRCh38]
Chr5:131939125 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2371_2372del (p.Asp791fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001381254] |
Chr5:132603462..132603463 [GRCh38]
Chr5:131939154..131939155 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.381C>G (p.Val127=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001409741] |
Chr5:132579332 [GRCh38]
Chr5:131915024 [GRCh37]
Chr5:5q31.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.3458dup (p.Ser1153fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001383675] |
Chr5:132637182..132637183 [GRCh38]
Chr5:131972874..131972875 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.9:g.(?_131891616)_(131981313_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001384899] |
Chr5:131891616..131981313 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.9:g.(?_131893011)_(131978062_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001384900] |
Chr5:131893011..131978062 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.9:g.(?_131893017)_(131978056_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001384901] |
Chr5:131893017..131978056 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3672C>T (p.Asn1224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001417160] |
Chr5:132640725 [GRCh38]
Chr5:131976417 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.225A>G (p.Glu75=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001404868] |
Chr5:132575788 [GRCh38]
Chr5:131911480 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001446472] |
Chr5:132608735 [GRCh38]
Chr5:131944427 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3654T>C (p.Ala1218=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001449077] |
Chr5:132640707 [GRCh38]
Chr5:131976399 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.195A>G (p.Thr65=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001444185] |
Chr5:132559349 [GRCh38]
Chr5:131895041 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2274T>C (p.Asn758=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001437535] |
Chr5:132603366 [GRCh38]
Chr5:131939058 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-6T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001410117] |
Chr5:132588681 [GRCh38]
Chr5:131924373 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.948G>A (p.Arg316=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001410245] |
Chr5:132587986 [GRCh38]
Chr5:131923678 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1504del (p.Met502fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001390329] |
Chr5:132591271 [GRCh38]
Chr5:131926963 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1098T>C (p.Ala366=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001447135] |
Chr5:132588733 [GRCh38]
Chr5:131924425 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.489T>C (p.Asn163=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001431186] |
Chr5:132579440 [GRCh38]
Chr5:131915132 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.358A>C (p.Arg120=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001441858] |
Chr5:132575921 [GRCh38]
Chr5:131911613 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2496A>G (p.Lys832=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001447435] |
Chr5:132604018 [GRCh38]
Chr5:131939710 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.324G>A (p.Lys108=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001428941] |
Chr5:132575887 [GRCh38]
Chr5:131911579 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1422T>C (p.Ile474=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001398163] |
Chr5:132589807 [GRCh38]
Chr5:131925499 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.823T>C (p.Leu275=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001447717] |
Chr5:132587628 [GRCh38]
Chr5:131923320 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1576G>T (p.Glu526Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001384103] |
Chr5:132591347 [GRCh38]
Chr5:131927039 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2296_2300dup (p.Asp767fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001380664] |
Chr5:132603387..132603388 [GRCh38]
Chr5:131939079..131939080 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3894G>A (p.Glu1298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001442363] |
Chr5:132642319 [GRCh38]
Chr5:131978011 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+10A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001416315] |
Chr5:132588099 [GRCh38]
Chr5:131923791 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3084T>C (p.Asn1028=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001427216] |
Chr5:132616050 [GRCh38]
Chr5:131951742 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1329_1330insAAGTT (p.Glu444fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV001389032] |
Chr5:132589712..132589713 [GRCh38]
Chr5:131925404..131925405 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1235del (p.Asn412fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001381942] |
Chr5:132588869 [GRCh38]
Chr5:131924561 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1695A>G (p.Ser565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001432074] |
Chr5:132591936 [GRCh38]
Chr5:131927628 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2127A>G (p.Pro709=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001406587] |
Chr5:132595730 [GRCh38]
Chr5:131931422 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.585A>C (p.Val195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001411494] |
Chr5:132579895 [GRCh38]
Chr5:131915587 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1048C>T (p.Gln350Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001380049] |
Chr5:132588086 [GRCh38]
Chr5:131923778 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.415G>T (p.Glu139Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001387048] |
Chr5:132579366 [GRCh38]
Chr5:131915058 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3475+10A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001445533] |
Chr5:132637210 [GRCh38]
Chr5:131972902 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3266_3273del (p.Lys1089fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001385843] |
Chr5:132618170..132618177 [GRCh38]
Chr5:131953862..131953869 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2331A>C (p.Thr777=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001436980] |
Chr5:132603423 [GRCh38]
Chr5:131939115 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2767C>T (p.Gln923Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001380968] |
Chr5:132608663 [GRCh38]
Chr5:131944355 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NC_000005.10:g.132556665C>T |
single nucleotide variant |
not provided [RCV001709000] |
Chr5:132556665 [GRCh38]
Chr5:131892357 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2736A>G (p.Val912=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001482182] |
Chr5:132608632 [GRCh38]
Chr5:131944324 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1497C>A (p.Thr499=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001458811] |
Chr5:132591268 [GRCh38]
Chr5:131926960 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3318A>G (p.Glu1106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001500832] |
Chr5:132618223 [GRCh38]
Chr5:131953915 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.123A>G (p.Gly41=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001504036] |
Chr5:132557447 [GRCh38]
Chr5:131893139 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1809A>G (p.Ser603=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001466563] |
Chr5:132594884 [GRCh38]
Chr5:131930576 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3165-5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001512735] |
Chr5:132618060 [GRCh38]
Chr5:131953752 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.384T>C (p.Ser128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001504331] |
Chr5:132579335 [GRCh38]
Chr5:131915027 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.171C>T (p.Phe57=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001452781] |
Chr5:132559325 [GRCh38]
Chr5:131895017 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2484C>T (p.Val828=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001453239] |
Chr5:132604006 [GRCh38]
Chr5:131939698 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001501120] |
Chr5:132640662 [GRCh38]
Chr5:131976354 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2142A>G (p.Ser714=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001453476] |
Chr5:132595745 [GRCh38]
Chr5:131931437 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1035A>G (p.Glu345=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001435584] |
Chr5:132588073 [GRCh38]
Chr5:131923765 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1152G>A (p.Glu384=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001441958] |
Chr5:132588787 [GRCh38]
Chr5:131924479 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-9C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001502911] |
Chr5:132638072 [GRCh38]
Chr5:131973764 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3738A>C (p.Ala1246=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001473029] |
Chr5:132640791 [GRCh38]
Chr5:131976483 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2043C>A (p.Cys681Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001381051] |
Chr5:132595646 [GRCh38]
Chr5:131931338 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3171T>C (p.His1057=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001484407] |
Chr5:132618076 [GRCh38]
Chr5:131953768 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001378151] |
Chr5:132640671 [GRCh38]
Chr5:131976363 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1020T>C (p.Asn340=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001497839] |
Chr5:132588058 [GRCh38]
Chr5:131923750 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1707T>C (p.Tyr569=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001482041] |
Chr5:132591948 [GRCh38]
Chr5:131927640 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2754A>T (p.Thr918=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001506487] |
Chr5:132608650 [GRCh38]
Chr5:131944342 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.474_481del (p.His158fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001388389] |
Chr5:132579425..132579432 [GRCh38]
Chr5:131915117..131915124 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3792T>A (p.Leu1264=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001476136] |
Chr5:132642217 [GRCh38]
Chr5:131977909 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1572G>A (p.Glu524=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001440126] |
Chr5:132591343 [GRCh38]
Chr5:131927035 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2424A>G (p.Lys808=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001406239] |
Chr5:132603946 [GRCh38]
Chr5:131939638 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+9C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001406275] |
Chr5:132640814 [GRCh38]
Chr5:131976506 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1221A>G (p.Glu407=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001498973] |
Chr5:132588856 [GRCh38]
Chr5:131924548 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001461002] |
Chr5:132603294 [GRCh38]
Chr5:131938986 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001503445] |
Chr5:132640813 [GRCh38]
Chr5:131976505 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2319A>T (p.Thr773=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001397791] |
Chr5:132603411 [GRCh38]
Chr5:131939103 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2202C>A (p.Pro734=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001417696] |
Chr5:132595805 [GRCh38]
Chr5:131931497 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.996A>G (p.Leu332=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001434455] |
Chr5:132588034 [GRCh38]
Chr5:131923726 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3462C>A (p.Thr1154=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001404313] |
Chr5:132637187 [GRCh38]
Chr5:131972879 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2545_2546insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTGAATTGA (p.Asn849delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerArgAspArgAspHisProGlyTer) |
insertion |
Hereditary cancer-predisposing syndrome [RCV001385583] |
Chr5:132604813..132604814 [GRCh38]
Chr5:131940505..131940506 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3753-7G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001393389] |
Chr5:132642171 [GRCh38]
Chr5:131977863 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2944_2945insTT (p.Lys982fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV001386922] |
Chr5:132609304..132609305 [GRCh38]
Chr5:131944996..131944997 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2196T>C (p.Leu732=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001404320] |
Chr5:132595799 [GRCh38]
Chr5:131931491 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1770C>G (p.Thr590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001404384] |
Chr5:132592011 [GRCh38]
Chr5:131927703 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.900T>G (p.Thr300=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001500812] |
Chr5:132587938 [GRCh38]
Chr5:131923630 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1019_1022del (p.Asn340fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001380371] |
Chr5:132588054..132588057 [GRCh38]
Chr5:131923746..131923749 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3120A>G (p.Gln1040=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001423595] |
Chr5:132616086 [GRCh38]
Chr5:131951778 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3426A>G (p.Glu1142=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001400433] |
Chr5:132637151 [GRCh38]
Chr5:131972843 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2280C>T (p.Asp760=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001398138] |
Chr5:132603372 [GRCh38]
Chr5:131939064 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2235G>A (p.Lys745=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001441037] |
Chr5:132603327 [GRCh38]
Chr5:131939019 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.90C>T (p.Pro30=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001499343] |
Chr5:132557414 [GRCh38]
Chr5:131893106 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.9:g.(?_131931449)_131934832del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001377298] |
|
likely pathogenic |
| NM_005732.4(RAD50):c.2685dup (p.Thr896fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001389699] |
Chr5:132604964..132604965 [GRCh38]
Chr5:131940656..131940657 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3900G>A (p.Val1300=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001452343] |
Chr5:132642325 [GRCh38]
Chr5:131978017 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-8T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001479377] |
Chr5:132638073 [GRCh38]
Chr5:131973765 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001379503]|Nijmegen breakage syndrome-like disorder [RCV003469640] |
Chr5:132588090 [GRCh38]
Chr5:131923782 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.648T>C (p.Tyr216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001488889] |
Chr5:132579958 [GRCh38]
Chr5:131915650 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.9:g.(?_131973767)_(131973921_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV001377297] |
Chr5:131973767..131973921 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.858T>C (p.Asn286=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001484035] |
Chr5:132587663 [GRCh38]
Chr5:131923355 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2133A>G (p.Lys711=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001399433] |
Chr5:132595736 [GRCh38]
Chr5:131931428 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.359G>C (p.Arg120Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003109134] |
Chr5:132575922 [GRCh38]
Chr5:131911614 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1176G>A (p.Gln392=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293389] |
Chr5:132588811 [GRCh38]
Chr5:131924503 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.393T>C (p.Ser131=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293390] |
Chr5:132579344 [GRCh38]
Chr5:131915036 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+232G>A |
single nucleotide variant |
not provided [RCV001769720] |
Chr5:132595276 [GRCh38]
Chr5:131930968 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+184T>G |
single nucleotide variant |
not provided [RCV001769946] |
Chr5:132557637 [GRCh38]
Chr5:131893329 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.9:g.(?_131892615)_(131980314_?)del |
deletion |
Hereditary breast ovarian cancer syndrome [RCV002240102] |
Chr5:131892615..131980314 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.366-13T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003095855]|Nijmegen breakage syndrome-like disorder [RCV002258720] |
Chr5:132579304 [GRCh38]
Chr5:131914996 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1294A>C (p.Ile432Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004325365] |
Chr5:132589679 [GRCh38]
Chr5:131925371 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+1G>T |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV001783661] |
Chr5:132579503 [GRCh38]
Chr5:131915195 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1794-193A>C |
single nucleotide variant |
not provided [RCV001767915] |
Chr5:132594676 [GRCh38]
Chr5:131930368 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-63C>T |
single nucleotide variant |
not provided [RCV001779677] |
Chr5:132587499 [GRCh38]
Chr5:131923191 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2099_2100del (p.Asp700fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001775046] |
Chr5:132595702..132595703 [GRCh38]
Chr5:131931394..131931395 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2395C>T (p.Gln799Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003772141]|Nijmegen breakage syndrome-like disorder [RCV001784897] |
Chr5:132603487 [GRCh38]
Chr5:131939179 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1970-65G>A |
single nucleotide variant |
not provided [RCV001769733] |
Chr5:132595508 [GRCh38]
Chr5:131931200 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+110A>G |
single nucleotide variant |
not provided [RCV001769813] |
Chr5:132637310 [GRCh38]
Chr5:131973002 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2620A>T (p.Lys874Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746603]|Nijmegen breakage syndrome-like disorder [RCV001784896] |
Chr5:132604901 [GRCh38]
Chr5:131940593 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3080del (p.Arg1027fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV001783662] |
Chr5:132616046 [GRCh38]
Chr5:131951738 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2524+236del |
deletion |
not provided [RCV001759358] |
Chr5:132604269 [GRCh38]
Chr5:131939961 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-131del |
deletion |
not provided [RCV001762907] |
Chr5:132591087 [GRCh38]
Chr5:131926779 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.130-265A>G |
single nucleotide variant |
not provided [RCV001766326] |
Chr5:132559019 [GRCh38]
Chr5:131894711 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+49G>C |
single nucleotide variant |
not provided [RCV001769666] |
Chr5:132616179 [GRCh38]
Chr5:131951871 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3763del (p.Ser1255fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002544256]|Nijmegen breakage syndrome-like disorder [RCV001784899] |
Chr5:132642184 [GRCh38]
Chr5:131977876 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_005732.4(RAD50):c.2207+203dup |
duplication |
not provided [RCV001759091] |
Chr5:132596003..132596004 [GRCh38]
Chr5:131931695..131931696 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+151C>T |
single nucleotide variant |
not provided [RCV001753083] |
Chr5:132609547 [GRCh38]
Chr5:131945239 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+296G>A |
single nucleotide variant |
not provided [RCV001768025] |
Chr5:132596106 [GRCh38]
Chr5:131931798 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.383G>T (p.Ser128Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002003651] |
Chr5:132579334 [GRCh38]
Chr5:131915026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2564A>C (p.Asp855Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001895704] |
Chr5:132604845 [GRCh38]
Chr5:131940537 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001914850] |
Chr5:132591410 [GRCh38]
Chr5:131927102 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3805C>G (p.His1269Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002025222] |
Chr5:132642230 [GRCh38]
Chr5:131977922 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.509A>C (p.Lys170Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002025402] |
Chr5:132579460 [GRCh38]
Chr5:131915152 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-10C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001896539] |
Chr5:132594859 [GRCh38]
Chr5:131930551 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2231A>G (p.Glu744Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001987730] |
Chr5:132603323 [GRCh38]
Chr5:131939015 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3724A>T (p.Ile1242Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001950628] |
Chr5:132640777 [GRCh38]
Chr5:131976469 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2674G>C (p.Val892Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002025415] |
Chr5:132604955 [GRCh38]
Chr5:131940647 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3241T>G (p.Tyr1081Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002022702] |
Chr5:132618146 [GRCh38]
Chr5:131953838 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.903T>A (p.Asp301Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001872958] |
Chr5:132587941 [GRCh38]
Chr5:131923633 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.448G>T (p.Val150Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001988463] |
Chr5:132579399 [GRCh38]
Chr5:131915091 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2242C>G (p.Pro748Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001864445] |
Chr5:132603334 [GRCh38]
Chr5:131939026 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3113G>A (p.Arg1038Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020531] |
Chr5:132616079 [GRCh38]
Chr5:131951771 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3761_3763del (p.Lys1254del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001950590] |
Chr5:132642184..132642186 [GRCh38]
Chr5:131977876..131977878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.442A>C (p.Lys148Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001988825] |
Chr5:132579393 [GRCh38]
Chr5:131915085 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1049A>C (p.Gln350Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001913802] |
Chr5:132588087 [GRCh38]
Chr5:131923779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2357A>G (p.Lys786Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001864485] |
Chr5:132603449 [GRCh38]
Chr5:131939141 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3625G>C (p.Ala1209Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001896936] |
Chr5:132640678 [GRCh38]
Chr5:131976370 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.49A>G (p.Ile17Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002008767] |
Chr5:132557373 [GRCh38]
Chr5:131893065 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2867G>C (p.Gly956Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001864149] |
Chr5:132609154 [GRCh38]
Chr5:131944846 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3722_3741del (p.Asn1241fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001966568] |
Chr5:132640775..132640794 [GRCh38]
Chr5:131976467..131976486 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.797T>A (p.Met266Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002023586] |
Chr5:132587602 [GRCh38]
Chr5:131923294 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2641T>A (p.Leu881Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001969061] |
Chr5:132604922 [GRCh38]
Chr5:131940614 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2504A>C (p.Lys835Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002044870] |
Chr5:132604026 [GRCh38]
Chr5:131939718 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3718G>C (p.Glu1240Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002002696] |
Chr5:132640771 [GRCh38]
Chr5:131976463 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.204C>G (p.His68Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020944] |
Chr5:132559358 [GRCh38]
Chr5:131895050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1060C>G (p.Gln354Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002044323] |
Chr5:132588695 [GRCh38]
Chr5:131924387 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.17del (p.Lys6fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001929079] |
Chr5:132557338 [GRCh38]
Chr5:131893030 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3752+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001874093] |
Chr5:132640810 [GRCh38]
Chr5:131976502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.142dup (p.Cys48fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001949929] |
Chr5:132559295..132559296 [GRCh38]
Chr5:131894987..131894988 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.519G>C (p.Lys173Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002007047] |
Chr5:132579470 [GRCh38]
Chr5:131915162 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2390G>A (p.Arg797Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001894564] |
Chr5:132603482 [GRCh38]
Chr5:131939174 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.113A>T (p.Asn38Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001970339] |
Chr5:132557437 [GRCh38]
Chr5:131893129 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.610A>T (p.Lys204Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001913213] |
Chr5:132579920 [GRCh38]
Chr5:131915612 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2979C>A (p.His993Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002008668]|not provided [RCV004999592] |
Chr5:132609339 [GRCh38]
Chr5:131945031 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3332T>G (p.Met1111Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001894633] |
Chr5:132618237 [GRCh38]
Chr5:131953929 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.25A>C (p.Ile9Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001872763] |
Chr5:132557349 [GRCh38]
Chr5:131893041 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.238G>A (p.Ala80Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001970434] |
Chr5:132575801 [GRCh38]
Chr5:131911493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2226_2227delinsAT (p.Lys743Ter) |
indel |
Hereditary cancer-predisposing syndrome [RCV002007257] |
Chr5:132603318..132603319 [GRCh38]
Chr5:131939010..131939011 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2525-16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002008153] |
Chr5:132604790 [GRCh38]
Chr5:131940482 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2494A>C (p.Lys832Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002025696] |
Chr5:132604016 [GRCh38]
Chr5:131939708 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.89C>T (p.Pro30Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002039966] |
Chr5:132557413 [GRCh38]
Chr5:131893105 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2525-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001968955] |
Chr5:132604805 [GRCh38]
Chr5:131940497 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3111A>C (p.Glu1037Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002022857] |
Chr5:132616077 [GRCh38]
Chr5:131951769 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-20G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001983193] |
Chr5:132559264 [GRCh38]
Chr5:131894956 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.596A>G (p.Gln199Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001966516] |
Chr5:132579906 [GRCh38]
Chr5:131915598 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2947_2950del (p.Lys982_Val983insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001984985] |
Chr5:132609305..132609308 [GRCh38]
Chr5:131944997..131945000 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3779G>T (p.Arg1260Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001967420] |
Chr5:132642204 [GRCh38]
Chr5:131977896 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2218A>G (p.Ile740Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020915] |
Chr5:132603310 [GRCh38]
Chr5:131939002 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2632T>G (p.Ser878Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001926338] |
Chr5:132604913 [GRCh38]
Chr5:131940605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+3A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002041958]|not provided [RCV003478883] |
Chr5:132604049 [GRCh38]
Chr5:131939741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.747del (p.Pro250fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002002356] |
Chr5:132580057 [GRCh38]
Chr5:131915749 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3755TAA[1] (p.Ile1253del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001947343] |
Chr5:132642179..132642181 [GRCh38]
Chr5:131977871..131977873 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001911276] |
Chr5:132609213 [GRCh38]
Chr5:131944905 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3508G>C (p.Asp1170His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002022600] |
Chr5:132638113 [GRCh38]
Chr5:131973805 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.244A>G (p.Ile82Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002005229] |
Chr5:132575807 [GRCh38]
Chr5:131911499 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3786_3787delinsTT (p.Gln1263Ter) |
indel |
Hereditary cancer-predisposing syndrome [RCV002022285] |
Chr5:132642211..132642212 [GRCh38]
Chr5:131977903..131977904 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2923-11_2923-10del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002039383] |
Chr5:132609271..132609272 [GRCh38]
Chr5:131944963..131944964 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2767del (p.Gln923fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001946572] |
Chr5:132608662 [GRCh38]
Chr5:131944354 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3118del (p.Gln1040fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001893763] |
Chr5:132616084 [GRCh38]
Chr5:131951776 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2105A>G (p.Gln702Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002005334] |
Chr5:132595708 [GRCh38]
Chr5:131931400 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.668T>G (p.Ile223Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001965518] |
Chr5:132579978 [GRCh38]
Chr5:131915670 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.463A>C (p.Ile155Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001891007] |
Chr5:132579414 [GRCh38]
Chr5:131915106 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.202C>T (p.His68Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001927121] |
Chr5:132559356 [GRCh38]
Chr5:131895048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131951685)_(131978056_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002002247] |
Chr5:131951685..131978056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3713A>G (p.Asp1238Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001968659] |
Chr5:132640766 [GRCh38]
Chr5:131976458 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1643A>G (p.Lys548Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001969820] |
Chr5:132591884 [GRCh38]
Chr5:131927576 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2069_2072del (p.Thr690fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001948776] |
Chr5:132595668..132595671 [GRCh38]
Chr5:131931360..131931363 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3271G>T (p.Glu1091Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001970125] |
Chr5:132618176 [GRCh38]
Chr5:131953868 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2407A>T (p.Lys803Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001987533] |
Chr5:132603929 [GRCh38]
Chr5:131939621 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.380_381insGAA (p.Val127_Ser128insAsn) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002023642] |
Chr5:132579331..132579332 [GRCh38]
Chr5:131915023..131915024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2525-16A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001983003] |
Chr5:132604790 [GRCh38]
Chr5:131940482 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.151T>C (p.Tyr51His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001985952] |
Chr5:132559305 [GRCh38]
Chr5:131894997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3391G>A (p.Ala1131Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001927256] |
Chr5:132637116 [GRCh38]
Chr5:131972808 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-5T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002043984] |
Chr5:132609278 [GRCh38]
Chr5:131944970 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2940dup (p.Asn981Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001892310] |
Chr5:132609298..132609299 [GRCh38]
Chr5:131944990..131944991 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1453-11T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001986024] |
Chr5:132591213 [GRCh38]
Chr5:131926905 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2288G>T (p.Arg763Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001986037] |
Chr5:132603380 [GRCh38]
Chr5:131939072 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1923T>G (p.Asp641Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020607] |
Chr5:132594998 [GRCh38]
Chr5:131930690 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1749A>G (p.Lys583=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002043917] |
Chr5:132591990 [GRCh38]
Chr5:131927682 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.3852_3855del (p.Glu1284fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001928452] |
Chr5:132642276..132642279 [GRCh38]
Chr5:131977968..131977971 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2283A>G (p.Ile761Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001891637] |
Chr5:132603375 [GRCh38]
Chr5:131939067 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1452+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002023768] |
Chr5:132589839 [GRCh38]
Chr5:131925531 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1313G>T (p.Gly438Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002001943] |
Chr5:132589698 [GRCh38]
Chr5:131925390 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.775G>C (p.Glu259Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002007633]|Nijmegen breakage syndrome-like disorder [RCV003464341] |
Chr5:132587580 [GRCh38]
Chr5:131923272 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3619-18A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002040721]|not provided [RCV004694134] |
Chr5:132640654 [GRCh38]
Chr5:131976346 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2747A>G (p.Glu916Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001872685] |
Chr5:132608643 [GRCh38]
Chr5:131944335 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1121T>C (p.Leu374Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001908342] |
Chr5:132588756 [GRCh38]
Chr5:131924448 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3704C>G (p.Thr1235Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002002629] |
Chr5:132640757 [GRCh38]
Chr5:131976449 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-6_2398-4del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001890112] |
Chr5:132603912..132603914 [GRCh38]
Chr5:131939604..131939606 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.445G>T (p.Ala149Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001911058] |
Chr5:132579396 [GRCh38]
Chr5:131915088 [GRCh37]
Chr5:5q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.1534G>A (p.Ala512Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001987061] |
Chr5:132591305 [GRCh38]
Chr5:131926997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2257_2260del (p.Lys753fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001912169] |
Chr5:132603345..132603348 [GRCh38]
Chr5:131939037..131939040 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3388C>A (p.Gln1130Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002021715] |
Chr5:132618293 [GRCh38]
Chr5:131953985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-11_2923-9del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001892505] |
Chr5:132609270..132609272 [GRCh38]
Chr5:131944962..131944964 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3794T>C (p.Leu1265Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001872335] |
Chr5:132642219 [GRCh38]
Chr5:131977911 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.933C>A (p.His311Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001894459] |
Chr5:132587971 [GRCh38]
Chr5:131923663 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.919_920del (p.Leu307fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001928721] |
Chr5:132587957..132587958 [GRCh38]
Chr5:131923649..131923650 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.356C>A (p.Thr119Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001967080] |
Chr5:132575919 [GRCh38]
Chr5:131911611 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1383G>T (p.Lys461Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001871496] |
Chr5:132589768 [GRCh38]
Chr5:131925460 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2523A>G (p.Thr841=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002022812] |
Chr5:132604045 [GRCh38]
Chr5:131939737 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3409A>C (p.Ser1137Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001895206] |
Chr5:132637134 [GRCh38]
Chr5:131972826 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.659C>T (p.Ala220Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001909516]|not provided [RCV003478896] |
Chr5:132579969 [GRCh38]
Chr5:131915661 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1970C>A (p.Ala657Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001890941] |
Chr5:132595573 [GRCh38]
Chr5:131931265 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1804G>A (p.Ala602Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001910730] |
Chr5:132594879 [GRCh38]
Chr5:131930571 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3068C>T (p.Thr1023Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001965589]|Nijmegen breakage syndrome-like disorder [RCV002258345] |
Chr5:132616034 [GRCh38]
Chr5:131951726 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3868A>T (p.Lys1290Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001890871] |
Chr5:132642293 [GRCh38]
Chr5:131977985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3002T>A (p.Met1001Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002004778] |
Chr5:132609362 [GRCh38]
Chr5:131945054 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2170A>G (p.Lys724Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002042841] |
Chr5:132595773 [GRCh38]
Chr5:131931465 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1123G>A (p.Ala375Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002006651] |
Chr5:132588758 [GRCh38]
Chr5:131924450 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.42T>A (p.Ser14Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001986328] |
Chr5:132557366 [GRCh38]
Chr5:131893058 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2038T>G (p.Cys680Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001968124] |
Chr5:132595641 [GRCh38]
Chr5:131931333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.947G>A (p.Arg316Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002041930] |
Chr5:132587985 [GRCh38]
Chr5:131923677 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2867dup (p.Tyr957fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002007175] |
Chr5:132609152..132609153 [GRCh38]
Chr5:131944844..131944845 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3841G>T (p.Glu1281Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001986662] |
Chr5:132642266 [GRCh38]
Chr5:131977958 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2525-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002021464] |
Chr5:132604805 [GRCh38]
Chr5:131940497 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3037-14A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002040177] |
Chr5:132615989 [GRCh38]
Chr5:131951681 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.77C>T (p.Thr26Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001966880] |
Chr5:132557401 [GRCh38]
Chr5:131893093 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2096G>A (p.Ser699Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002042928] |
Chr5:132595699 [GRCh38]
Chr5:131931391 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3446A>T (p.Asp1149Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002041715] |
Chr5:132637171 [GRCh38]
Chr5:131972863 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1204G>A (p.Glu402Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001983349] |
Chr5:132588839 [GRCh38]
Chr5:131924531 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.94A>C (p.Thr32Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002043409] |
Chr5:132557418 [GRCh38]
Chr5:131893110 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3425A>G (p.Glu1142Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001894689] |
Chr5:132637150 [GRCh38]
Chr5:131972842 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922G>A (p.Lys974=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020524] |
Chr5:132609209 [GRCh38]
Chr5:131944901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.429del (p.Val146fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002002393] |
Chr5:132579380 [GRCh38]
Chr5:131915072 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2996A>G (p.Glu999Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002040422] |
Chr5:132609356 [GRCh38]
Chr5:131945048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_005732.4(RAD50):c.1154G>T (p.Arg385Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020763] |
Chr5:132588789 [GRCh38]
Chr5:131924481 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001984026] |
Chr5:132604047 [GRCh38]
Chr5:131939739 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3362T>G (p.Leu1121Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001962344] |
Chr5:132618267 [GRCh38]
Chr5:131953959 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131893017)_(131915768_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001975255] |
Chr5:131893017..131915768 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2081_2084dup (p.Gln695fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001942289] |
Chr5:132595683..132595684 [GRCh38]
Chr5:131931375..131931376 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2491G>C (p.Glu831Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002038472] |
Chr5:132604013 [GRCh38]
Chr5:131939705 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2675_2676del (p.Val892fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001942206] |
Chr5:132604954..132604955 [GRCh38]
Chr5:131940646..131940647 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.879G>A (p.Met293Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002038906] |
Chr5:132587684 [GRCh38]
Chr5:131923376 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1607C>A (p.Thr536Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001960898] |
Chr5:132591378 [GRCh38]
Chr5:131927070 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.4T>A (p.Ser2Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002037159] |
Chr5:132557328 [GRCh38]
Chr5:131893020 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.601C>T (p.Gln201Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001962963] |
Chr5:132579911 [GRCh38]
Chr5:131915603 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.872A>G (p.Glu291Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001943228] |
Chr5:132587677 [GRCh38]
Chr5:131923369 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3619-12G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002035169] |
Chr5:132640660 [GRCh38]
Chr5:131976352 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.294A>T (p.Arg98Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001998948] |
Chr5:132575857 [GRCh38]
Chr5:131911549 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1340C>G (p.Ser447Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002037749] |
Chr5:132589725 [GRCh38]
Chr5:131925417 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3379A>G (p.Thr1127Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001932701] |
Chr5:132618284 [GRCh38]
Chr5:131953976 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-19del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001937163] |
Chr5:132591858 [GRCh38]
Chr5:131927550 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2524+12T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001888483] |
Chr5:132604058 [GRCh38]
Chr5:131939750 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001898298] |
Chr5:132588885 [GRCh38]
Chr5:131924577 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3176A>G (p.Lys1059Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001923232] |
Chr5:132618081 [GRCh38]
Chr5:131953773 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.347G>C (p.Gly116Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020225] |
Chr5:132575910 [GRCh38]
Chr5:131911602 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.655_657dup (p.Lys219dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001864762] |
Chr5:132579962..132579963 [GRCh38]
Chr5:131915654..131915655 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002018264] |
Chr5:132575810 [GRCh38]
Chr5:131911502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2902G>T (p.Gly968Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001941451] |
Chr5:132609189 [GRCh38]
Chr5:131944881 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.7C>T (p.Arg3Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001942880] |
Chr5:132557331 [GRCh38]
Chr5:131893023 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1601_1630dup (p.Lys543_Asp544insAlaArgThrGlnMetGluMetLeuThrLys) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002017279] |
Chr5:132591371..132591372 [GRCh38]
Chr5:131927063..131927064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2815A>T (p.Ile939Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002015040] |
Chr5:132608711 [GRCh38]
Chr5:131944403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3896T>C (p.Ile1299Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001937640] |
Chr5:132642321 [GRCh38]
Chr5:131978013 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2678A>C (p.Glu893Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001963519] |
Chr5:132604959 [GRCh38]
Chr5:131940651 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1701_1708dup (p.Phe570fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001979736] |
Chr5:132591939..132591940 [GRCh38]
Chr5:131927631..131927632 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1769C>T (p.Thr590Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002046125] |
Chr5:132592010 [GRCh38]
Chr5:131927702 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001951064]|Nijmegen breakage syndrome-like disorder [RCV003483867] |
Chr5:132637182..132637183 [GRCh38]
Chr5:131972874..131972875 [GRCh37]
Chr5:5q31.1 |
pathogenic|not provided |
| NM_005732.4(RAD50):c.1928A>G (p.Asp643Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002011108] |
Chr5:132595003 [GRCh38]
Chr5:131930695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.40A>G (p.Ser14Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001887887] |
Chr5:132557364 [GRCh38]
Chr5:131893056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.468del (p.Cys157fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001941466] |
Chr5:132579419 [GRCh38]
Chr5:131915111 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1382A>G (p.Lys461Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001989242] |
Chr5:132589767 [GRCh38]
Chr5:131925459 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.527T>C (p.Phe176Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001976170] |
Chr5:132579478 [GRCh38]
Chr5:131915170 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2788A>G (p.Ile930Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001962223] |
Chr5:132608684 [GRCh38]
Chr5:131944376 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2763G>C (p.Lys921Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001883723] |
Chr5:132608659 [GRCh38]
Chr5:131944351 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1821T>G (p.Asn607Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001998758] |
Chr5:132594896 [GRCh38]
Chr5:131930588 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.611A>G (p.Lys204Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001906287] |
Chr5:132579921 [GRCh38]
Chr5:131915613 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3455G>T (p.Arg1152Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020157] |
Chr5:132637180 [GRCh38]
Chr5:131972872 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2989A>G (p.Ile997Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002020165] |
Chr5:132609349 [GRCh38]
Chr5:131945041 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+4T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001962233] |
Chr5:132616134 [GRCh38]
Chr5:131951826 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.485C>T (p.Ser162Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001942977] |
Chr5:132579436 [GRCh38]
Chr5:131915128 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2868_2869insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATATTCATGGC (p.Gly956_Tyr957insGluLeuAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaThrGluArgAspSerValSerLysLysLysLysLysLysLysLysXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleHisGly) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001941645] |
Chr5:132609140..132609141 [GRCh38]
Chr5:131944832..131944833 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.761G>T (p.Arg254Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001881608] |
Chr5:132587566 [GRCh38]
Chr5:131923258 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1960A>C (p.Lys654Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001961757] |
Chr5:132595035 [GRCh38]
Chr5:131930727 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3413T>C (p.Met1138Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002017824] |
Chr5:132637138 [GRCh38]
Chr5:131972830 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1737G>A (p.Trp579Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001956335] |
Chr5:132591978 [GRCh38]
Chr5:131927670 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2350A>G (p.Ser784Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001956926] |
Chr5:132603442 [GRCh38]
Chr5:131939134 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1324A>T (p.Ile442Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001880317] |
Chr5:132589709 [GRCh38]
Chr5:131925401 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3141A>C (p.Gln1047His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001977328] |
Chr5:132616107 [GRCh38]
Chr5:131951799 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3278G>T (p.Arg1093Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002010447] |
Chr5:132618183 [GRCh38]
Chr5:131953875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2264A>G (p.Gln755Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002050790] |
Chr5:132603356 [GRCh38]
Chr5:131939048 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.153T>A (p.Tyr51Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001920542] |
Chr5:132559307 [GRCh38]
Chr5:131894999 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.593C>T (p.Thr198Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001917905] |
Chr5:132579903 [GRCh38]
Chr5:131915595 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131911463)_(131911626_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001956432] |
Chr5:131911463..131911626 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1246-20T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002030764] |
Chr5:132589611 [GRCh38]
Chr5:131925303 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1331A>T (p.Glu444Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002011803] |
Chr5:132589716 [GRCh38]
Chr5:131925408 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3795_3815dup (p.Glu1271_Asp1272insGluValIleThrHisAspGlu) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002048271] |
Chr5:132642219..132642220 [GRCh38]
Chr5:131977911..131977912 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1421_1439del (p.Ile474fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001994469] |
Chr5:132589801..132589819 [GRCh38]
Chr5:131925493..131925511 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.103G>A (p.Val35Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001975727] |
Chr5:132557427 [GRCh38]
Chr5:131893119 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3237A>T (p.Lys1079Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002010851] |
Chr5:132618142 [GRCh38]
Chr5:131953834 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1266_1267del (p.Glu422fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV001953434] |
Chr5:132589648..132589649 [GRCh38]
Chr5:131925340..131925341 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1678A>C (p.Ser560Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001876621] |
Chr5:132591919 [GRCh38]
Chr5:131927611 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1766A>G (p.Gln589Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001898381]|not provided [RCV003478891] |
Chr5:132592007 [GRCh38]
Chr5:131927699 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3649dup (p.Leu1217fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001994588] |
Chr5:132640699..132640700 [GRCh38]
Chr5:131976391..131976392 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1712C>T (p.Pro571Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001991500] |
Chr5:132591953 [GRCh38]
Chr5:131927645 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3493del (p.Ile1165fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001932875] |
Chr5:132638096 [GRCh38]
Chr5:131973788 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.248G>A (p.Arg83His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002048579] |
Chr5:132575811 [GRCh38]
Chr5:131911503 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.492G>T (p.Trp164Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001975791] |
Chr5:132579443 [GRCh38]
Chr5:131915135 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2407A>G (p.Lys803Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001992859] |
Chr5:132603929 [GRCh38]
Chr5:131939621 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2864A>G (p.His955Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001990330] |
Chr5:132609151 [GRCh38]
Chr5:131944843 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.448G>A (p.Val150Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001878040] |
Chr5:132579399 [GRCh38]
Chr5:131915091 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.378G>C (p.Lys126Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001991635] |
Chr5:132579329 [GRCh38]
Chr5:131915021 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3835C>G (p.Arg1279Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002032306] |
Chr5:132642260 [GRCh38]
Chr5:131977952 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+6A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001989101] |
Chr5:132588095 [GRCh38]
Chr5:131923787 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3137G>A (p.Gly1046Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001930372] |
Chr5:132616103 [GRCh38]
Chr5:131951795 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3772C>T (p.Gln1258Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001976018] |
Chr5:132642197 [GRCh38]
Chr5:131977889 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3476-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002028938] |
Chr5:132638079 [GRCh38]
Chr5:131973771 [GRCh37]
Chr5:5q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005732.4(RAD50):c.2559A>G (p.Ile853Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001955230]|RAD50-related disorder [RCV003407979] |
Chr5:132604840 [GRCh38]
Chr5:131940532 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.941C>T (p.Thr314Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001899802] |
Chr5:132587979 [GRCh38]
Chr5:131923671 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3291T>G (p.Phe1097Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001876970] |
Chr5:132618196 [GRCh38]
Chr5:131953888 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2641_2642del (p.Leu881fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001881964] |
Chr5:132604921..132604922 [GRCh38]
Chr5:131940613..131940614 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3157A>G (p.Met1053Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001978324] |
Chr5:132616123 [GRCh38]
Chr5:131951815 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001989275] |
Chr5:132609397 [GRCh38]
Chr5:131945089 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3176A>C (p.Lys1059Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001931990] |
Chr5:132618081 [GRCh38]
Chr5:131953773 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.671G>C (p.Arg224Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001922202] |
Chr5:132579981 [GRCh38]
Chr5:131915673 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131931255)_(131931512_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001951312] |
Chr5:131931255..131931512 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1969+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001991956] |
Chr5:132595045 [GRCh38]
Chr5:131930737 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.860G>A (p.Ser287Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001933348] |
Chr5:132587665 [GRCh38]
Chr5:131923357 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.970G>C (p.Asp324His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001977767] |
Chr5:132588008 [GRCh38]
Chr5:131923700 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.91C>A (p.Leu31Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001954050] |
Chr5:132557415 [GRCh38]
Chr5:131893107 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1198G>T (p.Val400Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001921108] |
Chr5:132588833 [GRCh38]
Chr5:131924525 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3890C>A (p.Ser1297Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002015450] |
Chr5:132642315 [GRCh38]
Chr5:131978007 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1083A>C (p.Gln361His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002030517] |
Chr5:132588718 [GRCh38]
Chr5:131924410 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1370del (p.Leu457fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001920278] |
Chr5:132589755 [GRCh38]
Chr5:131925447 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3201A>G (p.Ile1067Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001936866] |
Chr5:132618106 [GRCh38]
Chr5:131953798 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.342G>A (p.Leu114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002018150] |
Chr5:132575905 [GRCh38]
Chr5:131911597 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2057G>C (p.Arg686Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001989633] |
Chr5:132595660 [GRCh38]
Chr5:131931352 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.826G>C (p.Asp276His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001920308] |
Chr5:132587631 [GRCh38]
Chr5:131923323 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3214_3217del (p.Asn1072fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002035494] |
Chr5:132618118..132618121 [GRCh38]
Chr5:131953810..131953813 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2378C>G (p.Thr793Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001996450] |
Chr5:132603470 [GRCh38]
Chr5:131939162 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2308G>A (p.Glu770Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002033685] |
Chr5:132603400 [GRCh38]
Chr5:131939092 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2607G>T (p.Glu869Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001991105] |
Chr5:132604888 [GRCh38]
Chr5:131940580 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2983_2985del (p.Glu995del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002033699] |
Chr5:132609341..132609343 [GRCh38]
Chr5:131945033..131945035 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001960948] |
Chr5:132557434 [GRCh38]
Chr5:131893126 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885G>T (p.Lys295Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001972929] |
Chr5:132587690 [GRCh38]
Chr5:131923382 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1802T>C (p.Leu601Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002015331] |
Chr5:132594877 [GRCh38]
Chr5:131930569 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.619C>G (p.Gln207Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001956748] |
Chr5:132579929 [GRCh38]
Chr5:131915621 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2590A>G (p.Lys864Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002028436] |
Chr5:132604871 [GRCh38]
Chr5:131940563 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.808A>C (p.Asn270His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002014533] |
Chr5:132587613 [GRCh38]
Chr5:131923305 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2706C>G (p.Tyr902Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001903928] |
Chr5:132604987 [GRCh38]
Chr5:131940679 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1561C>G (p.Leu521Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001939170] |
Chr5:132591332 [GRCh38]
Chr5:131927024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001974315] |
Chr5:132605000 [GRCh38]
Chr5:131940692 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2987A>G (p.Lys996Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001953390] |
Chr5:132609347 [GRCh38]
Chr5:131945039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3619-15G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001884615] |
Chr5:132640657 [GRCh38]
Chr5:131976349 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3863G>C (p.Arg1288Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001981952]|Nijmegen breakage syndrome-like disorder [RCV003339837] |
Chr5:132642288 [GRCh38]
Chr5:131977980 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2869T>C (p.Tyr957His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001988903] |
Chr5:132609156 [GRCh38]
Chr5:131944848 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1303A>G (p.Lys435Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002010839] |
Chr5:132589688 [GRCh38]
Chr5:131925380 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3744del (p.Leu1249fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002013500] |
Chr5:132640797 [GRCh38]
Chr5:131976489 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1758A>C (p.Glu586Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001931669] |
Chr5:132591999 [GRCh38]
Chr5:131927691 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1450G>C (p.Ala484Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002013534] |
Chr5:132589835 [GRCh38]
Chr5:131925527 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131893011)_(131893151_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV001950982] |
Chr5:131893011..131893151 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3322A>T (p.Met1108Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002047444] |
Chr5:132618227 [GRCh38]
Chr5:131953919 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2909A>G (p.Asp970Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001924770] |
Chr5:132609196 [GRCh38]
Chr5:131944888 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001939362]|Nijmegen breakage syndrome-like disorder [RCV002258340] |
Chr5:132595696..132595697 [GRCh38]
Chr5:131931388..131931389 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.239C>G (p.Ala80Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001885445] |
Chr5:132575802 [GRCh38]
Chr5:131911494 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1534G>C (p.Ala512Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002046165] |
Chr5:132591305 [GRCh38]
Chr5:131926997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.304T>G (p.Cys102Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002046175] |
Chr5:132575867 [GRCh38]
Chr5:131911559 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.217G>C (p.Ala73Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001917229] |
Chr5:132575780 [GRCh38]
Chr5:131911472 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2951T>C (p.Ile984Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001901221] |
Chr5:132609311 [GRCh38]
Chr5:131945003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3734T>C (p.Leu1245Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002019698] |
Chr5:132640787 [GRCh38]
Chr5:131976479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1054C>G (p.Arg352Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001919927] |
Chr5:132588689 [GRCh38]
Chr5:131924381 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1538A>G (p.Asp513Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001918591] |
Chr5:132591309 [GRCh38]
Chr5:131927001 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1562T>C (p.Leu521Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001883564] |
Chr5:132591333 [GRCh38]
Chr5:131927025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2449C>T (p.Gln817Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001918925] |
Chr5:132603971 [GRCh38]
Chr5:131939663 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.921dup (p.Tyr308fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001993384] |
Chr5:132587958..132587959 [GRCh38]
Chr5:131923650..131923651 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3753-20T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001951573] |
Chr5:132642158 [GRCh38]
Chr5:131977850 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3341C>G (p.Thr1114Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001877081] |
Chr5:132618246 [GRCh38]
Chr5:131953938 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2920A>G (p.Lys974Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001883840] |
Chr5:132609207 [GRCh38]
Chr5:131944899 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.289C>T (p.Gln97Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001979865] |
Chr5:132575852 [GRCh38]
Chr5:131911544 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3038T>C (p.Ile1013Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001898785] |
Chr5:132616004 [GRCh38]
Chr5:131951696 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1895T>C (p.Val632Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001979650] |
Chr5:132594970 [GRCh38]
Chr5:131930662 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.756+5C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001979487] |
Chr5:132580071 [GRCh38]
Chr5:131915763 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.815_819del (p.Ile272fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001959124] |
Chr5:132587617..132587621 [GRCh38]
Chr5:131923309..131923313 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.104T>C (p.Val35Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001940224] |
Chr5:132557428 [GRCh38]
Chr5:131893120 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3262T>C (p.Phe1088Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001938719] |
Chr5:132618167 [GRCh38]
Chr5:131953859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1927del (p.Asp643fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001981419] |
Chr5:132595002 [GRCh38]
Chr5:131930694 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.253C>A (p.Gln85Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001999254] |
Chr5:132575816 [GRCh38]
Chr5:131911508 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2752A>G (p.Thr918Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001980280] |
Chr5:132608648 [GRCh38]
Chr5:131944340 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-12C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001939215] |
Chr5:132559272 [GRCh38]
Chr5:131894964 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3214A>T (p.Asn1072Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001938756] |
Chr5:132618119 [GRCh38]
Chr5:131953811 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3143T>C (p.Met1048Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001883450] |
Chr5:132616109 [GRCh38]
Chr5:131951801 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3051G>T (p.Trp1017Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001982028] |
Chr5:132616017 [GRCh38]
Chr5:131951709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.497del (p.Pro165_Leu166insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001938202] |
Chr5:132579446 [GRCh38]
Chr5:131915138 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3320T>C (p.Met1107Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001884776] |
Chr5:132618225 [GRCh38]
Chr5:131953917 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2066A>G (p.Gln689Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001998046] |
Chr5:132595669 [GRCh38]
Chr5:131931361 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001981340] |
Chr5:132618297 [GRCh38]
Chr5:131953989 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.623T>C (p.Met208Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002010583] |
Chr5:132579933 [GRCh38]
Chr5:131915625 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.361A>G (p.Thr121Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002027176] |
Chr5:132575924 [GRCh38]
Chr5:131911616 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2860A>G (p.Ile954Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001867088] |
Chr5:132609147 [GRCh38]
Chr5:131944839 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1089T>A (p.His363Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001992592] |
Chr5:132588724 [GRCh38]
Chr5:131924416 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+8del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002011472] |
Chr5:132592042 [GRCh38]
Chr5:131927734 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.735G>C (p.Glu245Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001899851] |
Chr5:132580045 [GRCh38]
Chr5:131915737 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.984A>C (p.Glu328Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002031517] |
Chr5:132588022 [GRCh38]
Chr5:131923714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002009857] |
Chr5:132557457 [GRCh38]
Chr5:131893149 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2499_2501del (p.Glu834del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001955697] |
Chr5:132604020..132604022 [GRCh38]
Chr5:131939712..131939714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.757-12C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001956630]|Nijmegen breakage syndrome-like disorder [RCV002258347] |
Chr5:132587550 [GRCh38]
Chr5:131923242 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.365+16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002016540] |
Chr5:132575944 [GRCh38]
Chr5:131911636 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1256C>A (p.Ala419Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001867342] |
Chr5:132589641 [GRCh38]
Chr5:131925333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3053dup (p.Gln1019fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001975024] |
Chr5:132616018..132616019 [GRCh38]
Chr5:131951710..131951711 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1424T>C (p.Leu475Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002009832] |
Chr5:132589809 [GRCh38]
Chr5:131925501 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.431T>C (p.Leu144Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002050813] |
Chr5:132579382 [GRCh38]
Chr5:131915074 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.328_329del (p.Glu110fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001951333] |
Chr5:132575890..132575891 [GRCh38]
Chr5:131911582..131911583 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.128_129insT (p.Thr44fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV001975113] |
Chr5:132557452..132557453 [GRCh38]
Chr5:131893144..131893145 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.139G>T (p.Glu47Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001934479]|Nijmegen breakage syndrome-like disorder [RCV003464182] |
Chr5:132559293 [GRCh38]
Chr5:131894985 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1904G>A (p.Ser635Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001989363] |
Chr5:132594979 [GRCh38]
Chr5:131930671 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2842A>G (p.Lys948Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001973387] |
Chr5:132609129 [GRCh38]
Chr5:131944821 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3668T>C (p.Leu1223Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001955177] |
Chr5:132640721 [GRCh38]
Chr5:131976413 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1621C>G (p.Leu541Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002051127] |
Chr5:132591392 [GRCh38]
Chr5:131927084 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3080_3081del (p.Arg1027fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001923389] |
Chr5:132616045..132616046 [GRCh38]
Chr5:131951737..131951738 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3866T>C (p.Ile1289Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001883379] |
Chr5:132642291 [GRCh38]
Chr5:131977983 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.809A>G (p.Asn270Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001977006] |
Chr5:132587614 [GRCh38]
Chr5:131923306 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3819dup (p.Val1274fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001934635] |
Chr5:132642240..132642241 [GRCh38]
Chr5:131977932..131977933 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2234del (p.Lys745fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001958668] |
Chr5:132603325 [GRCh38]
Chr5:131939017 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3483A>G (p.Glu1161=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002206853] |
Chr5:132638088 [GRCh38]
Chr5:131973780 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+19_3618+32delinsAGTT |
indel |
Hereditary cancer-predisposing syndrome [RCV002209097] |
Chr5:132638242..132638255 [GRCh38]
Chr5:131973934..131973947 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3037-20A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002112479] |
Chr5:132615983 [GRCh38]
Chr5:131951675 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002125522] |
Chr5:132559379 [GRCh38]
Chr5:131895071 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+10T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002185705] |
Chr5:132605009 [GRCh38]
Chr5:131940701 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+11A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002105139] |
Chr5:132592045 [GRCh38]
Chr5:131927737 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-9A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002166956] |
Chr5:132603911 [GRCh38]
Chr5:131939603 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.369T>C (p.His123=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002187729] |
Chr5:132579320 [GRCh38]
Chr5:131915012 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-12A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002090333] |
Chr5:132579850 [GRCh38]
Chr5:131915542 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-3dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002112121] |
Chr5:132608607..132608608 [GRCh38]
Chr5:131944299..131944300 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1636-9dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002086414] |
Chr5:132591858..132591859 [GRCh38]
Chr5:131927550..131927551 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.744T>G (p.Leu248=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002145482] |
Chr5:132580054 [GRCh38]
Chr5:131915746 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.751T>C (p.Leu251=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002106051] |
Chr5:132580061 [GRCh38]
Chr5:131915753 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002090801] |
Chr5:132594851 [GRCh38]
Chr5:131930543 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002090807] |
Chr5:132591214 [GRCh38]
Chr5:131926906 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002190869] |
Chr5:132609266 [GRCh38]
Chr5:131944958 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.786C>T (p.Leu262=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002130479] |
Chr5:132587591 [GRCh38]
Chr5:131923283 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2525-13T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002210857] |
Chr5:132604793 [GRCh38]
Chr5:131940485 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+18A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002106350] |
Chr5:132575946 [GRCh38]
Chr5:131911638 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3261T>C (p.His1087=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002186456] |
Chr5:132618166 [GRCh38]
Chr5:131953858 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3180G>A (p.Leu1060=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002209176] |
Chr5:132618085 [GRCh38]
Chr5:131953777 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3598C>A (p.Arg1200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002208187] |
Chr5:132638203 [GRCh38]
Chr5:131973895 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+16dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002191760] |
Chr5:132588102..132588103 [GRCh38]
Chr5:131923794..131923795 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1224A>C (p.Ala408=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002129075] |
Chr5:132588859 [GRCh38]
Chr5:131924551 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.342G>T (p.Leu114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002089466] |
Chr5:132575905 [GRCh38]
Chr5:131911597 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-20C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002074934] |
Chr5:132637095 [GRCh38]
Chr5:131972787 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.9G>A (p.Arg3=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002149207] |
Chr5:132557333 [GRCh38]
Chr5:131893025 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1635+12C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002146285] |
Chr5:132591418 [GRCh38]
Chr5:131927110 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+14T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002188374] |
Chr5:132637214 [GRCh38]
Chr5:131972906 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2490G>A (p.Gln830=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002104854] |
Chr5:132604012 [GRCh38]
Chr5:131939704 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2037A>G (p.Ser679=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002190492] |
Chr5:132595640 [GRCh38]
Chr5:131931332 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-14G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002091816] |
Chr5:132603906 [GRCh38]
Chr5:131939598 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-12T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002170034] |
Chr5:132608603 [GRCh38]
Chr5:131944295 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-12T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002075349] |
Chr5:132638069 [GRCh38]
Chr5:131973761 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1452+9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002128943] |
Chr5:132589846 [GRCh38]
Chr5:131925538 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002112421] |
Chr5:132591859 [GRCh38]
Chr5:131927551 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+14T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002126978] |
Chr5:132559381 [GRCh38]
Chr5:131895073 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-13G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002106146] |
Chr5:132640659 [GRCh38]
Chr5:131976351 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2442T>C (p.Ala814=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002074528] |
Chr5:132603964 [GRCh38]
Chr5:131939656 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+13del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002104542] |
Chr5:132592047 [GRCh38]
Chr5:131927739 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-6dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002165677] |
Chr5:132588671..132588672 [GRCh38]
Chr5:131924363..131924364 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1793+11A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002129297] |
Chr5:132592045 [GRCh38]
Chr5:131927737 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002106619] |
Chr5:132579850 [GRCh38]
Chr5:131915542 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3448C>T (p.Leu1150=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002188035] |
Chr5:132637173 [GRCh38]
Chr5:131972865 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+11C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002164847] |
Chr5:132604057 [GRCh38]
Chr5:131939749 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002187234] |
Chr5:132595056 [GRCh38]
Chr5:131930748 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3891A>C (p.Ser1297=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002086762] |
Chr5:132642316 [GRCh38]
Chr5:131978008 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002088171] |
Chr5:132638063 [GRCh38]
Chr5:131973755 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+13G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002210156] |
Chr5:132637213 [GRCh38]
Chr5:131972905 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+11G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002108133] |
Chr5:132595821 [GRCh38]
Chr5:131931513 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-14T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002147900] |
Chr5:132603286 [GRCh38]
Chr5:131938978 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2751A>G (p.Thr917=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002192170] |
Chr5:132608647 [GRCh38]
Chr5:131944339 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+19C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002088129] |
Chr5:132557472 [GRCh38]
Chr5:131893164 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3891A>G (p.Ser1297=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002109766] |
Chr5:132642316 [GRCh38]
Chr5:131978008 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002088416]|not provided [RCV003478934] |
Chr5:132603291 [GRCh38]
Chr5:131938983 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2013T>C (p.Thr671=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002071782]|not provided [RCV003478940] |
Chr5:132595616 [GRCh38]
Chr5:131931308 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-19G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002185582] |
Chr5:132588668 [GRCh38]
Chr5:131924360 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.603G>A (p.Gln201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002167810] |
Chr5:132579913 [GRCh38]
Chr5:131915605 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-11del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002085376] |
Chr5:132608599 [GRCh38]
Chr5:131944291 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1453-18G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002125644] |
Chr5:132591206 [GRCh38]
Chr5:131926898 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+20_2524+22del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002110034] |
Chr5:132604064..132604066 [GRCh38]
Chr5:131939756..131939758 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002190438] |
Chr5:132557466 [GRCh38]
Chr5:131893158 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2916T>C (p.Tyr972=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002194083] |
Chr5:132609203 [GRCh38]
Chr5:131944895 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.573A>T (p.Thr191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002206058] |
Chr5:132579883 [GRCh38]
Chr5:131915575 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1461G>A (p.Glu487=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002114531] |
Chr5:132591232 [GRCh38]
Chr5:131926924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-11A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002096166] |
Chr5:132579306 [GRCh38]
Chr5:131914998 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+19T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002216377] |
Chr5:132588108 [GRCh38]
Chr5:131923800 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.69A>G (p.Gln23=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002196109] |
Chr5:132557393 [GRCh38]
Chr5:131893085 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1533A>G (p.Lys511=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002086391] |
Chr5:132591304 [GRCh38]
Chr5:131926996 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002215980] |
Chr5:132637098 [GRCh38]
Chr5:131972790 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1272G>A (p.Leu424=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002171884] |
Chr5:132589657 [GRCh38]
Chr5:131925349 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+15A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002078429] |
Chr5:132609224 [GRCh38]
Chr5:131944916 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3162A>G (p.Lys1054=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002172570] |
Chr5:132616128 [GRCh38]
Chr5:131951820 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-15T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002151343] |
Chr5:132559269 [GRCh38]
Chr5:131894961 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.885+13A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002196688] |
Chr5:132587703 [GRCh38]
Chr5:131923395 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1317G>T (p.Leu439=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002134551] |
Chr5:132589702 [GRCh38]
Chr5:131925394 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+14G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002197402] |
Chr5:132609410 [GRCh38]
Chr5:131945102 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-5dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002132308] |
Chr5:132640661..132640662 [GRCh38]
Chr5:131976353..131976354 [GRCh37]
Chr5:5q31.1 |
benign|likely benign |
| NM_005732.4(RAD50):c.408T>A (p.Ile136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002076617] |
Chr5:132579359 [GRCh38]
Chr5:131915051 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2058A>G (p.Arg686=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002170861] |
Chr5:132595661 [GRCh38]
Chr5:131931353 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-18C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002080280] |
Chr5:132642160 [GRCh38]
Chr5:131977852 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+9C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002127096] |
Chr5:132579511 [GRCh38]
Chr5:131915203 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-20C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002147980] |
Chr5:132603900 [GRCh38]
Chr5:131939592 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+13T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002093790] |
Chr5:132608738 [GRCh38]
Chr5:131944430 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+16A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002170903] |
Chr5:132616146 [GRCh38]
Chr5:131951838 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1917A>G (p.Glu639=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002170924] |
Chr5:132594992 [GRCh38]
Chr5:131930684 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002214980] |
Chr5:132608597 [GRCh38]
Chr5:131944289 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.93T>C (p.Leu31=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002080562] |
Chr5:132557417 [GRCh38]
Chr5:131893109 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.549A>C (p.Thr183=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002076895] |
Chr5:132579500 [GRCh38]
Chr5:131915192 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.447T>G (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002109631] |
Chr5:132579398 [GRCh38]
Chr5:131915090 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+19T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002153739] |
Chr5:132609228 [GRCh38]
Chr5:131944920 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+18A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002216002] |
Chr5:132609414 [GRCh38]
Chr5:131945106 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-17G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002153756] |
Chr5:132588670 [GRCh38]
Chr5:131924362 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-6_2923-5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002081008] |
Chr5:132609273..132609274 [GRCh38]
Chr5:131944965..131944966 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2277A>G (p.Arg759=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002106948] |
Chr5:132603369 [GRCh38]
Chr5:131939061 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+12T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002090016] |
Chr5:132579514 [GRCh38]
Chr5:131915206 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+18A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002116723] |
Chr5:132559385 [GRCh38]
Chr5:131895077 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2641T>C (p.Leu881=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002146553] |
Chr5:132604922 [GRCh38]
Chr5:131940614 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3909T>C (p.Ser1303=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002195834] |
Chr5:132642334 [GRCh38]
Chr5:131978026 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002194499] |
Chr5:132594858 [GRCh38]
Chr5:131930550 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+17C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002131877] |
Chr5:132638240 [GRCh38]
Chr5:131973932 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+16C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002117363] |
Chr5:132559383 [GRCh38]
Chr5:131895075 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1881C>T (p.Asp627=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002077618] |
Chr5:132594956 [GRCh38]
Chr5:131930648 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1399T>C (p.Leu467=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002077701] |
Chr5:132589784 [GRCh38]
Chr5:131925476 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1635+14T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002215845] |
Chr5:132591420 [GRCh38]
Chr5:131927112 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-6_3753-4del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002195607] |
Chr5:132642169..132642171 [GRCh38]
Chr5:131977861..131977863 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.723C>G (p.Val241=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002190731] |
Chr5:132580033 [GRCh38]
Chr5:131915725 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1038G>C (p.Leu346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002172334] |
Chr5:132588076 [GRCh38]
Chr5:131923768 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002215872] |
Chr5:132609221 [GRCh38]
Chr5:131944913 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1246-12A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002117396] |
Chr5:132589619 [GRCh38]
Chr5:131925311 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-9_2719-2dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002079209] |
Chr5:132608599..132608600 [GRCh38]
Chr5:131944291..131944292 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002078071] |
Chr5:132559272 [GRCh38]
Chr5:131894964 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+17C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002130514] |
Chr5:132638240 [GRCh38]
Chr5:131973932 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+13C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002112877] |
Chr5:132618307 [GRCh38]
Chr5:131953999 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+13T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002076529] |
Chr5:132608738 [GRCh38]
Chr5:131944430 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3906C>T (p.Cys1302=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002130591] |
Chr5:132642331 [GRCh38]
Chr5:131978023 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3306A>G (p.Glu1102=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002149111] |
Chr5:132618211 [GRCh38]
Chr5:131953903 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-12C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002114498] |
Chr5:132579305 [GRCh38]
Chr5:131914997 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-15T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002078147] |
Chr5:132587547 [GRCh38]
Chr5:131923239 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-18C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002078160] |
Chr5:132642160 [GRCh38]
Chr5:131977852 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-7T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002212461] |
Chr5:132579310 [GRCh38]
Chr5:131915002 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+8G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002111115] |
Chr5:132595052 [GRCh38]
Chr5:131930744 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.105T>C (p.Val35=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002209680] |
Chr5:132557429 [GRCh38]
Chr5:131893121 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2442T>A (p.Ala814=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002077461] |
Chr5:132603964 [GRCh38]
Chr5:131939656 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+18C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002115544] |
Chr5:132588898 [GRCh38]
Chr5:131924590 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-17T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002112723] |
Chr5:132587545 [GRCh38]
Chr5:131923237 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002130809] |
Chr5:132605017 [GRCh38]
Chr5:131940709 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3075A>G (p.Arg1025=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002194233] |
Chr5:132616041 [GRCh38]
Chr5:131951733 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1864T>C (p.Leu622=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002213290] |
Chr5:132594939 [GRCh38]
Chr5:131930631 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-20T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002115589] |
Chr5:132608595 [GRCh38]
Chr5:131944287 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+19T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002164809] |
Chr5:132575947 [GRCh38]
Chr5:131911639 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1970-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002108159] |
Chr5:132595562 [GRCh38]
Chr5:131931254 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1380G>C (p.Val460=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002170547] |
Chr5:132589765 [GRCh38]
Chr5:131925457 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.886-7T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002193640] |
Chr5:132587917 [GRCh38]
Chr5:131923609 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-20G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002078324] |
Chr5:132591857 [GRCh38]
Chr5:131927549 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+13_2922+14del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002214799] |
Chr5:132609222..132609223 [GRCh38]
Chr5:131944914..131944915 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1246-16T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002172475] |
Chr5:132589615 [GRCh38]
Chr5:131925307 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+15_2922+19del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002190485] |
Chr5:132609223..132609227 [GRCh38]
Chr5:131944915..131944919 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1395G>A (p.Gln465=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002171326] |
Chr5:132589780 [GRCh38]
Chr5:131925472 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3873G>A (p.Lys1291=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002193254] |
Chr5:132642298 [GRCh38]
Chr5:131977990 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+21_1969+23del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002212810] |
Chr5:132595062..132595064 [GRCh38]
Chr5:131930754..131930756 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-10_1636-9dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002151278] |
Chr5:132591858..132591859 [GRCh38]
Chr5:131927550..131927551 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.780T>C (p.His260=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002213460] |
Chr5:132587585 [GRCh38]
Chr5:131923277 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3468T>G (p.Arg1156=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002149705] |
Chr5:132637193 [GRCh38]
Chr5:131972885 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2525-6G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002193281] |
Chr5:132604800 [GRCh38]
Chr5:131940492 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3165-17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002076668] |
Chr5:132618053 [GRCh38]
Chr5:131953745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2145A>C (p.Thr715=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002097026] |
Chr5:132595748 [GRCh38]
Chr5:131931440 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+12G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002093329] |
Chr5:132637212 [GRCh38]
Chr5:131972904 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.120G>A (p.Ala40=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002169682] |
Chr5:132557444 [GRCh38]
Chr5:131893136 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+19T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002150756] |
Chr5:132575947 [GRCh38]
Chr5:131911639 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-17del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002152540] |
Chr5:132642161 [GRCh38]
Chr5:131977853 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+7A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002113745] |
Chr5:132637207 [GRCh38]
Chr5:131972899 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1107A>G (p.Ser369=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002171202] |
Chr5:132588742 [GRCh38]
Chr5:131924434 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002077041] |
Chr5:132559384 [GRCh38]
Chr5:131895076 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+22_2829+26del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002113532] |
Chr5:132608745..132608749 [GRCh38]
Chr5:131944437..131944441 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+10_3618+11del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002196984] |
Chr5:132638231..132638232 [GRCh38]
Chr5:131973923..131973924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1071A>T (p.Ala357=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002085094] |
Chr5:132588706 [GRCh38]
Chr5:131924398 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002189328] |
Chr5:132595061 [GRCh38]
Chr5:131930753 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002089081] |
Chr5:132605011 [GRCh38]
Chr5:131940703 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.886-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002130303] |
Chr5:132587919 [GRCh38]
Chr5:131923611 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2622A>G (p.Lys874=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002193454] |
Chr5:132604903 [GRCh38]
Chr5:131940595 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+15G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002194013] |
Chr5:132637215 [GRCh38]
Chr5:131972907 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2769G>A (p.Gln923=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002194539] |
Chr5:132608665 [GRCh38]
Chr5:131944357 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.385C>T (p.Leu129=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002174650] |
Chr5:132579336 [GRCh38]
Chr5:131915028 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-20C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002128704] |
Chr5:132637095 [GRCh38]
Chr5:131972787 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1452+7T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002213696] |
Chr5:132589844 [GRCh38]
Chr5:131925536 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2124T>A (p.Ala708=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002157470] |
Chr5:132595727 [GRCh38]
Chr5:131931419 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3938_*30dup (p.Ter1313=) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002136966] |
Chr5:132642361..132642362 [GRCh38]
Chr5:131978053..131978054 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.381C>A (p.Val127=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002177090] |
Chr5:132579332 [GRCh38]
Chr5:131915024 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002201299] |
Chr5:132608742 [GRCh38]
Chr5:131944434 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3037-12G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002101571] |
Chr5:132615991 [GRCh38]
Chr5:131951683 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+10C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002154100] |
Chr5:132579512 [GRCh38]
Chr5:131915204 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1452+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002199806] |
Chr5:132589854 [GRCh38]
Chr5:131925546 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.886-11G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002159691]|Nijmegen breakage syndrome-like disorder [RCV002258363] |
Chr5:132587913 [GRCh38]
Chr5:131923605 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002102043] |
Chr5:132587552 [GRCh38]
Chr5:131923244 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3732T>C (p.Ser1244=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002139355] |
Chr5:132640785 [GRCh38]
Chr5:131976477 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.966G>A (p.Leu322=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002102105] |
Chr5:132588004 [GRCh38]
Chr5:131923696 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2262G>T (p.Leu754=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002102125] |
Chr5:132603354 [GRCh38]
Chr5:131939046 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2733G>A (p.Gln911=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002139477] |
Chr5:132608629 [GRCh38]
Chr5:131944321 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1233C>T (p.Ala411=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002181376] |
Chr5:132588868 [GRCh38]
Chr5:131924560 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+17C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002102532] |
Chr5:132640822 [GRCh38]
Chr5:131976514 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2541A>G (p.Glu847=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002202003] |
Chr5:132604822 [GRCh38]
Chr5:131940514 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-14T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002179608] |
Chr5:132591863 [GRCh38]
Chr5:131927555 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2169A>G (p.Glu723=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002156567] |
Chr5:132595772 [GRCh38]
Chr5:131931464 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+25del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002200592] |
Chr5:132605019 [GRCh38]
Chr5:131940711 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.1512A>G (p.Val504=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002120441] |
Chr5:132591283 [GRCh38]
Chr5:131926975 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1044T>G (p.Val348=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002181947] |
Chr5:132588082 [GRCh38]
Chr5:131923774 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+13A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002158821] |
Chr5:132605012 [GRCh38]
Chr5:131940704 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3165-12T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002082747] |
Chr5:132618058 [GRCh38]
Chr5:131953750 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+8T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002082781] |
Chr5:132595818 [GRCh38]
Chr5:131931510 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-3del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002122994] |
Chr5:132608608 [GRCh38]
Chr5:131944300 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2232G>A (p.Glu744=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002218227] |
Chr5:132603324 [GRCh38]
Chr5:131939016 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002220093] |
Chr5:132588106 [GRCh38]
Chr5:131923798 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.886-6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002121136] |
Chr5:132587918 [GRCh38]
Chr5:131923610 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.573A>G (p.Thr191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002164798] |
Chr5:132579883 [GRCh38]
Chr5:131915575 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002159673] |
Chr5:132609105 [GRCh38]
Chr5:131944797 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002137518] |
Chr5:132609274 [GRCh38]
Chr5:131944966 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-15T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002137520] |
Chr5:132638066 [GRCh38]
Chr5:131973758 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.267C>G (p.Val89=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002160084] |
Chr5:132575830 [GRCh38]
Chr5:131911522 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-19A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002142960] |
Chr5:132608596 [GRCh38]
Chr5:131944288 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-16_2398-15del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002083583] |
Chr5:132603902..132603903 [GRCh38]
Chr5:131939594..131939595 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+17C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002143150] |
Chr5:132557470 [GRCh38]
Chr5:131893162 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+17G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002202350] |
Chr5:132618311 [GRCh38]
Chr5:131954003 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-12_757-9del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002204332] |
Chr5:132587547..132587550 [GRCh38]
Chr5:131923239..131923242 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.855T>C (p.Asp285=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002162135] |
Chr5:132587660 [GRCh38]
Chr5:131923352 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-19T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002176119] |
Chr5:132642159 [GRCh38]
Chr5:131977851 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2301C>T (p.Asp767=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002138373] |
Chr5:132603393 [GRCh38]
Chr5:131939085 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002136421] |
Chr5:132595826 [GRCh38]
Chr5:131931518 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.6C>T (p.Ser2=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002143812] |
Chr5:132557330 [GRCh38]
Chr5:131893022 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-11A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002143813] |
Chr5:132603909 [GRCh38]
Chr5:131939601 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+20G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002118644] |
Chr5:132588900 [GRCh38]
Chr5:131924592 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1770C>T (p.Thr590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002182438] |
Chr5:132592011 [GRCh38]
Chr5:131927703 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+19C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002164468] |
Chr5:132616149 [GRCh38]
Chr5:131951841 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+9dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002217904]|not provided [RCV003478932] |
Chr5:132637207..132637208 [GRCh38]
Chr5:131972899..131972900 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.1970-12T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002144158] |
Chr5:132595561 [GRCh38]
Chr5:131931253 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+9G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002164547] |
Chr5:132604055 [GRCh38]
Chr5:131939747 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-20_2923-16del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002164648] |
Chr5:132609262..132609266 [GRCh38]
Chr5:131944954..131944958 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2397+18T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002099596] |
Chr5:132603507 [GRCh38]
Chr5:131939199 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3141A>G (p.Gln1047=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002157570] |
Chr5:132616107 [GRCh38]
Chr5:131951799 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.757-18A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002160772] |
Chr5:132587544 [GRCh38]
Chr5:131923236 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3627C>T (p.Ala1209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002204637] |
Chr5:132640680 [GRCh38]
Chr5:131976372 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2364C>T (p.Cys788=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002081210] |
Chr5:132603456 [GRCh38]
Chr5:131939148 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-16C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002220232] |
Chr5:132638065 [GRCh38]
Chr5:131973757 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2820A>T (p.Ala940=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002139182] |
Chr5:132608716 [GRCh38]
Chr5:131944408 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3129G>A (p.Lys1043=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002163019] |
Chr5:132616095 [GRCh38]
Chr5:131951787 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2601A>G (p.Thr867=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002201704] |
Chr5:132604882 [GRCh38]
Chr5:131940574 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1434C>T (p.Asp478=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002220653] |
Chr5:132589819 [GRCh38]
Chr5:131925511 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+13G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002103574] |
Chr5:132637213 [GRCh38]
Chr5:131972905 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002184617] |
Chr5:132579309 [GRCh38]
Chr5:131915001 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002175734] |
Chr5:132559271 [GRCh38]
Chr5:131894963 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+20G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002200111] |
Chr5:132640825 [GRCh38]
Chr5:131976517 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.51A>C (p.Ile17=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002156335] |
Chr5:132557375 [GRCh38]
Chr5:131893067 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-11C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002184729] |
Chr5:132640661 [GRCh38]
Chr5:131976353 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-18G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002120073] |
Chr5:132579299 [GRCh38]
Chr5:131914991 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002098557] |
Chr5:132594852 [GRCh38]
Chr5:131930544 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+16C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002120152] |
Chr5:132605015 [GRCh38]
Chr5:131940707 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.39G>T (p.Arg13=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002200677] |
Chr5:132557363 [GRCh38]
Chr5:131893055 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002141330] |
Chr5:132609275 [GRCh38]
Chr5:131944967 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.365+7_365+10dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002217528] |
Chr5:132575933..132575934 [GRCh38]
Chr5:131911625..131911626 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-18T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002198826] |
Chr5:132603902 [GRCh38]
Chr5:131939594 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1704A>T (p.Gly568=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002084274] |
Chr5:132591945 [GRCh38]
Chr5:131927637 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-15G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002157131] |
Chr5:132603285 [GRCh38]
Chr5:131938977 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+7A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002101163] |
Chr5:132588887 [GRCh38]
Chr5:131924579 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-10C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002158772] |
Chr5:132638071 [GRCh38]
Chr5:131973763 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1056T>C (p.Arg352=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002101510] |
Chr5:132588691 [GRCh38]
Chr5:131924383 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1969+16T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002155890] |
Chr5:132595060 [GRCh38]
Chr5:131930752 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2397+13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002199512] |
Chr5:132603502 [GRCh38]
Chr5:131939194 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+11A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002161661] |
Chr5:132609220 [GRCh38]
Chr5:131944912 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1970-18T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002099898] |
Chr5:132595555 [GRCh38]
Chr5:131931247 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-14T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002203428] |
Chr5:132591863 [GRCh38]
Chr5:131927555 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2739C>T (p.Ser913=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002220614] |
Chr5:132608635 [GRCh38]
Chr5:131944327 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+14T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002216960] |
Chr5:132595824 [GRCh38]
Chr5:131931516 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1452+15G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002159589] |
Chr5:132589852 [GRCh38]
Chr5:131925544 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+20C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002183394] |
Chr5:132557473 [GRCh38]
Chr5:131893165 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1134A>G (p.Leu378=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002198393] |
Chr5:132588769 [GRCh38]
Chr5:131924461 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2175G>T (p.Arg725=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002083866] |
Chr5:132595778 [GRCh38]
Chr5:131931470 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.540T>C (p.Phe180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002154383] |
Chr5:132579491 [GRCh38]
Chr5:131915183 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-4A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002198199] |
Chr5:132579858 [GRCh38]
Chr5:131915550 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1143T>C (p.Asp381=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002102291]|Nijmegen breakage syndrome-like disorder [RCV002258360] |
Chr5:132588778 [GRCh38]
Chr5:131924470 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-16G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002141563] |
Chr5:132609101 [GRCh38]
Chr5:131944793 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3648C>A (p.Ala1216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002123544] |
Chr5:132640701 [GRCh38]
Chr5:131976393 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3858C>T (p.Phe1286=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002183710] |
Chr5:132642283 [GRCh38]
Chr5:131977975 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-17T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002162371] |
Chr5:132640655 [GRCh38]
Chr5:131976347 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002219527] |
Chr5:132559273 [GRCh38]
Chr5:131894965 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3237A>G (p.Lys1079=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002123636] |
Chr5:132618142 [GRCh38]
Chr5:131953834 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002157045] |
Chr5:132579304 [GRCh38]
Chr5:131914996 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-20T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002122351] |
Chr5:132608595 [GRCh38]
Chr5:131944287 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1977G>A (p.Leu659=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002158831] |
Chr5:132595580 [GRCh38]
Chr5:131931272 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3741T>C (p.His1247=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002184242] |
Chr5:132640794 [GRCh38]
Chr5:131976486 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1635+18G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002217787] |
Chr5:132591424 [GRCh38]
Chr5:131927116 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1788A>G (p.Lys596=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002122292] |
Chr5:132592029 [GRCh38]
Chr5:131927721 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1713C>G (p.Pro571=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002142383] |
Chr5:132591954 [GRCh38]
Chr5:131927646 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2923-6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002083147] |
Chr5:132609277 [GRCh38]
Chr5:131944969 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1635+7T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003110216] |
Chr5:132591413 [GRCh38]
Chr5:131927105 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NC_000005.9:g.(?_131926906)_(131927736_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003116421] |
Chr5:131926906..131927736 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.9:g.(?_131893017)_(131978056_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003116422] |
Chr5:131893017..131978056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+25_2922+28del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003116007] |
Chr5:132609228..132609231 [GRCh38]
Chr5:131944920..131944923 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2397+8dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003115562] |
Chr5:132603494..132603495 [GRCh38]
Chr5:131939186..131939187 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2942A>G (p.Asn981Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003112179] |
Chr5:132609302 [GRCh38]
Chr5:131944994 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.676C>G (p.Gln226Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003121300] |
Chr5:132579986 [GRCh38]
Chr5:131915678 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164366]|Nijmegen breakage syndrome-like disorder [RCV002258719] |
Chr5:132595711 [GRCh38]
Chr5:131931403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.351C>A (p.Val117=) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV002259281] |
Chr5:132575914 [GRCh38]
Chr5:131911606 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746609]|Nijmegen breakage syndrome-like disorder [RCV002259282] |
Chr5:132638228 [GRCh38]
Chr5:131973920 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3400A>C (p.Lys1134Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452075] |
Chr5:132637125 [GRCh38]
Chr5:131972817 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3719A>G (p.Glu1240Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349060] |
Chr5:132640772 [GRCh38]
Chr5:131976464 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.742C>G (p.Leu248Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385011] |
Chr5:132580052 [GRCh38]
Chr5:131915744 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3390-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451909] |
Chr5:132637114 [GRCh38]
Chr5:131972806 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2850G>A (p.Lys950=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435364] |
Chr5:132609137 [GRCh38]
Chr5:131944829 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3734T>G (p.Leu1245Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349197] |
Chr5:132640787 [GRCh38]
Chr5:131976479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3617A>G (p.Lys1206Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452258] |
Chr5:132638222 [GRCh38]
Chr5:131973914 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+1_2524+9del |
deletion |
Hepatocellular carcinoma [RCV002280927] |
Chr5:132604043..132604051 [GRCh38]
Chr5:131939735..131939743 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3002T>C (p.Met1001Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435685] |
Chr5:132609362 [GRCh38]
Chr5:131945054 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3663C>T (p.Phe1221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452579] |
Chr5:132640716 [GRCh38]
Chr5:131976408 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+7T>C |
single nucleotide variant |
not specified [RCV003236553] |
Chr5:132608732 [GRCh38]
Chr5:131944424 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3710_3714del (p.Leu1237fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002349004] |
Chr5:132640762..132640766 [GRCh38]
Chr5:131976454..131976458 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1000A>G (p.Lys334Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349127] |
Chr5:132588038 [GRCh38]
Chr5:131923730 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3729A>T (p.Glu1243Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349150] |
Chr5:132640782 [GRCh38]
Chr5:131976474 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.621A>T (p.Gln207His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366491] |
Chr5:132579931 [GRCh38]
Chr5:131915623 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3619-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452274] |
Chr5:132640670 [GRCh38]
Chr5:131976362 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2851G>A (p.Val951Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435377] |
Chr5:132609138 [GRCh38]
Chr5:131944830 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451879] |
Chr5:132618298 [GRCh38]
Chr5:131953990 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1244T>C (p.Met415Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002297104]|Nijmegen breakage syndrome-like disorder [RCV005032233] |
Chr5:132588879 [GRCh38]
Chr5:131924571 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.131C>T (p.Thr44Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385651] |
Chr5:132559285 [GRCh38]
Chr5:131894977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2870A>G (p.Tyr957Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437674] |
Chr5:132609157 [GRCh38]
Chr5:131944849 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1284_1285del (p.Gln428fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002387412] |
Chr5:132589668..132589669 [GRCh38]
Chr5:131925360..131925361 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3671del (p.Asn1224fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002452658] |
Chr5:132640723 [GRCh38]
Chr5:131976415 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2668C>G (p.Gln890Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453144] |
Chr5:132604949 [GRCh38]
Chr5:131940641 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1337A>C (p.Lys446Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387608] |
Chr5:132589722 [GRCh38]
Chr5:131925414 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2838_2841dup (p.Lys948delinsTyrTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002435193] |
Chr5:132609124..132609125 [GRCh38]
Chr5:131944816..131944817 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002349105] |
Chr5:132640775..132640798 [GRCh38]
Chr5:131976467..131976490 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3726T>C (p.Ile1242=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349136] |
Chr5:132640779 [GRCh38]
Chr5:131976471 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1325T>A (p.Ile442Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385781] |
Chr5:132589710 [GRCh38]
Chr5:131925402 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2902G>A (p.Gly968Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438096] |
Chr5:132609189 [GRCh38]
Chr5:131944881 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3035A>T (p.Lys1012Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438146] |
Chr5:132609395 [GRCh38]
Chr5:131945087 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2046del (p.Val683fs) |
deletion |
Hepatocellular carcinoma [RCV002280926] |
Chr5:132595646 [GRCh38]
Chr5:131931338 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3745C>A (p.Leu1249Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349258] |
Chr5:132640798 [GRCh38]
Chr5:131976490 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2561A>G (p.Gln854Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452734] |
Chr5:132604842 [GRCh38]
Chr5:131940534 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.667A>T (p.Ile223Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366998] |
Chr5:132579977 [GRCh38]
Chr5:131915669 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.62A>G (p.Asp21Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368772] |
Chr5:132557386 [GRCh38]
Chr5:131893078 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2993A>C (p.Asn998Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435516] |
Chr5:132609353 [GRCh38]
Chr5:131945045 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3364G>T (p.Asp1122Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454786] |
Chr5:132618269 [GRCh38]
Chr5:131953961 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3365del (p.Asp1122fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002454793] |
Chr5:132618270 [GRCh38]
Chr5:131953962 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3671A>T (p.Asn1224Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452657] |
Chr5:132640724 [GRCh38]
Chr5:131976416 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.814A>G (p.Ile272Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421386] |
Chr5:132587619 [GRCh38]
Chr5:131923311 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1958C>T (p.Ser653Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421663] |
Chr5:132595033 [GRCh38]
Chr5:131930725 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2927A>C (p.Lys976Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002297212] |
Chr5:132609287 [GRCh38]
Chr5:131944979 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2023G>A (p.Asp675Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419636] |
Chr5:132595626 [GRCh38]
Chr5:131931318 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2879A>G (p.Asp960Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437759] |
Chr5:132609166 [GRCh38]
Chr5:131944858 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2699C>A (p.Ser900Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002453207] |
Chr5:132604980 [GRCh38]
Chr5:131940672 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3782A>G (p.Asn1261Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351149] |
Chr5:132642207 [GRCh38]
Chr5:131977899 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3784_3786dup (p.Phe1262_Gln1263insPhe) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002351157] |
Chr5:132642207..132642208 [GRCh38]
Chr5:131977899..131977900 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2868C>A (p.Gly956=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437635] |
Chr5:132609155 [GRCh38]
Chr5:131944847 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1898G>A (p.Cys633Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002294949] |
Chr5:132594973 [GRCh38]
Chr5:131930665 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.66G>A (p.Lys22=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367143] |
Chr5:132557390 [GRCh38]
Chr5:131893082 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1146C>T (p.Gly382=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454870] |
Chr5:132588781 [GRCh38]
Chr5:131924473 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2632T>C (p.Ser878Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452938] |
Chr5:132604913 [GRCh38]
Chr5:131940605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2637T>C (p.Thr879=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452955] |
Chr5:132604918 [GRCh38]
Chr5:131940610 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.491G>A (p.Trp164Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351260] |
Chr5:132579442 [GRCh38]
Chr5:131915134 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.272G>T (p.Gly91Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437474] |
Chr5:132575835 [GRCh38]
Chr5:131911527 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2824G>A (p.Asp942Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435023] |
Chr5:132608720 [GRCh38]
Chr5:131944412 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1784C>T (p.Ala595Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002297138] |
Chr5:132592025 [GRCh38]
Chr5:131927717 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.552-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351777] |
Chr5:132579861 [GRCh38]
Chr5:131915553 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2032del (p.Gln678fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002419806] |
Chr5:132595634 [GRCh38]
Chr5:131931326 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2734G>A (p.Val912Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002437507] |
Chr5:132608630 [GRCh38]
Chr5:131944322 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3558G>A (p.Val1186=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454914] |
Chr5:132638163 [GRCh38]
Chr5:131973855 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3582C>T (p.Ala1194=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455097] |
Chr5:132638187 [GRCh38]
Chr5:131973879 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2038T>C (p.Cys680Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419882] |
Chr5:132595641 [GRCh38]
Chr5:131931333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1070C>G (p.Ala357Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421563] |
Chr5:132588705 [GRCh38]
Chr5:131924397 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3428T>A (p.Ile1143Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302128] |
Chr5:132637153 [GRCh38]
Chr5:131972845 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.61G>C (p.Asp21His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302133] |
Chr5:132557385 [GRCh38]
Chr5:131893077 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1866G>A (p.Leu622=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415002]|not provided [RCV003476994] |
Chr5:132594941 [GRCh38]
Chr5:131930633 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.454AAT[1] (p.Asn153del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002342134] |
Chr5:132579405..132579407 [GRCh38]
Chr5:131915097..131915099 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+203T>C |
single nucleotide variant |
not provided [RCV002469910] |
Chr5:132559570 [GRCh38]
Chr5:131895262 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1884G>A (p.Lys628=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415367] |
Chr5:132594959 [GRCh38]
Chr5:131930651 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2010T>C (p.Ile670=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417350] |
Chr5:132595613 [GRCh38]
Chr5:131931305 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-98C>T |
single nucleotide variant |
not provided [RCV002469841] |
Chr5:132642080 [GRCh38]
Chr5:131977772 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2160A>G (p.Lys720=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417896] |
Chr5:132595763 [GRCh38]
Chr5:131931455 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1266G>A (p.Glu422=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449682] |
Chr5:132589651 [GRCh38]
Chr5:131925343 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2055G>A (p.Gln685=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421876] |
Chr5:132595658 [GRCh38]
Chr5:131931350 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.312G>A (p.Gln104=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320578] |
Chr5:132575875 [GRCh38]
Chr5:131911567 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1247A>T (p.Asn416Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396179] |
Chr5:132589632 [GRCh38]
Chr5:131925324 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2076T>C (p.Ala692=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422218] |
Chr5:132595679 [GRCh38]
Chr5:131931371 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2613del (p.Lys871fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002426348] |
Chr5:132604891 [GRCh38]
Chr5:131940583 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3922G>A (p.Gly1308Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357539] |
Chr5:132642347 [GRCh38]
Chr5:131978039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.652G>A (p.Glu218Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364282] |
Chr5:132579962 [GRCh38]
Chr5:131915654 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.980G>T (p.Arg327Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002303953] |
Chr5:132588018 [GRCh38]
Chr5:131923710 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.719T>C (p.Ile240Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370826]|not provided [RCV003312052] |
Chr5:132580029 [GRCh38]
Chr5:131915721 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.721G>A (p.Val241Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370958] |
Chr5:132580031 [GRCh38]
Chr5:131915723 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2338C>G (p.Pro780Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002299590] |
Chr5:132603430 [GRCh38]
Chr5:131939122 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3631C>T (p.Leu1211Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460336] |
Chr5:132640684 [GRCh38]
Chr5:131976376 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2362T>A (p.Cys788Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002295238] |
Chr5:132603454 [GRCh38]
Chr5:131939146 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.599del (p.Gly200fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002357927] |
Chr5:132579908 [GRCh38]
Chr5:131915600 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.23G>A (p.Ser8Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450248] |
Chr5:132557347 [GRCh38]
Chr5:131893039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1161A>C (p.Pro387=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375571] |
Chr5:132588796 [GRCh38]
Chr5:131924488 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.601C>G (p.Gln201Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358097] |
Chr5:132579911 [GRCh38]
Chr5:131915603 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1779A>C (p.Arg593Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404025] |
Chr5:132592020 [GRCh38]
Chr5:131927712 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3484T>C (p.Tyr1162His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457390] |
Chr5:132638089 [GRCh38]
Chr5:131973781 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2088A>C (p.Glu696Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423970] |
Chr5:132595691 [GRCh38]
Chr5:131931383 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.890T>C (p.Phe297Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376090] |
Chr5:132587928 [GRCh38]
Chr5:131923620 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1440G>A (p.Glu480=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394359] |
Chr5:132589825 [GRCh38]
Chr5:131925517 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2819C>G (p.Ala940Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002304778] |
Chr5:132608715 [GRCh38]
Chr5:131944407 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2831T>A (p.Leu944Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002304886] |
Chr5:132609118 [GRCh38]
Chr5:131944810 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3798A>G (p.Val1266=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355144] |
Chr5:132642223 [GRCh38]
Chr5:131977915 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2023G>C (p.Asp675His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002295592] |
Chr5:132595626 [GRCh38]
Chr5:131931318 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3090A>T (p.Glu1030Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325798] |
Chr5:132616056 [GRCh38]
Chr5:131951748 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1528G>A (p.Glu510Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400813] |
Chr5:132591299 [GRCh38]
Chr5:131926991 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1884G>C (p.Lys628Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415371] |
Chr5:132594959 [GRCh38]
Chr5:131930651 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2498A>G (p.Gln833Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002304949] |
Chr5:132604020 [GRCh38]
Chr5:131939712 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.386T>G (p.Leu129Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355607] |
Chr5:132579337 [GRCh38]
Chr5:131915029 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.440C>T (p.Ser147Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333804] |
Chr5:132579391 [GRCh38]
Chr5:131915083 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2978A>G (p.His993Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442159] |
Chr5:132609338 [GRCh38]
Chr5:131945030 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.97A>G (p.Ile33Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376794] |
Chr5:132557421 [GRCh38]
Chr5:131893113 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2465A>G (p.Asp822Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430748] |
Chr5:132603987 [GRCh38]
Chr5:131939679 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2404C>T (p.Leu802Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450275] |
Chr5:132603926 [GRCh38]
Chr5:131939618 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1410T>G (p.Ser470=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389507] |
Chr5:132589795 [GRCh38]
Chr5:131925487 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2213G>T (p.Ser738Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425901] |
Chr5:132603305 [GRCh38]
Chr5:131938997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.3:c.2291_2292insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002446234] |
|
likely pathogenic |
| NM_005732.4(RAD50):c.422T>G (p.Ile141Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328112] |
Chr5:132579373 [GRCh38]
Chr5:131915065 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1489G>A (p.Val497Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389651] |
Chr5:132591260 [GRCh38]
Chr5:131926952 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3528T>C (p.Ser1176=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459377] |
Chr5:132638133 [GRCh38]
Chr5:131973825 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3531T>G (p.Asp1177Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459420] |
Chr5:132638136 [GRCh38]
Chr5:131973828 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2229G>A (p.Lys743=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428189] |
Chr5:132603321 [GRCh38]
Chr5:131939013 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.382A>G (p.Ser128Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364026] |
Chr5:132579333 [GRCh38]
Chr5:131915025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1719A>G (p.Lys573=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399006] |
Chr5:132591960 [GRCh38]
Chr5:131927652 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3499T>G (p.Ser1167Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459099] |
Chr5:132638104 [GRCh38]
Chr5:131973796 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1569G>A (p.Gln523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405602] |
Chr5:132591340 [GRCh38]
Chr5:131927032 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1299A>C (p.Arg433Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380717] |
Chr5:132589684 [GRCh38]
Chr5:131925376 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2455A>G (p.Ile819Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450537] |
Chr5:132603977 [GRCh38]
Chr5:131939669 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457309] |
Chr5:132637201 [GRCh38]
Chr5:131972893 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3476A>G (p.Asp1159Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457320] |
Chr5:132638081 [GRCh38]
Chr5:131973773 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.935A>G (p.Gln312Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371702] |
Chr5:132587973 [GRCh38]
Chr5:131923665 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2585A>C (p.His862Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426085] |
Chr5:132604866 [GRCh38]
Chr5:131940558 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.692A>G (p.Glu231Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378121] |
Chr5:132580002 [GRCh38]
Chr5:131915694 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.995T>C (p.Leu332Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382952] |
Chr5:132588033 [GRCh38]
Chr5:131923725 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1754A>C (p.Lys585Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407541] |
Chr5:132591995 [GRCh38]
Chr5:131927687 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1033G>C (p.Glu345Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389405] |
Chr5:132588071 [GRCh38]
Chr5:131923763 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2985A>G (p.Glu995=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442243] |
Chr5:132609345 [GRCh38]
Chr5:131945037 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3510T>A (p.Asp1170Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459214] |
Chr5:132638115 [GRCh38]
Chr5:131973807 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3510T>C (p.Asp1170=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459218] |
Chr5:132638115 [GRCh38]
Chr5:131973807 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3796_3809dup (p.Asp1270delinsGluTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002363924] |
Chr5:132642220..132642221 [GRCh38]
Chr5:131977912..131977913 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1710T>C (p.Phe570=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398902] |
Chr5:132591951 [GRCh38]
Chr5:131927643 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.953A>G (p.Lys318Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374262] |
Chr5:132587991 [GRCh38]
Chr5:131923683 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.954A>G (p.Lys318=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374276] |
Chr5:132587992 [GRCh38]
Chr5:131923684 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2325G>C (p.Leu775Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448153] |
Chr5:132603417 [GRCh38]
Chr5:131939109 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1605T>G (p.Arg535=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400856] |
Chr5:132591376 [GRCh38]
Chr5:131927068 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2928del (p.Glu977fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002440016] |
Chr5:132609284 [GRCh38]
Chr5:131944976 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1259A>G (p.Glu420Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427965] |
Chr5:132589644 [GRCh38]
Chr5:131925336 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1306A>C (p.Lys436Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380956] |
Chr5:132589691 [GRCh38]
Chr5:131925383 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2331A>G (p.Thr777=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457634] |
Chr5:132603423 [GRCh38]
Chr5:131939115 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.839A>C (p.Lys280Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434867] |
Chr5:132587644 [GRCh38]
Chr5:131923336 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3524C>T (p.Ala1175Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459348] |
Chr5:132638129 [GRCh38]
Chr5:131973821 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3528T>G (p.Ser1176=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459378] |
Chr5:132638133 [GRCh38]
Chr5:131973825 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.942A>G (p.Thr314=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373992] |
Chr5:132587980 [GRCh38]
Chr5:131923672 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.75C>G (p.Ile25Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394224] |
Chr5:132557399 [GRCh38]
Chr5:131893091 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.685A>G (p.Ser229Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362139] |
Chr5:132579995 [GRCh38]
Chr5:131915687 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.210del (p.Lys71fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002424378] |
Chr5:132559362 [GRCh38]
Chr5:131895054 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2427T>C (p.Ile809=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459850] |
Chr5:132603949 [GRCh38]
Chr5:131939641 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.472C>G (p.His158Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335455] |
Chr5:132579423 [GRCh38]
Chr5:131915115 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3110A>G (p.Glu1037Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326085] |
Chr5:132616076 [GRCh38]
Chr5:131951768 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1688T>G (p.Leu563Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406123] |
Chr5:132591929 [GRCh38]
Chr5:131927621 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.128C>A (p.Thr43Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383274] |
Chr5:132557452 [GRCh38]
Chr5:131893144 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2578A>G (p.Ile860Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426047] |
Chr5:132604859 [GRCh38]
Chr5:131940551 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3121C>A (p.His1041Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320501] |
Chr5:132616087 [GRCh38]
Chr5:131951779 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.690G>C (p.Lys230Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002378084] |
Chr5:132580000 [GRCh38]
Chr5:131915692 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1377T>C (p.Asn459=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002381080] |
Chr5:132589762 [GRCh38]
Chr5:131925454 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3580G>T (p.Ala1194Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339805] |
Chr5:132638185 [GRCh38]
Chr5:131973877 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3596G>C (p.Gly1199Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339846] |
Chr5:132638201 [GRCh38]
Chr5:131973893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.279T>C (p.Leu93=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441526] |
Chr5:132575842 [GRCh38]
Chr5:131911534 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.38G>A (p.Arg13Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357458] |
Chr5:132557362 [GRCh38]
Chr5:131893054 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.43T>G (p.Phe15Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333745] |
Chr5:132557367 [GRCh38]
Chr5:131893059 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1608C>A (p.Thr536=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394787] |
Chr5:132591379 [GRCh38]
Chr5:131927071 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2351G>A (p.Ser784Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448418] |
Chr5:132603443 [GRCh38]
Chr5:131939135 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3165T>C (p.Ser1055=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322563] |
Chr5:132618070 [GRCh38]
Chr5:131953762 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2238A>G (p.Glu746=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428320] |
Chr5:132603330 [GRCh38]
Chr5:131939022 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2801A>G (p.Asn934Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441600] |
Chr5:132608697 [GRCh38]
Chr5:131944389 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1158_1159del (p.Pro387fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002355615] |
Chr5:132588793..132588794 [GRCh38]
Chr5:131924485..131924486 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3376A>C (p.Lys1126Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451778] |
Chr5:132618281 [GRCh38]
Chr5:131953973 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2320C>A (p.Leu774Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448123] |
Chr5:132603412 [GRCh38]
Chr5:131939104 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.172C>A (p.Pro58Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399163]|Nijmegen breakage syndrome-like disorder [RCV003465734] |
Chr5:132559326 [GRCh38]
Chr5:131895018 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3227G>A (p.Gly1076Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445521] |
Chr5:132618132 [GRCh38]
Chr5:131953824 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.254A>G (p.Gln85Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433290] |
Chr5:132575817 [GRCh38]
Chr5:131911509 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+18_1635+19insGAGAC |
insertion |
Hereditary cancer-predisposing syndrome [RCV002401351] |
Chr5:132591424..132591425 [GRCh38]
Chr5:131927116..131927117 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2068A>G (p.Thr690Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422065] |
Chr5:132595671 [GRCh38]
Chr5:131931363 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.766A>G (p.Lys256Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396470] |
Chr5:132587571 [GRCh38]
Chr5:131923263 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1785C>T (p.Ala595=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407713] |
Chr5:132592026 [GRCh38]
Chr5:131927718 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.361A>T (p.Thr121Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460304] |
Chr5:132575924 [GRCh38]
Chr5:131911616 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1653A>T (p.Gln551His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403684] |
Chr5:132591894 [GRCh38]
Chr5:131927586 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438150] |
Chr5:132609401 [GRCh38]
Chr5:131945093 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1029A>C (p.Lys343Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387670] |
Chr5:132588067 [GRCh38]
Chr5:131923759 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2060T>G (p.Val687Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421974] |
Chr5:132595663 [GRCh38]
Chr5:131931355 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3799A>C (p.Ile1267Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355149] |
Chr5:132642224 [GRCh38]
Chr5:131977916 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2105del (p.Gln702fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002424294] |
Chr5:132595708 [GRCh38]
Chr5:131931400 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3148G>T (p.Val1050Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320781] |
Chr5:132616114 [GRCh38]
Chr5:131951806 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2355C>T (p.Ala785=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448464] |
Chr5:132603447 [GRCh38]
Chr5:131939139 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3452G>T (p.Trp1151Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002300084] |
Chr5:132637177 [GRCh38]
Chr5:131972869 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1598C>T (p.Thr533Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398556] |
Chr5:132591369 [GRCh38]
Chr5:131927061 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1649A>G (p.Glu550Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002296628] |
Chr5:132591890 [GRCh38]
Chr5:131927582 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1564G>A (p.Asp522Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405494] |
Chr5:132591335 [GRCh38]
Chr5:131927027 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2863C>G (p.His955Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002301324] |
Chr5:132609150 [GRCh38]
Chr5:131944842 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2376T>C (p.Val792=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457829] |
Chr5:132603468 [GRCh38]
Chr5:131939160 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1389A>G (p.Glu463=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396603] |
Chr5:132589774 [GRCh38]
Chr5:131925466 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3235A>G (p.Lys1079Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324758] |
Chr5:132618140 [GRCh38]
Chr5:131953832 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3304G>C (p.Glu1102Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326244] |
Chr5:132618209 [GRCh38]
Chr5:131953901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.919T>G (p.Leu307Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450049] |
Chr5:132587957 [GRCh38]
Chr5:131923649 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1696C>T (p.Leu566=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406229] |
Chr5:132591937 [GRCh38]
Chr5:131927629 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3170A>G (p.His1057Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002294775] |
Chr5:132618075 [GRCh38]
Chr5:131953767 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2475C>A (p.Val825=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443909] |
Chr5:132603997 [GRCh38]
Chr5:131939689 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3039A>G (p.Ile1013Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443958] |
Chr5:132616005 [GRCh38]
Chr5:131951697 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3268A>G (p.Lys1090Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445681] |
Chr5:132618173 [GRCh38]
Chr5:131953865 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2412T>C (p.Asp804=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450350] |
Chr5:132603934 [GRCh38]
Chr5:131939626 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2417A>G (p.Glu806Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002450367] |
Chr5:132603939 [GRCh38]
Chr5:131939631 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3930T>A (p.Asn1310Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002297986] |
Chr5:132642355 [GRCh38]
Chr5:131978047 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2221G>A (p.Asp741Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002301922] |
Chr5:132603313 [GRCh38]
Chr5:131939005 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2546A>C (p.Asn849Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455808] |
Chr5:132604827 [GRCh38]
Chr5:131940519 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3840T>C (p.Ser1280=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355446] |
Chr5:132642265 [GRCh38]
Chr5:131977957 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2657A>G (p.Gln886Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428711] |
Chr5:132604938 [GRCh38]
Chr5:131940630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3225A>G (p.Leu1075=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445509] |
Chr5:132618130 [GRCh38]
Chr5:131953822 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1050G>A (p.Gln350=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403559] |
Chr5:132588088 [GRCh38]
Chr5:131923780 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1128A>G (p.Thr376=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002319854] |
Chr5:132588763 [GRCh38]
Chr5:131924455 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.847G>A (p.Glu283Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447630] |
Chr5:132587652 [GRCh38]
Chr5:131923344 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1152G>C (p.Glu384Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363784] |
Chr5:132588787 [GRCh38]
Chr5:131924479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.280A>G (p.Ile94Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441676] |
Chr5:132575843 [GRCh38]
Chr5:131911535 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1461G>T (p.Glu487Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396747] |
Chr5:132591232 [GRCh38]
Chr5:131926924 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3327T>A (p.Ile1109=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326441] |
Chr5:132618232 [GRCh38]
Chr5:131953924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.519G>A (p.Lys173=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338582] |
Chr5:132579470 [GRCh38]
Chr5:131915162 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.219T>C (p.Ala73=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425676] |
Chr5:132575782 [GRCh38]
Chr5:131911474 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1705T>A (p.Tyr569Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398793] |
Chr5:132591946 [GRCh38]
Chr5:131927638 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.12C>T (p.Ile4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380794] |
Chr5:132557336 [GRCh38]
Chr5:131893028 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.453A>T (p.Leu151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330311] |
Chr5:132579404 [GRCh38]
Chr5:131915096 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2815A>G (p.Ile939Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441746] |
Chr5:132608711 [GRCh38]
Chr5:131944403 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+18_1635+19insGAGACTTATTAC |
insertion |
Hereditary cancer-predisposing syndrome [RCV002394899] |
Chr5:132591424..132591425 [GRCh38]
Chr5:131927116..131927117 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.722T>G (p.Val241Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371011] |
Chr5:132580032 [GRCh38]
Chr5:131915724 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2283A>C (p.Ile761=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446112] |
Chr5:132603375 [GRCh38]
Chr5:131939067 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1668A>G (p.Lys556=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403927] |
Chr5:132591909 [GRCh38]
Chr5:131927601 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3796G>C (p.Val1266Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363927] |
Chr5:132642221 [GRCh38]
Chr5:131977913 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.748C>T (p.Pro250Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391551] |
Chr5:132580058 [GRCh38]
Chr5:131915750 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2958A>C (p.Gln986His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441938] |
Chr5:132609318 [GRCh38]
Chr5:131945010 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1617G>C (p.Glu539Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400997] |
Chr5:132591388 [GRCh38]
Chr5:131927080 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1790T>G (p.Leu597Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407762] |
Chr5:132592031 [GRCh38]
Chr5:131927723 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1812T>A (p.Ser604=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410208] |
Chr5:132594887 [GRCh38]
Chr5:131930579 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1157G>A (p.Gly386Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002302125] |
Chr5:132588792 [GRCh38]
Chr5:131924484 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1683T>C (p.Asp561=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414553] |
Chr5:132591924 [GRCh38]
Chr5:131927616 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1407dup (p.Ser470fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002389402] |
Chr5:132589791..132589792 [GRCh38]
Chr5:131925483..131925484 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1926A>C (p.Leu642Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410798] |
Chr5:132595001 [GRCh38]
Chr5:131930693 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.91C>T (p.Leu31Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371234] |
Chr5:132557415 [GRCh38]
Chr5:131893107 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.326_327del (p.Thr109fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002324962] |
Chr5:132575888..132575889 [GRCh38]
Chr5:131911580..131911581 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2912A>G (p.Asp971Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439844] |
Chr5:132609199 [GRCh38]
Chr5:131944891 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2914T>G (p.Tyr972Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439864] |
Chr5:132609201 [GRCh38]
Chr5:131944893 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.617A>G (p.Tyr206Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353746] |
Chr5:132579927 [GRCh38]
Chr5:131915619 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1383G>C (p.Lys461Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002381220] |
Chr5:132589768 [GRCh38]
Chr5:131925460 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3446A>G (p.Asp1149Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457162] |
Chr5:132637171 [GRCh38]
Chr5:131972863 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1771A>T (p.Arg591Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002302291] |
Chr5:132592012 [GRCh38]
Chr5:131927704 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3430A>G (p.Asn1144Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457029] |
Chr5:132637155 [GRCh38]
Chr5:131972847 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2934T>G (p.Thr978=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440106] |
Chr5:132609294 [GRCh38]
Chr5:131944986 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2488C>G (p.Gln830Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430881] |
Chr5:132604010 [GRCh38]
Chr5:131939702 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.783T>C (p.Asn261=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412172] |
Chr5:132587588 [GRCh38]
Chr5:131923280 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1870A>C (p.Ser624Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415095] |
Chr5:132594945 [GRCh38]
Chr5:131930637 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1992A>T (p.Ala664=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423860] |
Chr5:132595595 [GRCh38]
Chr5:131931287 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1481A>G (p.Asn494Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397145] |
Chr5:132591252 [GRCh38]
Chr5:131926944 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1780C>T (p.Leu594Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404085] |
Chr5:132592021 [GRCh38]
Chr5:131927713 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3417A>G (p.Lys1139=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333000] |
Chr5:132637142 [GRCh38]
Chr5:131972834 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2944A>C (p.Lys982Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440199] |
Chr5:132609304 [GRCh38]
Chr5:131944996 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.602A>G (p.Gln201Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002299808] |
Chr5:132579912 [GRCh38]
Chr5:131915604 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1777A>T (p.Arg593Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404005]|Nijmegen breakage syndrome-like disorder [RCV004572438] |
Chr5:132592018 [GRCh38]
Chr5:131927710 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1633A>G (p.Lys545Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401325] |
Chr5:132591404 [GRCh38]
Chr5:131927096 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1826A>G (p.Asn609Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410434]|not specified [RCV004765502] |
Chr5:132594901 [GRCh38]
Chr5:131930593 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1869C>G (p.Ser623=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415029] |
Chr5:132594944 [GRCh38]
Chr5:131930636 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1443C>T (p.Leu481=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394403] |
Chr5:132589828 [GRCh38]
Chr5:131925520 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1447A>G (p.Lys483Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394466] |
Chr5:132589832 [GRCh38]
Chr5:131925524 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1741C>A (p.His581Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401409] |
Chr5:132591982 [GRCh38]
Chr5:131927674 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.859A>G (p.Ser287Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002447946] |
Chr5:132587664 [GRCh38]
Chr5:131923356 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.833del (p.Arg278fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002434664] |
Chr5:132587638 [GRCh38]
Chr5:131923330 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.347G>A (p.Gly116Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457365] |
Chr5:132575910 [GRCh38]
Chr5:131911602 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.936G>A (p.Gln312=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371728] |
Chr5:132587974 [GRCh38]
Chr5:131923666 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3164+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322544] |
Chr5:132616132 [GRCh38]
Chr5:131951824 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3170A>C (p.His1057Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322629] |
Chr5:132618075 [GRCh38]
Chr5:131953767 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1483A>G (p.Ser495Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397191] |
Chr5:132591254 [GRCh38]
Chr5:131926946 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2784del (p.Glu928fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002441345] |
Chr5:132608679 [GRCh38]
Chr5:131944371 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3826C>T (p.Leu1276Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355364] |
Chr5:132642251 [GRCh38]
Chr5:131977943 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2636C>T (p.Thr879Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428595] |
Chr5:132604917 [GRCh38]
Chr5:131940609 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1785C>G (p.Ala595=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407709] |
Chr5:132592026 [GRCh38]
Chr5:131927718 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2323T>C (p.Leu775=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457590] |
Chr5:132603415 [GRCh38]
Chr5:131939107 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3186G>T (p.Glu1062Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322797] |
Chr5:132618091 [GRCh38]
Chr5:131953783 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2721T>A (p.Asp907Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431300] |
Chr5:132608617 [GRCh38]
Chr5:131944309 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2320C>T (p.Leu774Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448125] |
Chr5:132603412 [GRCh38]
Chr5:131939104 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2328T>A (p.Gly776=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448174] |
Chr5:132603420 [GRCh38]
Chr5:131939112 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3684T>G (p.Ile1228Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002457433] |
Chr5:132640737 [GRCh38]
Chr5:131976429 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1908G>C (p.Gln636His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408396] |
Chr5:132594983 [GRCh38]
Chr5:131930675 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.787T>C (p.Ser263Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412318] |
Chr5:132587592 [GRCh38]
Chr5:131923284 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.788_789del (p.Leu262_Ser263insTer) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002412320] |
Chr5:132587588..132587589 [GRCh38]
Chr5:131923280..131923281 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2790CAA[1] (p.Asn931del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002441444] |
Chr5:132608686..132608688 [GRCh38]
Chr5:131944378..131944380 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1159C>T (p.Pro387Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373127] |
Chr5:132588794 [GRCh38]
Chr5:131924486 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.967G>A (p.Val323Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376559] |
Chr5:132588005 [GRCh38]
Chr5:131923697 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3218T>G (p.Leu1073Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445449] |
Chr5:132618123 [GRCh38]
Chr5:131953815 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.696C>T (p.Ala232=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002362514] |
Chr5:132580006 [GRCh38]
Chr5:131915698 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3813A>T (p.Glu1271Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355263] |
Chr5:132642238 [GRCh38]
Chr5:131977930 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.901G>A (p.Asp301Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376428] |
Chr5:132587939 [GRCh38]
Chr5:131923631 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2318C>G (p.Thr773Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448078] |
Chr5:132603410 [GRCh38]
Chr5:131939102 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2558T>C (p.Ile853Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433352] |
Chr5:132604839 [GRCh38]
Chr5:131940531 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.432T>C (p.Leu144=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332119] |
Chr5:132579383 [GRCh38]
Chr5:131915075 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1198G>A (p.Val400Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344428] |
Chr5:132588833 [GRCh38]
Chr5:131924525 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1206G>A (p.Glu402=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002347309] |
Chr5:132588841 [GRCh38]
Chr5:131924533 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1869C>T (p.Ser623=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415033] |
Chr5:132594944 [GRCh38]
Chr5:131930636 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3209A>G (p.Asn1070Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323027] |
Chr5:132618114 [GRCh38]
Chr5:131953806 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.429T>C (p.Ser143=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330288] |
Chr5:132579380 [GRCh38]
Chr5:131915072 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2964T>C (p.Ser988=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442020] |
Chr5:132609324 [GRCh38]
Chr5:131945016 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3342A>T (p.Thr1114=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326603] |
Chr5:132618247 [GRCh38]
Chr5:131953939 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1760T>A (p.Ile587Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401665] |
Chr5:132592001 [GRCh38]
Chr5:131927693 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3324G>T (p.Met1108Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326413] |
Chr5:132618229 [GRCh38]
Chr5:131953921 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter) |
indel |
Hereditary cancer-predisposing syndrome [RCV002347192] |
Chr5:132557336..132557337 [GRCh38]
Chr5:131893028..131893029 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.597A>G (p.Gln199=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356114] |
Chr5:132579907 [GRCh38]
Chr5:131915599 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2156T>A (p.Leu719Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432535] |
Chr5:132595759 [GRCh38]
Chr5:131931451 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1188T>G (p.Phe396Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340755] |
Chr5:132588823 [GRCh38]
Chr5:131924515 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.522A>G (p.Gln174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002340831] |
Chr5:132579473 [GRCh38]
Chr5:131915165 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3281A>G (p.Glu1094Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445757] |
Chr5:132618186 [GRCh38]
Chr5:131953878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1563T>C (p.Leu521=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405478] |
Chr5:132591334 [GRCh38]
Chr5:131927026 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1539C>G (p.Asp513Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002296594] |
Chr5:132591310 [GRCh38]
Chr5:131927002 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2171A>C (p.Lys724Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432738] |
Chr5:132595774 [GRCh38]
Chr5:131931466 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.157T>G (p.Cys53Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405787] |
Chr5:132559311 [GRCh38]
Chr5:131895003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1947T>C (p.Ile649=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413281] |
Chr5:132595022 [GRCh38]
Chr5:131930714 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3279A>G (p.Arg1093=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445732] |
Chr5:132618184 [GRCh38]
Chr5:131953876 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.408T>C (p.Ile136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323226] |
Chr5:132579359 [GRCh38]
Chr5:131915051 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3283C>G (p.Pro1095Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445782] |
Chr5:132618188 [GRCh38]
Chr5:131953880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1277A>T (p.Gln426Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002294945] |
Chr5:132589662 [GRCh38]
Chr5:131925354 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.653A>G (p.Glu218Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002295951] |
Chr5:132579963 [GRCh38]
Chr5:131915655 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3827T>G (p.Leu1276Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364022] |
Chr5:132642252 [GRCh38]
Chr5:131977944 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2555T>A (p.Leu852His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002299288] |
Chr5:132604836 [GRCh38]
Chr5:131940528 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3770C>T (p.Ser1257Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363865] |
Chr5:132642195 [GRCh38]
Chr5:131977887 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1933C>G (p.Leu645Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410950] |
Chr5:132595008 [GRCh38]
Chr5:131930700 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3602G>A (p.Cys1201Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455225] |
Chr5:132638207 [GRCh38]
Chr5:131973899 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3604A>G (p.Ser1202Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455249] |
Chr5:132638209 [GRCh38]
Chr5:131973901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1518T>C (p.Ser506=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392368] |
Chr5:132591289 [GRCh38]
Chr5:131926981 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.46G>A (p.Gly16Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335305] |
Chr5:132557370 [GRCh38]
Chr5:131893062 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1098T>A (p.Ala366=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455342] |
Chr5:132588733 [GRCh38]
Chr5:131924425 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.258T>C (p.Phe86=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426141] |
Chr5:132575821 [GRCh38]
Chr5:131911513 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3130G>A (p.Glu1044Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320593] |
Chr5:132616096 [GRCh38]
Chr5:131951788 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3082A>G (p.Asn1028Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002295974] |
Chr5:132616048 [GRCh38]
Chr5:131951740 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400573] |
Chr5:132557400 [GRCh38]
Chr5:131893092 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1854G>A (p.Lys618=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413074] |
Chr5:132594929 [GRCh38]
Chr5:131930621 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1857A>G (p.Glu619=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413106] |
Chr5:132594932 [GRCh38]
Chr5:131930624 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2071G>A (p.Glu691Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422151] |
Chr5:132595674 [GRCh38]
Chr5:131931366 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2069C>G (p.Thr690Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422080] |
Chr5:132595672 [GRCh38]
Chr5:131931364 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.764T>C (p.Leu255Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396395] |
Chr5:132587569 [GRCh38]
Chr5:131923261 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3553C>G (p.Arg1185Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002339749] |
Chr5:132638158 [GRCh38]
Chr5:131973850 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1185T>C (p.Asn395=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330756] |
Chr5:132588820 [GRCh38]
Chr5:131924512 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2139G>A (p.Lys713=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430485] |
Chr5:132595742 [GRCh38]
Chr5:131931434 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2774A>T (p.Glu925Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002300504] |
Chr5:132608670 [GRCh38]
Chr5:131944362 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1100G>T (p.Arg367Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455650] |
Chr5:132588735 [GRCh38]
Chr5:131924427 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.372T>G (p.Gly124=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353054] |
Chr5:132579323 [GRCh38]
Chr5:131915015 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3199A>T (p.Ile1067Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443339] |
Chr5:132618104 [GRCh38]
Chr5:131953796 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2074G>A (p.Ala692Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422192] |
Chr5:132595677 [GRCh38]
Chr5:131931369 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3427A>T (p.Ile1143Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333007] |
Chr5:132637152 [GRCh38]
Chr5:131972844 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.412C>G (p.Arg138Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333050] |
Chr5:132579363 [GRCh38]
Chr5:131915055 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3622T>A (p.Leu1208Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460312] |
Chr5:132640675 [GRCh38]
Chr5:131976367 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403611] |
Chr5:132588094 [GRCh38]
Chr5:131923786 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1702G>A (p.Gly568Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406333] |
Chr5:132591943 [GRCh38]
Chr5:131927635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2168A>G (p.Glu723Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002302159] |
Chr5:132595771 [GRCh38]
Chr5:131931463 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2259A>G (p.Lys753=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443666] |
Chr5:132603351 [GRCh38]
Chr5:131939043 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3581C>T (p.Ala1194Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460280] |
Chr5:132638186 [GRCh38]
Chr5:131973878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3586G>A (p.Asp1196Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460293] |
Chr5:132638191 [GRCh38]
Chr5:131973883 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2433A>G (p.Gln811=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002459902] |
Chr5:132603955 [GRCh38]
Chr5:131939647 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3160A>T (p.Lys1054Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320936] |
Chr5:132616126 [GRCh38]
Chr5:131951818 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.473A>G (p.His158Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335509] |
Chr5:132579424 [GRCh38]
Chr5:131915116 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1101A>T (p.Arg367Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432977] |
Chr5:132588736 [GRCh38]
Chr5:131924428 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.698A>C (p.Gln233Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364662] |
Chr5:132580008 [GRCh38]
Chr5:131915700 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1089T>C (p.His363=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443743] |
Chr5:132588724 [GRCh38]
Chr5:131924416 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3350T>G (p.Val1117Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320983] |
Chr5:132618255 [GRCh38]
Chr5:131953947 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1050G>C (p.Gln350His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403572] |
Chr5:132588088 [GRCh38]
Chr5:131923780 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1610A>G (p.Gln537Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400897] |
Chr5:132591381 [GRCh38]
Chr5:131927073 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.80_83del (p.Phe27fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002903349] |
Chr5:132557401..132557404 [GRCh38]
Chr5:131893093..131893096 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3300T>C (p.Ala1100=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002861405] |
Chr5:132618205 [GRCh38]
Chr5:131953897 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1139T>C (p.Leu380Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002968150] |
Chr5:132588774 [GRCh38]
Chr5:131924466 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3562A>G (p.Met1188Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002968151] |
Chr5:132638167 [GRCh38]
Chr5:131973859 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3058G>T (p.Asp1020Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002993839] |
Chr5:132616024 [GRCh38]
Chr5:131951716 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885+10_885+12del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002972173] |
Chr5:132587695..132587697 [GRCh38]
Chr5:131923387..131923389 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.747T>G (p.Asp249Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002815562] |
Chr5:132580057 [GRCh38]
Chr5:131915749 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.460G>T (p.Val154Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002815585] |
Chr5:132579411 [GRCh38]
Chr5:131915103 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1762A>C (p.Asn588His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002861663] |
Chr5:132592003 [GRCh38]
Chr5:131927695 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+3A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002858268] |
Chr5:132609212 [GRCh38]
Chr5:131944904 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3117dup (p.Gln1040fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002775560] |
Chr5:132616079..132616080 [GRCh38]
Chr5:131951771..131951772 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2917A>T (p.Lys973Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002839487] |
Chr5:132609204 [GRCh38]
Chr5:131944896 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1811C>G (p.Ser604Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003032806] |
Chr5:132594886 [GRCh38]
Chr5:131930578 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3846del (p.Glu1281_Tyr1282insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002995486] |
Chr5:132642271 [GRCh38]
Chr5:131977963 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1388A>C (p.Glu463Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003074239] |
Chr5:132589773 [GRCh38]
Chr5:131925465 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2379A>C (p.Thr793=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002861359] |
Chr5:132603471 [GRCh38]
Chr5:131939163 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1431G>A (p.Leu477=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003013916] |
Chr5:132589816 [GRCh38]
Chr5:131925508 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002681271] |
Chr5:132579305 [GRCh38]
Chr5:131914997 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.335A>G (p.Lys112Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002907990] |
Chr5:132575898 [GRCh38]
Chr5:131911590 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2400G>A (p.Met800Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002686027]|Nijmegen breakage syndrome-like disorder [RCV005034368] |
Chr5:132603922 [GRCh38]
Chr5:131939614 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-17A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002908543] |
Chr5:132609266 [GRCh38]
Chr5:131944958 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2300A>G (p.Asp767Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002726604] |
Chr5:132603392 [GRCh38]
Chr5:131939084 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3450G>C (p.Leu1150=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002947948] |
Chr5:132637175 [GRCh38]
Chr5:131972867 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1807T>C (p.Ser603Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002756414] |
Chr5:132594882 [GRCh38]
Chr5:131930574 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1748A>T (p.Lys583Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003015139] |
Chr5:132591989 [GRCh38]
Chr5:131927681 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.888T>A (p.Val296=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002681855] |
Chr5:132587926 [GRCh38]
Chr5:131923618 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3781A>G (p.Asn1261Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003016362] |
Chr5:132642206 [GRCh38]
Chr5:131977898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1820A>T (p.Asn607Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003035080] |
Chr5:132594895 [GRCh38]
Chr5:131930587 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3895A>G (p.Ile1299Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004151970] |
Chr5:132642320 [GRCh38]
Chr5:131978012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.767A>C (p.Lys256Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002881952] |
Chr5:132587572 [GRCh38]
Chr5:131923264 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1573A>T (p.Met525Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002903178] |
Chr5:132591344 [GRCh38]
Chr5:131927036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3032A>G (p.Gln1011Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002991744] |
Chr5:132609392 [GRCh38]
Chr5:131945084 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.10:g.132640805AGTA[3] |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002866067] |
Chr5:132640804..132640805 [GRCh38]
Chr5:131976496..131976497 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1392dup (p.Gln465fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002815281] |
Chr5:132589776..132589777 [GRCh38]
Chr5:131925468..131925469 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.4T>G (p.Ser2Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002815325] |
Chr5:132557328 [GRCh38]
Chr5:131893020 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2060T>C (p.Val687Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003033424] |
Chr5:132595663 [GRCh38]
Chr5:131931355 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+15A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002838156] |
Chr5:132559382 [GRCh38]
Chr5:131895074 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3807T>G (p.His1269Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002815908] |
Chr5:132642232 [GRCh38]
Chr5:131977924 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.179G>T (p.Gly60Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002995752] |
Chr5:132559333 [GRCh38]
Chr5:131895025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3919C>G (p.Leu1307Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003012454] |
Chr5:132642344 [GRCh38]
Chr5:131978036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+2dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV002686118]|RAD50-related disorder [RCV003409901] |
Chr5:132609397..132609398 [GRCh38]
Chr5:131945089..131945090 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3655_3748dup (p.Val1250delinsGlyAsnValLeuProGlnLeuTrpHisHisCysLeuGlyTer) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002862108] |
Chr5:132640707..132640708 [GRCh38]
Chr5:131976399..131976400 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3890C>G (p.Ser1297Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002967434] |
Chr5:132642315 [GRCh38]
Chr5:131978007 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3476-18T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003074816] |
Chr5:132638063 [GRCh38]
Chr5:131973755 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1822A>G (p.Lys608Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002839561] |
Chr5:132594897 [GRCh38]
Chr5:131930589 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2597C>A (p.Thr866Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003011817] |
Chr5:132604878 [GRCh38]
Chr5:131940570 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885+16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002862547] |
Chr5:132587706 [GRCh38]
Chr5:131923398 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.455A>G (p.Asn152Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002908041] |
Chr5:132579406 [GRCh38]
Chr5:131915098 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2208-18A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003011637] |
Chr5:132603282 [GRCh38]
Chr5:131938974 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.2525-19A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003016941] |
Chr5:132604787 [GRCh38]
Chr5:131940479 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3060T>C (p.Asp1020=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002858002] |
Chr5:132616026 [GRCh38]
Chr5:131951718 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-17T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002991758] |
Chr5:132638064 [GRCh38]
Chr5:131973756 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002903241] |
Chr5:132605016 [GRCh38]
Chr5:131940708 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.208C>T (p.Pro70Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002947290] |
Chr5:132559362 [GRCh38]
Chr5:131895054 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718+9A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002775602] |
Chr5:132605008 [GRCh38]
Chr5:131940700 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1246-13C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002948013] |
Chr5:132589618 [GRCh38]
Chr5:131925310 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1609C>T (p.Gln537Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003015539] |
Chr5:132591380 [GRCh38]
Chr5:131927072 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.118G>A (p.Ala40Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002837482] |
Chr5:132557442 [GRCh38]
Chr5:131893134 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2581C>T (p.Gln861Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002880479] |
Chr5:132604862 [GRCh38]
Chr5:131940554 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3094A>G (p.Lys1032Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002843336] |
Chr5:132616060 [GRCh38]
Chr5:131951752 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3014G>T (p.Arg1005Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003055365] |
Chr5:132609374 [GRCh38]
Chr5:131945066 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1420A>T (p.Ile474Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002823744] |
Chr5:132589805 [GRCh38]
Chr5:131925497 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-14G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003039217] |
Chr5:132575763 [GRCh38]
Chr5:131911455 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2955T>G (p.Ala985=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002572053] |
Chr5:132609315 [GRCh38]
Chr5:131945007 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002847794] |
Chr5:132608727 [GRCh38]
Chr5:131944419 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3164+14A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003080448] |
Chr5:132616144 [GRCh38]
Chr5:131951836 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2645A>G (p.Gln882Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003053534] |
Chr5:132604926 [GRCh38]
Chr5:131940618 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2454A>G (p.Gly818=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002662913] |
Chr5:132603976 [GRCh38]
Chr5:131939668 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.148A>T (p.Lys50Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003055407] |
Chr5:132559302 [GRCh38]
Chr5:131894994 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.886-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002889678] |
Chr5:132587920 [GRCh38]
Chr5:131923612 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-12T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003003258] |
Chr5:132638069 [GRCh38]
Chr5:131973761 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1116G>A (p.Gln372=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003002170] |
Chr5:132588751 [GRCh38]
Chr5:131924443 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.328G>A (p.Glu110Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003055786] |
Chr5:132575891 [GRCh38]
Chr5:131911583 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2485A>C (p.Asn829His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002953773] |
Chr5:132604007 [GRCh38]
Chr5:131939699 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2771A>C (p.Gln924Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003039531] |
Chr5:132608667 [GRCh38]
Chr5:131944359 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.420G>A (p.Met140Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003021593] |
Chr5:132579371 [GRCh38]
Chr5:131915063 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1970-8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002871497] |
Chr5:132595565 [GRCh38]
Chr5:131931257 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002871411] |
Chr5:132609116 [GRCh38]
Chr5:131944808 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2907A>G (p.Lys969=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003021952] |
Chr5:132609194 [GRCh38]
Chr5:131944886 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1588_1595delinsT (p.Asn529_His530insTer) |
indel |
Hereditary cancer-predisposing syndrome [RCV002909980] |
Chr5:132591359..132591366 [GRCh38]
Chr5:131927051..131927058 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1855_1858del (p.Glu619fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003054799] |
Chr5:132594927..132594930 [GRCh38]
Chr5:131930619..131930622 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3841_3857del (p.Glu1281fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002885375] |
Chr5:132642265..132642281 [GRCh38]
Chr5:131977957..131977973 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2729A>G (p.Glu910Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003054899] |
Chr5:132608625 [GRCh38]
Chr5:131944317 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2374G>A (p.Val792Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002949173] |
Chr5:132603466 [GRCh38]
Chr5:131939158 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1433A>T (p.Asp478Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002885936] |
Chr5:132589818 [GRCh38]
Chr5:131925510 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.783T>A (p.Asn261Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002912936] |
Chr5:132587588 [GRCh38]
Chr5:131923280 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207+11G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002909427] |
Chr5:132595821 [GRCh38]
Chr5:131931513 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3122A>C (p.His1041Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002705630] |
Chr5:132616088 [GRCh38]
Chr5:131951780 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002621791] |
Chr5:132591411 [GRCh38]
Chr5:131927103 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003038145] |
Chr5:132591411 [GRCh38]
Chr5:131927103 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-11_2923-7del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002949599] |
Chr5:132609268..132609272 [GRCh38]
Chr5:131944960..131944964 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003019680] |
Chr5:132609401 [GRCh38]
Chr5:131945093 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.247C>G (p.Arg83Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003000159] |
Chr5:132575810 [GRCh38]
Chr5:131911502 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1367A>G (p.Glu456Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002913018] |
Chr5:132589752 [GRCh38]
Chr5:131925444 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.20T>A (p.Met7Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004148573] |
Chr5:132557344 [GRCh38]
Chr5:131893036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1310C>T (p.Thr437Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002760773] |
Chr5:132589695 [GRCh38]
Chr5:131925387 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3253ATT[1] (p.Ile1086del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002846383] |
Chr5:132618158..132618160 [GRCh38]
Chr5:131953850..131953852 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719-19A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002979065] |
Chr5:132608596 [GRCh38]
Chr5:131944288 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1775A>G (p.Asp592Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002820200] |
Chr5:132592016 [GRCh38]
Chr5:131927708 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.364A>G (p.Lys122Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003019895] |
Chr5:132575927 [GRCh38]
Chr5:131911619 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3056A>G (p.Gln1019Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002797262] |
Chr5:132616022 [GRCh38]
Chr5:131951714 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.844del (p.Met282fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002866937] |
Chr5:132587647 [GRCh38]
Chr5:131923339 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1338A>G (p.Lys446=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002621253] |
Chr5:132589723 [GRCh38]
Chr5:131925415 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002999553] |
Chr5:132638071 [GRCh38]
Chr5:131973763 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-8T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002923103] |
Chr5:132642170 [GRCh38]
Chr5:131977862 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1452+11G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002637966] |
Chr5:132589848 [GRCh38]
Chr5:131925540 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.678G>T (p.Gln226His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002695037] |
Chr5:132579988 [GRCh38]
Chr5:131915680 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3031C>T (p.Gln1011Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002952676] |
Chr5:132609391 [GRCh38]
Chr5:131945083 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3675T>C (p.Cys1225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003036748] |
Chr5:132640728 [GRCh38]
Chr5:131976420 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2687C>A (p.Thr896Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003054071] |
Chr5:132604968 [GRCh38]
Chr5:131940660 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-19G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002823921] |
Chr5:132588668 [GRCh38]
Chr5:131924360 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3020A>T (p.Asp1007Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003038571] |
Chr5:132609380 [GRCh38]
Chr5:131945072 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2267A>G (p.Asn756Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002796144] |
Chr5:132603359 [GRCh38]
Chr5:131939051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.390C>T (p.Ser130=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003054559] |
Chr5:132579341 [GRCh38]
Chr5:131915033 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3475+11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002662514] |
Chr5:132637211 [GRCh38]
Chr5:131972903 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-3del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002823981] |
Chr5:132603295 [GRCh38]
Chr5:131938987 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1453-12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002999589] |
Chr5:132591212 [GRCh38]
Chr5:131926904 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+10C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003035701] |
Chr5:132559377 [GRCh38]
Chr5:131895069 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-2A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002868005] |
Chr5:132642176 [GRCh38]
Chr5:131977868 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-6T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003036101] |
Chr5:132575771 [GRCh38]
Chr5:131911463 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.130-16T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002591789] |
Chr5:132559268 [GRCh38]
Chr5:131894960 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3685G>A (p.Ala1229Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003054010] |
Chr5:132640738 [GRCh38]
Chr5:131976430 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+10C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003054011] |
Chr5:132559377 [GRCh38]
Chr5:131895069 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.534G>T (p.Glu178Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003021634] |
Chr5:132579485 [GRCh38]
Chr5:131915177 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2968T>C (p.Cys990Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003019396] |
Chr5:132609328 [GRCh38]
Chr5:131945020 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1518T>A (p.Ser506Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002846459] |
Chr5:132591289 [GRCh38]
Chr5:131926981 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3646G>A (p.Ala1216Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003018101] |
Chr5:132640699 [GRCh38]
Chr5:131976391 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3286_3293dup (p.Asp1099fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002952881] |
Chr5:132618190..132618191 [GRCh38]
Chr5:131953882..131953883 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3349G>A (p.Val1117Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002976123] |
Chr5:132618254 [GRCh38]
Chr5:131953946 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1461delinsTT (p.Glu487fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV002949421] |
Chr5:132591232 [GRCh38]
Chr5:131926924 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2208-13G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002796324] |
Chr5:132603287 [GRCh38]
Chr5:131938979 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+15G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002948869] |
Chr5:132618309 [GRCh38]
Chr5:131954001 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1842A>G (p.Glu614=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002927078] |
Chr5:132594917 [GRCh38]
Chr5:131930609 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002885116] |
Chr5:132588676 [GRCh38]
Chr5:131924368 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3015A>T (p.Arg1005Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002736129] |
Chr5:132609375 [GRCh38]
Chr5:131945067 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+13C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002706107] |
Chr5:132595057 [GRCh38]
Chr5:131930749 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3165-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002846574] |
Chr5:132618057 [GRCh38]
Chr5:131953749 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2718+25dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003037785] |
Chr5:132605018..132605019 [GRCh38]
Chr5:131940710..131940711 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.2958A>G (p.Gln986=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003018500] |
Chr5:132609318 [GRCh38]
Chr5:131945010 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.314A>G (p.Lys105Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002999019] |
Chr5:132575877 [GRCh38]
Chr5:131911569 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.251T>C (p.Leu84Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002797178] |
Chr5:132575814 [GRCh38]
Chr5:131911506 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1619T>C (p.Met540Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002638603] |
Chr5:132591390 [GRCh38]
Chr5:131927082 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.111C>T (p.Pro37=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002638631] |
Chr5:132557435 [GRCh38]
Chr5:131893127 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.34G>T (p.Val12Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002741219] |
Chr5:132557358 [GRCh38]
Chr5:131893050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-12C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002876695] |
Chr5:132594857 [GRCh38]
Chr5:131930549 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2945_2946insTTA (p.Lys982delinsAsnTer) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002829356] |
Chr5:132609304..132609305 [GRCh38]
Chr5:131944996..131944997 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3389+18G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002933417] |
Chr5:132618312 [GRCh38]
Chr5:131954004 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002958885] |
Chr5:132579518 [GRCh38]
Chr5:131915210 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3091C>G (p.Leu1031Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003042472] |
Chr5:132616057 [GRCh38]
Chr5:131951749 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.792A>G (p.Lys264=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002852893] |
Chr5:132587597 [GRCh38]
Chr5:131923289 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1354A>G (p.Lys452Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002918239] |
Chr5:132589739 [GRCh38]
Chr5:131925431 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1495del (p.Thr499fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002830032] |
Chr5:132591264 [GRCh38]
Chr5:131926956 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1695A>T (p.Ser565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002876671] |
Chr5:132591936 [GRCh38]
Chr5:131927628 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-16_3619-15del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002765724] |
Chr5:132640656..132640657 [GRCh38]
Chr5:131976348..131976349 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3538C>A (p.Arg1180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002596215] |
Chr5:132638143 [GRCh38]
Chr5:131973835 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1605dup (p.Thr536fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002876237] |
Chr5:132591375..132591376 [GRCh38]
Chr5:131927067..131927068 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1970-4del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003026051] |
Chr5:132595566 [GRCh38]
Chr5:131931258 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3164+11A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003008357] |
Chr5:132616141 [GRCh38]
Chr5:131951833 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+20G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002872526] |
Chr5:132609416 [GRCh38]
Chr5:131945108 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2833A>G (p.Asn945Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003005890] |
Chr5:132609120 [GRCh38]
Chr5:131944812 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.582G>C (p.Gln194His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003023609] |
Chr5:132579892 [GRCh38]
Chr5:131915584 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002894685] |
Chr5:132557454 [GRCh38]
Chr5:131893146 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2368A>G (p.Thr790Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003059727] |
Chr5:132603460 [GRCh38]
Chr5:131939152 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1452+6A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002933101] |
Chr5:132589843 [GRCh38]
Chr5:131925535 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2562G>A (p.Gln854=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002871730] |
Chr5:132604843 [GRCh38]
Chr5:131940535 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1246-6A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003005559] |
Chr5:132589625 [GRCh38]
Chr5:131925317 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1715A>C (p.Asn572Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002928873] |
Chr5:132591956 [GRCh38]
Chr5:131927648 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3323T>C (p.Met1108Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002928881] |
Chr5:132618228 [GRCh38]
Chr5:131953920 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207+15del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003057692] |
Chr5:132595823 [GRCh38]
Chr5:131931515 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2293A>G (p.Lys765Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003006168] |
Chr5:132603385 [GRCh38]
Chr5:131939077 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+12A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002852164] |
Chr5:132618306 [GRCh38]
Chr5:131953998 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1452+22_1452+26del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002851108] |
Chr5:132589855..132589859 [GRCh38]
Chr5:131925547..131925551 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+9G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003056300] |
Chr5:132604055 [GRCh38]
Chr5:131939747 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1636-19_1636-18del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002828102] |
Chr5:132591858..132591859 [GRCh38]
Chr5:131927550..131927551 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.497T>A (p.Leu166Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002828885] |
Chr5:132579448 [GRCh38]
Chr5:131915140 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3165-15T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002851961] |
Chr5:132618055 [GRCh38]
Chr5:131953747 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2719-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002801790] |
Chr5:132608614 [GRCh38]
Chr5:131944306 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3583T>C (p.Leu1195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002852112] |
Chr5:132638188 [GRCh38]
Chr5:131973880 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2922+5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003040215] |
Chr5:132609214 [GRCh38]
Chr5:131944906 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.656A>G (p.Lys219Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003040876]|Malignant tumor of breast [RCV003230761] |
Chr5:132579966 [GRCh38]
Chr5:131915658 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1491A>C (p.Val497=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002872663] |
Chr5:132591262 [GRCh38]
Chr5:131926954 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1701G>T (p.Leu567Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002802149] |
Chr5:132591942 [GRCh38]
Chr5:131927634 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+11del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002982570] |
Chr5:132609217 [GRCh38]
Chr5:131944909 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+11C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002828931] |
Chr5:132638234 [GRCh38]
Chr5:131973926 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.214-16G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002828721] |
Chr5:132575761 [GRCh38]
Chr5:131911453 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2136C>T (p.Leu712=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002802232] |
Chr5:132595739 [GRCh38]
Chr5:131931431 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3031C>A (p.Gln1011Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003040603] |
Chr5:132609391 [GRCh38]
Chr5:131945083 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3475+12G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003040616] |
Chr5:132637212 [GRCh38]
Chr5:131972904 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.917A>G (p.Asp306Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003040873] |
Chr5:132587955 [GRCh38]
Chr5:131923647 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.954A>C (p.Lys318Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002574343] |
Chr5:132587992 [GRCh38]
Chr5:131923684 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.316A>G (p.Ser106Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003043335] |
Chr5:132575879 [GRCh38]
Chr5:131911571 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.498A>G (p.Leu166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002852302] |
Chr5:132579449 [GRCh38]
Chr5:131915141 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1501A>G (p.Lys501Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003022882] |
Chr5:132591272 [GRCh38]
Chr5:131926964 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2785T>C (p.Leu929=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002958416] |
Chr5:132608681 [GRCh38]
Chr5:131944373 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.362C>T (p.Thr121Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003006500] |
Chr5:132575925 [GRCh38]
Chr5:131911617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2577G>T (p.Gln859His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002625905] |
Chr5:132604858 [GRCh38]
Chr5:131940550 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.706_711del (p.Ser236_Ser237del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002917987] |
Chr5:132580014..132580019 [GRCh38]
Chr5:131915706..131915711 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.867G>C (p.Leu289=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002875704] |
Chr5:132587672 [GRCh38]
Chr5:131923364 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398-9A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003084568] |
Chr5:132603911 [GRCh38]
Chr5:131939603 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.187G>C (p.Gly63Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003007591] |
Chr5:132559341 [GRCh38]
Chr5:131895033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3610G>A (p.Gly1204Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002801815] |
Chr5:132638215 [GRCh38]
Chr5:131973907 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3872del (p.Lys1291fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002852311] |
Chr5:132642293 [GRCh38]
Chr5:131977985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2880_2881delinsTT (p.Ile961Phe) |
indel |
Hereditary cancer-predisposing syndrome [RCV002829725] |
Chr5:132609167..132609168 [GRCh38]
Chr5:131944859..131944860 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-17T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002871785] |
Chr5:132603903 [GRCh38]
Chr5:131939595 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1052-10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002851837] |
Chr5:132588677 [GRCh38]
Chr5:131924369 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003025268] |
Chr5:132638233 [GRCh38]
Chr5:131973925 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2723C>T (p.Ala908Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002954124] |
Chr5:132608619 [GRCh38]
Chr5:131944311 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002624652] |
Chr5:132609267 [GRCh38]
Chr5:131944959 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-19A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003082133] |
Chr5:132594850 [GRCh38]
Chr5:131930542 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1040T>A (p.Leu347His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002828442] |
Chr5:132588078 [GRCh38]
Chr5:131923770 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3763A>G (p.Ser1255Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003024461] |
Chr5:132642188 [GRCh38]
Chr5:131977880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1550C>T (p.Thr517Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003056138] |
Chr5:132591321 [GRCh38]
Chr5:131927013 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1706A>T (p.Tyr569Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002918994] |
Chr5:132591947 [GRCh38]
Chr5:131927639 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3905G>A (p.Cys1302Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003023102]|RAD50-related disorder [RCV003404014] |
Chr5:132642330 [GRCh38]
Chr5:131978022 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2662G>C (p.Glu888Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003059124] |
Chr5:132604943 [GRCh38]
Chr5:131940635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3142A>T (p.Met1048Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002828676] |
Chr5:132616108 [GRCh38]
Chr5:131951800 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1408T>G (p.Ser470Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003025025] |
Chr5:132589793 [GRCh38]
Chr5:131925485 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2703G>A (p.Leu901=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002671780] |
Chr5:132604984 [GRCh38]
Chr5:131940676 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1051+12del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002900023] |
Chr5:132588101 [GRCh38]
Chr5:131923793 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-16T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003063804] |
Chr5:132594853 [GRCh38]
Chr5:131930545 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3753-16G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002835272] |
Chr5:132642162 [GRCh38]
Chr5:131977854 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.124A>C (p.Lys42Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002811640] |
Chr5:132557448 [GRCh38]
Chr5:131893140 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1935del (p.Glu647fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003048772] |
Chr5:132595009 [GRCh38]
Chr5:131930701 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3390-9C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003030875] |
Chr5:132637106 [GRCh38]
Chr5:131972798 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-20T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002810884] |
Chr5:132588667 [GRCh38]
Chr5:131924359 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3668T>G (p.Leu1223Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003066002] |
Chr5:132640721 [GRCh38]
Chr5:131976413 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636-19A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002629537] |
Chr5:132591858 [GRCh38]
Chr5:131927550 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1716C>T (p.Asn572=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002651192] |
Chr5:132591957 [GRCh38]
Chr5:131927649 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2143A>G (p.Thr715Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003027767] |
Chr5:132595746 [GRCh38]
Chr5:131931438 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3165-18C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003065309] |
Chr5:132618052 [GRCh38]
Chr5:131953744 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.64A>C (p.Lys22Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003031688] |
Chr5:132557388 [GRCh38]
Chr5:131893080 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.563C>G (p.Ala188Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002812074] |
Chr5:132579873 [GRCh38]
Chr5:131915565 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2012C>G (p.Thr671Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003060485] |
Chr5:132595615 [GRCh38]
Chr5:131931307 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+12_1969+14del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003048773] |
Chr5:132595054..132595056 [GRCh38]
Chr5:131930746..131930748 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+17A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003091584] |
Chr5:132588897 [GRCh38]
Chr5:131924589 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2208-7T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003031580] |
Chr5:132603293 [GRCh38]
Chr5:131938985 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1012C>G (p.Leu338Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003047183] |
Chr5:132588050 [GRCh38]
Chr5:131923742 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+18C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002988680] |
Chr5:132604064 [GRCh38]
Chr5:131939756 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2413G>A (p.Val805Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003087170] |
Chr5:132603935 [GRCh38]
Chr5:131939627 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2525-17A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002812107] |
Chr5:132604789 [GRCh38]
Chr5:131940481 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1352G>T (p.Ser451Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002834239] |
Chr5:132589737 [GRCh38]
Chr5:131925429 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3037-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002746029] |
Chr5:132615999 [GRCh38]
Chr5:131951691 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1390T>C (p.Leu464=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003060305] |
Chr5:132589775 [GRCh38]
Chr5:131925467 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3498G>T (p.Arg1166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002988707] |
Chr5:132638103 [GRCh38]
Chr5:131973795 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3212A>T (p.His1071Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004141022] |
Chr5:132618117 [GRCh38]
Chr5:131953809 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3862A>C (p.Arg1288=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002834997] |
Chr5:132642287 [GRCh38]
Chr5:131977979 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.366-16T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002807317] |
Chr5:132579301 [GRCh38]
Chr5:131914993 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002717233] |
Chr5:132618299 [GRCh38]
Chr5:131953991 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1861C>T (p.Gln621Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002937442] |
Chr5:132594936 [GRCh38]
Chr5:131930628 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1966C>A (p.Arg656=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002671900] |
Chr5:132595041 [GRCh38]
Chr5:131930733 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1843C>A (p.Leu615Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002895621] |
Chr5:132594918 [GRCh38]
Chr5:131930610 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1450G>A (p.Ala484Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003028589] |
Chr5:132589835 [GRCh38]
Chr5:131925527 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1697T>G (p.Leu566Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003029075] |
Chr5:132591938 [GRCh38]
Chr5:131927630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.9G>C (p.Arg3=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002899391] |
Chr5:132557333 [GRCh38]
Chr5:131893025 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3833G>A (p.Gly1278Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003046705] |
Chr5:132642258 [GRCh38]
Chr5:131977950 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2829+16T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002899399] |
Chr5:132608741 [GRCh38]
Chr5:131944433 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1587C>G (p.Asn529Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002791857] |
Chr5:132591358 [GRCh38]
Chr5:131927050 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.885+17T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002959191] |
Chr5:132587707 [GRCh38]
Chr5:131923399 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.987G>A (p.Leu329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003027942] |
Chr5:132588025 [GRCh38]
Chr5:131923717 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1741C>T (p.His581Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002600061] |
Chr5:132591982 [GRCh38]
Chr5:131927674 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3572G>C (p.Gly1191Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003044664] |
Chr5:132638177 [GRCh38]
Chr5:131973869 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1075C>G (p.Arg359Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002806488] |
Chr5:132588710 [GRCh38]
Chr5:131924402 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1038G>A (p.Leu346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002601059] |
Chr5:132588076 [GRCh38]
Chr5:131923768 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.120G>T (p.Ala40=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003086371] |
Chr5:132557444 [GRCh38]
Chr5:131893136 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1899T>C (p.Cys633=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002810978] |
Chr5:132594974 [GRCh38]
Chr5:131930666 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3575A>G (p.Asp1192Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002938685] |
Chr5:132638180 [GRCh38]
Chr5:131973872 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2725A>T (p.Lys909Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003043844]|Nijmegen breakage syndrome-like disorder [RCV003465909] |
Chr5:132608621 [GRCh38]
Chr5:131944313 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2651G>T (p.Arg884Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003043850] |
Chr5:132604932 [GRCh38]
Chr5:131940624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3438T>A (p.Ile1146=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003011192] |
Chr5:132637163 [GRCh38]
Chr5:131972855 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+12_3618+17del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002806357] |
Chr5:132638234..132638239 [GRCh38]
Chr5:131973926..131973931 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2397+12G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003062650] |
Chr5:132603501 [GRCh38]
Chr5:131939193 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3601T>A (p.Cys1201Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003030451] |
Chr5:132638206 [GRCh38]
Chr5:131973898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3834A>G (p.Gly1278=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003048573] |
Chr5:132642259 [GRCh38]
Chr5:131977951 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+16G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002966197] |
Chr5:132618310 [GRCh38]
Chr5:131954002 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.154A>C (p.Ile52Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003027239] |
Chr5:132559308 [GRCh38]
Chr5:131895000 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3029C>A (p.Thr1010Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003028078] |
Chr5:132609389 [GRCh38]
Chr5:131945081 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1778G>T (p.Arg593Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002833975] |
Chr5:132592019 [GRCh38]
Chr5:131927711 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3752+14_3752+43del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002810248] |
Chr5:132640819..132640848 [GRCh38]
Chr5:131976511..131976540 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-16G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002937963] |
Chr5:132609101 [GRCh38]
Chr5:131944793 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2598A>C (p.Thr866=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003008394] |
Chr5:132604879 [GRCh38]
Chr5:131940571 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3619-15G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002628959] |
Chr5:132640657 [GRCh38]
Chr5:131976349 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3036+16T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003029382] |
Chr5:132609412 [GRCh38]
Chr5:131945104 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.561A>C (p.Lys187Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003009842] |
Chr5:132579871 [GRCh38]
Chr5:131915563 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.881A>G (p.Glu294Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003047477] |
Chr5:132587686 [GRCh38]
Chr5:131923378 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1307A>G (p.Lys436Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003030729] |
Chr5:132589692 [GRCh38]
Chr5:131925384 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2624_2625insGTAT (p.Gln876fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002898781] |
Chr5:132604904..132604905 [GRCh38]
Chr5:131940596..131940597 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2429C>T (p.Ala810Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746653] |
Chr5:132603951 [GRCh38]
Chr5:131939643 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3210T>A (p.Asn1070Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002649648] |
Chr5:132618115 [GRCh38]
Chr5:131953807 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3677G>T (p.Gly1226Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003030805] |
Chr5:132640730 [GRCh38]
Chr5:131976422 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+9G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002806721] |
Chr5:132604055 [GRCh38]
Chr5:131939747 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2311C>T (p.Gln771Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002720155] |
Chr5:132603403 [GRCh38]
Chr5:131939095 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.801del (p.Lys267fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002601848] |
Chr5:132587604 [GRCh38]
Chr5:131923296 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3912T>C (p.Val1304=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002629133] |
Chr5:132642337 [GRCh38]
Chr5:131978029 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+3_1793+6del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003027181] |
Chr5:132592033..132592036 [GRCh38]
Chr5:131927725..131927728 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2511C>T (p.His837=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002899384] |
Chr5:132604033 [GRCh38]
Chr5:131939725 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1022A>G (p.Gln341Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003029284] |
Chr5:132588060 [GRCh38]
Chr5:131923752 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.555C>G (p.Tyr185Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003064504] |
Chr5:132579865 [GRCh38]
Chr5:131915557 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.885+10G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002792097] |
Chr5:132587700 [GRCh38]
Chr5:131923392 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1647T>G (p.Asp549Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002856531] |
Chr5:132591888 [GRCh38]
Chr5:131927580 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1437G>C (p.Gln479His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002651145] |
Chr5:132589822 [GRCh38]
Chr5:131925514 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.17A>G (p.Lys6Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002962528] |
Chr5:132557341 [GRCh38]
Chr5:131893033 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.95C>T (p.Thr32Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003049800] |
Chr5:132557419 [GRCh38]
Chr5:131893111 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2915A>C (p.Tyr972Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003050007] |
Chr5:132609202 [GRCh38]
Chr5:131944894 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-20C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002942345] |
Chr5:132603900 [GRCh38]
Chr5:131939592 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1775del (p.Asp592fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002606438] |
Chr5:132592016 [GRCh38]
Chr5:131927708 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2718+19G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002721673] |
Chr5:132605018 [GRCh38]
Chr5:131940710 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2477A>C (p.Gln826Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003069529] |
Chr5:132603999 [GRCh38]
Chr5:131939691 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.515T>C (p.Leu172Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003032239] |
Chr5:132579466 [GRCh38]
Chr5:131915158 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1262_1265del (p.Lys421fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003049763]|Nijmegen breakage syndrome-like disorder [RCV003459712] |
Chr5:132589646..132589649 [GRCh38]
Chr5:131925338..131925341 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.557T>C (p.Ile186Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003071579] |
Chr5:132579867 [GRCh38]
Chr5:131915559 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.483T>A (p.Asp161Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002608419] |
Chr5:132579434 [GRCh38]
Chr5:131915126 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207+13T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002609555] |
Chr5:132595823 [GRCh38]
Chr5:131931515 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2281A>T (p.Ile761Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003049926] |
Chr5:132603373 [GRCh38]
Chr5:131939065 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1407A>C (p.Gly469=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002608614] |
Chr5:132589792 [GRCh38]
Chr5:131925484 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.502G>A (p.Glu168Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003068748] |
Chr5:132579453 [GRCh38]
Chr5:131915145 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3855dup (p.Phe1286fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003072012] |
Chr5:132642277..132642278 [GRCh38]
Chr5:131977969..131977970 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1200G>A (p.Val400=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002587175] |
Chr5:132588835 [GRCh38]
Chr5:131924527 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1299A>G (p.Arg433=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003073283] |
Chr5:132589684 [GRCh38]
Chr5:131925376 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.550A>G (p.Arg184Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003052108] |
Chr5:132579501 [GRCh38]
Chr5:131915193 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.892C>G (p.Gln298Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002942175] |
Chr5:132587930 [GRCh38]
Chr5:131923622 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+19G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003071166] |
Chr5:132579521 [GRCh38]
Chr5:131915213 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.551+18_551+23del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003050213] |
Chr5:132579519..132579524 [GRCh38]
Chr5:131915211..131915216 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-13C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002611168] |
Chr5:132579849 [GRCh38]
Chr5:131915541 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2443A>T (p.Lys815Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002680754] |
Chr5:132603965 [GRCh38]
Chr5:131939657 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2207+18C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002606093] |
Chr5:132595828 [GRCh38]
Chr5:131931520 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3743C>A (p.Ala1248Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003051542] |
Chr5:132640796 [GRCh38]
Chr5:131976488 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3036+13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002589913] |
Chr5:132609409 [GRCh38]
Chr5:131945101 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+13G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002612464] |
Chr5:132559380 [GRCh38]
Chr5:131895072 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1293G>A (p.Glu431=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003092312] |
Chr5:132589678 [GRCh38]
Chr5:131925370 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3578C>G (p.Thr1193Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154766] |
Chr5:132638183 [GRCh38]
Chr5:131973875 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.-3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182416] |
Chr5:132557322 [GRCh38]
Chr5:131893014 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1339T>A (p.Ser447Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182417] |
Chr5:132589724 [GRCh38]
Chr5:131925416 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3030A>T (p.Thr1010=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182418] |
Chr5:132609390 [GRCh38]
Chr5:131945082 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.894A>C (p.Gln298His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182419] |
Chr5:132587932 [GRCh38]
Chr5:131923624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.569A>T (p.Glu190Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182420] |
Chr5:132579879 [GRCh38]
Chr5:131915571 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2870A>T (p.Tyr957Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182421] |
Chr5:132609157 [GRCh38]
Chr5:131944849 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1470G>A (p.Lys490=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182454] |
Chr5:132591241 [GRCh38]
Chr5:131926933 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2394C>A (p.Phe798Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182441] |
Chr5:132603486 [GRCh38]
Chr5:131939178 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.784C>T (p.Leu262Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182442] |
Chr5:132587589 [GRCh38]
Chr5:131923281 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1716C>G (p.Asn572Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182443] |
Chr5:132591957 [GRCh38]
Chr5:131927649 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3601T>G (p.Cys1201Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182444] |
Chr5:132638206 [GRCh38]
Chr5:131973898 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2280C>G (p.Asp760Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182445] |
Chr5:132603372 [GRCh38]
Chr5:131939064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.246T>G (p.Ile82Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182446] |
Chr5:132575809 [GRCh38]
Chr5:131911501 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2797A>G (p.Lys933Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182447] |
Chr5:132608693 [GRCh38]
Chr5:131944385 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2386G>C (p.Glu796Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182448] |
Chr5:132603478 [GRCh38]
Chr5:131939170 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2874G>A (p.Met958Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182449] |
Chr5:132609161 [GRCh38]
Chr5:131944853 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1315C>A (p.Leu439Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182450] |
Chr5:132589700 [GRCh38]
Chr5:131925392 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1601C>G (p.Thr534Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182451] |
Chr5:132591372 [GRCh38]
Chr5:131927064 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.745G>A (p.Asp249Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182452] |
Chr5:132580055 [GRCh38]
Chr5:131915747 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2452G>A (p.Gly818Arg) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003135198] |
Chr5:132603974 [GRCh38]
Chr5:131939666 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3055C>G (p.Gln1019Glu) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003135199] |
Chr5:132616021 [GRCh38]
Chr5:131951713 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1950A>G (p.Glu650=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182453] |
Chr5:132595025 [GRCh38]
Chr5:131930717 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3660G>C (p.Thr1220=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164979] |
Chr5:132640713 [GRCh38]
Chr5:131976405 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.633A>C (p.Lys211Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182422] |
Chr5:132579943 [GRCh38]
Chr5:131915635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3659C>T (p.Thr1220Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182423] |
Chr5:132640712 [GRCh38]
Chr5:131976404 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2044C>A (p.Pro682Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182424] |
Chr5:132595647 [GRCh38]
Chr5:131931339 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2514G>A (p.Lys838=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182425] |
Chr5:132604036 [GRCh38]
Chr5:131939728 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.959G>C (p.Arg320Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182426] |
Chr5:132587997 [GRCh38]
Chr5:131923689 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2804C>G (p.Thr935Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182427] |
Chr5:132608700 [GRCh38]
Chr5:131944392 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1634A>G (p.Lys545Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182428] |
Chr5:132591405 [GRCh38]
Chr5:131927097 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2620A>G (p.Lys874Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182429] |
Chr5:132604901 [GRCh38]
Chr5:131940593 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2977C>T (p.His993Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182430] |
Chr5:132609337 [GRCh38]
Chr5:131945029 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3810T>A (p.Asp1270Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182431] |
Chr5:132642235 [GRCh38]
Chr5:131977927 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2758G>A (p.Glu920Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182432] |
Chr5:132608654 [GRCh38]
Chr5:131944346 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1733A>T (p.Asp578Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182433] |
Chr5:132591974 [GRCh38]
Chr5:131927666 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1883A>C (p.Lys628Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182434] |
Chr5:132594958 [GRCh38]
Chr5:131930650 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2167G>C (p.Glu723Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182435] |
Chr5:132595770 [GRCh38]
Chr5:131931462 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.895G>A (p.Gly299Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182436] |
Chr5:132587933 [GRCh38]
Chr5:131923625 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2886G>T (p.Glu962Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182437] |
Chr5:132609173 [GRCh38]
Chr5:131944865 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3496C>G (p.Arg1166Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182438] |
Chr5:132638101 [GRCh38]
Chr5:131973793 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.362C>G (p.Thr121Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182439] |
Chr5:132575925 [GRCh38]
Chr5:131911617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1956A>G (p.Ser652=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182440] |
Chr5:132595031 [GRCh38]
Chr5:131930723 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2265G>T (p.Gln755His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339072] |
Chr5:132603357 [GRCh38]
Chr5:131939049 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2107T>G (p.Ser703Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339073] |
Chr5:132595710 [GRCh38]
Chr5:131931402 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2943T>A (p.Asn981Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339075] |
Chr5:132609303 [GRCh38]
Chr5:131944995 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.846G>T (p.Met282Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339076] |
Chr5:132587651 [GRCh38]
Chr5:131923343 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2382T>C (p.Ile794=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339077] |
Chr5:132603474 [GRCh38]
Chr5:131939166 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2221G>C (p.Asp741His) |
single nucleotide variant |
Familial cancer of breast [RCV003328524] |
Chr5:132603313 [GRCh38]
Chr5:131939005 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2079G>A (p.Glu693=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339074] |
Chr5:132595682 [GRCh38]
Chr5:131931374 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu) |
single nucleotide variant |
Familial cancer of breast [RCV003328097] |
Chr5:132642315 [GRCh38]
Chr5:131978007 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2410G>A (p.Asp804Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341706] |
Chr5:132603932 [GRCh38]
Chr5:131939624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3521C>G (p.Ser1174Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341709] |
Chr5:132638126 [GRCh38]
Chr5:131973818 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3633C>A (p.Leu1211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341713] |
Chr5:132640686 [GRCh38]
Chr5:131976378 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2150C>T (p.Ser717Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341716] |
Chr5:132595753 [GRCh38]
Chr5:131931445 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1429C>G (p.Leu477Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341703] |
Chr5:132589814 [GRCh38]
Chr5:131925506 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3648C>G (p.Ala1216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341710] |
Chr5:132640701 [GRCh38]
Chr5:131976393 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.177T>A (p.Pro59=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341712] |
Chr5:132559331 [GRCh38]
Chr5:131895023 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1691C>T (p.Thr564Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341714] |
Chr5:132591932 [GRCh38]
Chr5:131927624 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2685C>T (p.Ser895=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341715] |
Chr5:132604966 [GRCh38]
Chr5:131940658 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2464G>A (p.Asp822Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377579] |
Chr5:132603986 [GRCh38]
Chr5:131939678 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.234G>A (p.Val78=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377580] |
Chr5:132575797 [GRCh38]
Chr5:131911489 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV003463431] |
Chr5:132589679..132589680 [GRCh38]
Chr5:131925371..131925372 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1280_1283del (p.Lys427fs) |
deletion |
not provided [RCV003477356] |
Chr5:132589664..132589667 [GRCh38]
Chr5:131925356..131925359 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3165-2A>G |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463433] |
Chr5:132618068 [GRCh38]
Chr5:131953760 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463435] |
Chr5:132594951 [GRCh38]
Chr5:131930643 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3058del (p.Asp1020fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV003471773] |
Chr5:132616024 [GRCh38]
Chr5:131951716 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3036+3A>G |
single nucleotide variant |
not provided [RCV003477357] |
Chr5:132609399 [GRCh38]
Chr5:131945091 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3064C>A (p.Leu1022Ile) |
single nucleotide variant |
not provided [RCV003477358] |
Chr5:132616030 [GRCh38]
Chr5:131951722 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.660T>C (p.Ala220=) |
single nucleotide variant |
not provided [RCV003477359] |
Chr5:132579970 [GRCh38]
Chr5:131915662 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.983A>C (p.Glu328Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585418]|not provided [RCV003477360] |
Chr5:132588021 [GRCh38]
Chr5:131923713 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2966_2969del (p.Glu989fs) |
deletion |
not provided [RCV003429764] |
Chr5:132609324..132609327 [GRCh38]
Chr5:131945016..131945019 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+1G>C |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463436] |
Chr5:132579503 [GRCh38]
Chr5:131915195 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV003471771] |
Chr5:132616031..132616035 [GRCh38]
Chr5:131951723..131951727 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.77C>G (p.Thr26Ser) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463430] |
Chr5:132557401 [GRCh38]
Chr5:131893093 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+37C>G |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463432] |
Chr5:132557490 [GRCh38]
Chr5:131893182 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3429C>G (p.Ile1143Met) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003471768] |
Chr5:132637154 [GRCh38]
Chr5:131972846 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.304_307del (p.Cys102fs) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV003471775] |
Chr5:132575867..132575870 [GRCh38]
Chr5:131911559..131911562 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3564dup (p.Leu1189fs) |
duplication |
Nijmegen breakage syndrome-like disorder [RCV003471777] |
Chr5:132638168..132638169 [GRCh38]
Chr5:131973860..131973861 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1052dup |
duplication |
Nijmegen breakage syndrome-like disorder [RCV003471774] |
Chr5:132588685..132588686 [GRCh38]
Chr5:131924377..131924378 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3484T>A (p.Tyr1162Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004362836]|RAD50-related disorder [RCV003399998] |
Chr5:132638089 [GRCh38]
Chr5:131973781 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3753-2A>G |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463429] |
Chr5:132642176 [GRCh38]
Chr5:131977868 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3752+1G>A |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003463434] |
Chr5:132640806 [GRCh38]
Chr5:131976498 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3565C>G (p.Leu1189Val) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV003471769] |
Chr5:132638170 [GRCh38]
Chr5:131973862 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2050dup (p.Cys684fs) |
duplication |
Nijmegen breakage syndrome-like disorder [RCV003471772] |
Chr5:132595650..132595651 [GRCh38]
Chr5:131931342..131931343 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.475C>T (p.Gln159Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585410]|Nijmegen breakage syndrome-like disorder [RCV003471776] |
Chr5:132579426 [GRCh38]
Chr5:131915118 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.1435C>T (p.Gln479Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746679]|RAD50-related disorder [RCV003405803] |
Chr5:132589820 [GRCh38]
Chr5:131925512 [GRCh37]
Chr5:5q31.1 |
pathogenic|likely pathogenic |
| NM_005732.4(RAD50):c.2633C>A (p.Ser878Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003831715] |
Chr5:132604914 [GRCh38]
Chr5:131940606 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2118A>G (p.Arg706=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003829924] |
Chr5:132595721 [GRCh38]
Chr5:131931413 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1364A>T (p.Asn455Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003828812] |
Chr5:132589749 [GRCh38]
Chr5:131925441 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1892A>C (p.Asp631Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003881181] |
Chr5:132594967 [GRCh38]
Chr5:131930659 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3176_3185del (p.Lys1059fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003875918] |
Chr5:132618078..132618087 [GRCh38]
Chr5:131953770..131953779 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3312T>C (p.Tyr1104=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003830900] |
Chr5:132618217 [GRCh38]
Chr5:131953909 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.84C>A (p.Phe28Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003877884] |
Chr5:132557408 [GRCh38]
Chr5:131893100 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.800A>T (p.Lys267Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003878903] |
Chr5:132587605 [GRCh38]
Chr5:131923297 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1794-9T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003881492] |
Chr5:132594860 [GRCh38]
Chr5:131930552 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.314A>C (p.Lys105Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003876258] |
Chr5:132575877 [GRCh38]
Chr5:131911569 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1246-12A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584062] |
Chr5:132589619 [GRCh38]
Chr5:131925311 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2282T>A (p.Ile761Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584077] |
Chr5:132603374 [GRCh38]
Chr5:131939066 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3389+18del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003584082] |
Chr5:132618309 [GRCh38]
Chr5:131954001 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.757-11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584097] |
Chr5:132587551 [GRCh38]
Chr5:131923243 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3165-17A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584108] |
Chr5:132618053 [GRCh38]
Chr5:131953745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+18G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584094] |
Chr5:132557471 [GRCh38]
Chr5:131893163 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1970-19A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584102] |
Chr5:132595554 [GRCh38]
Chr5:131931246 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2311C>G (p.Gln771Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584196] |
Chr5:132603403 [GRCh38]
Chr5:131939095 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1461G>C (p.Glu487Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584256] |
Chr5:132591232 [GRCh38]
Chr5:131926924 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2556T>C (p.Leu852=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584238] |
Chr5:132604837 [GRCh38]
Chr5:131940529 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584271] |
Chr5:132594990 [GRCh38]
Chr5:131930682 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3914G>C (p.Ser1305Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584298] |
Chr5:132642339 [GRCh38]
Chr5:131978031 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3761A>T (p.Lys1254Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584299] |
Chr5:132642186 [GRCh38]
Chr5:131977878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3748G>C (p.Val1250Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585599] |
Chr5:132640801 [GRCh38]
Chr5:131976493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585427] |
Chr5:132559283 [GRCh38]
Chr5:131894975 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.365+15G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585434] |
Chr5:132575943 [GRCh38]
Chr5:131911635 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2524+7C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584344] |
Chr5:132604053 [GRCh38]
Chr5:131939745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3389+14_3389+15del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003585455] |
Chr5:132618308..132618309 [GRCh38]
Chr5:131954000..131954001 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1009A>G (p.Arg337Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584354] |
Chr5:132588047 [GRCh38]
Chr5:131923739 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3118C>G (p.Gln1040Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584367] |
Chr5:132616084 [GRCh38]
Chr5:131951776 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1994T>G (p.Val665Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584372] |
Chr5:132595597 [GRCh38]
Chr5:131931289 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1301A>C (p.Asp434Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585485] |
Chr5:132589686 [GRCh38]
Chr5:131925378 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-16G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584180] |
Chr5:132575761 [GRCh38]
Chr5:131911453 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3463T>A (p.Tyr1155Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584202] |
Chr5:132637188 [GRCh38]
Chr5:131972880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3186G>A (p.Glu1062=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584226] |
Chr5:132618091 [GRCh38]
Chr5:131953783 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003850765] |
Chr5:132557454 [GRCh38]
Chr5:131893146 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2241A>G (p.Ile747Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584215] |
Chr5:132603333 [GRCh38]
Chr5:131939025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584254] |
Chr5:132579396 [GRCh38]
Chr5:131915088 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2621A>C (p.Lys874Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584240] |
Chr5:132604902 [GRCh38]
Chr5:131940594 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2925A>G (p.Gln975=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584277] |
Chr5:132609285 [GRCh38]
Chr5:131944977 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2685del (p.Thr896fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003584286] |
Chr5:132604965 [GRCh38]
Chr5:131940657 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1641C>A (p.Asp547Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584237] |
Chr5:132591882 [GRCh38]
Chr5:131927574 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.886-8T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584304] |
Chr5:132587916 [GRCh38]
Chr5:131923608 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2829dup (p.Leu944fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003585558] |
Chr5:132608722..132608723 [GRCh38]
Chr5:131944414..131944415 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.552-8C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585565] |
Chr5:132579854 [GRCh38]
Chr5:131915546 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1751C>G (p.Ser584Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585576] |
Chr5:132591992 [GRCh38]
Chr5:131927684 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2207+11G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585581] |
Chr5:132595821 [GRCh38]
Chr5:131931513 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3064C>T (p.Leu1022Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584067] |
Chr5:132616030 [GRCh38]
Chr5:131951722 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2719-17C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584070] |
Chr5:132608598 [GRCh38]
Chr5:131944290 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2613A>C (p.Lys871Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584073] |
Chr5:132604894 [GRCh38]
Chr5:131940586 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-13dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003585433] |
Chr5:132559267..132559268 [GRCh38]
Chr5:131894959..131894960 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.3390-5T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584096] |
Chr5:132637110 [GRCh38]
Chr5:131972802 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2830-11T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584123] |
Chr5:132609106 [GRCh38]
Chr5:131944798 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.758A>G (p.Asn253Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585441] |
Chr5:132587563 [GRCh38]
Chr5:131923255 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.93T>G (p.Leu31=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584165] |
Chr5:132557417 [GRCh38]
Chr5:131893109 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2158A>G (p.Lys720Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584171] |
Chr5:132595761 [GRCh38]
Chr5:131931453 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2293A>C (p.Lys765Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584178] |
Chr5:132603385 [GRCh38]
Chr5:131939077 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.389G>A (p.Ser130Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585453] |
Chr5:132579340 [GRCh38]
Chr5:131915032 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.206A>T (p.Asp69Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585461] |
Chr5:132559360 [GRCh38]
Chr5:131895052 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.548C>G (p.Thr183Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584192] |
Chr5:132579499 [GRCh38]
Chr5:131915191 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-13T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584244] |
Chr5:132588674 [GRCh38]
Chr5:131924366 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.886-10T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584250] |
Chr5:132587914 [GRCh38]
Chr5:131923606 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3382C>T (p.Leu1128Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584253] |
Chr5:132618287 [GRCh38]
Chr5:131953979 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3258T>G (p.Ile1086Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585463] |
Chr5:132618163 [GRCh38]
Chr5:131953855 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.609A>G (p.Val203=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584257] |
Chr5:132579919 [GRCh38]
Chr5:131915611 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584258] |
Chr5:132592038 [GRCh38]
Chr5:131927730 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3810_3840dup (p.Glu1281Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003584269] |
Chr5:132642234..132642235 [GRCh38]
Chr5:131977926..131977927 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2694T>G (p.Val898=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584272] |
Chr5:132604975 [GRCh38]
Chr5:131940667 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1040T>G (p.Leu347Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585487] |
Chr5:132588078 [GRCh38]
Chr5:131923770 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3187A>G (p.Asn1063Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585489] |
Chr5:132618092 [GRCh38]
Chr5:131953784 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3164+10T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585494] |
Chr5:132616140 [GRCh38]
Chr5:131951832 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.756+15T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584303] |
Chr5:132580081 [GRCh38]
Chr5:131915773 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1226A>G (p.Lys409Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584232] |
Chr5:132588861 [GRCh38]
Chr5:131924553 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.262G>A (p.Asp88Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003834244] |
Chr5:132575825 [GRCh38]
Chr5:131911517 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1466G>C (p.Ser489Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585500] |
Chr5:132591237 [GRCh38]
Chr5:131926929 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2546A>G (p.Asn849Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584089] |
Chr5:132604827 [GRCh38]
Chr5:131940519 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584116] |
Chr5:132575776 [GRCh38]
Chr5:131911468 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3656A>G (p.Glu1219Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584378] |
Chr5:132640709 [GRCh38]
Chr5:131976401 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3880G>C (p.Asp1294His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584076] |
Chr5:132642305 [GRCh38]
Chr5:131977997 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.21G>A (p.Met7Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584135] |
Chr5:132557345 [GRCh38]
Chr5:131893037 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3046A>G (p.Arg1016Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585522] |
Chr5:132616012 [GRCh38]
Chr5:131951704 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.453A>G (p.Leu151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584268] |
Chr5:132579404 [GRCh38]
Chr5:131915096 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2797A>T (p.Lys933Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584285] |
Chr5:132608693 [GRCh38]
Chr5:131944385 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3165-11C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584195] |
Chr5:132618059 [GRCh38]
Chr5:131953751 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.693A>G (p.Glu231=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584245] |
Chr5:132580003 [GRCh38]
Chr5:131915695 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584276] |
Chr5:132594857 [GRCh38]
Chr5:131930549 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2959C>T (p.Leu987=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584391] |
Chr5:132609319 [GRCh38]
Chr5:131945011 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.885+15A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584402] |
Chr5:132587705 [GRCh38]
Chr5:131923397 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.258dup (p.Arg87fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003584218] |
Chr5:132575818..132575819 [GRCh38]
Chr5:131911510..131911511 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1519C>G (p.Leu507Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584214] |
Chr5:132591290 [GRCh38]
Chr5:131926982 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-18G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584275] |
Chr5:132609265 [GRCh38]
Chr5:131944957 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3371A>G (p.Tyr1124Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585529] |
Chr5:132618276 [GRCh38]
Chr5:131953968 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3593_3603del (p.Arg1198fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003585537] |
Chr5:132638194..132638204 [GRCh38]
Chr5:131973886..131973896 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.756+13del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003584302] |
Chr5:132580076 [GRCh38]
Chr5:131915768 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3880_3881insT (p.Asp1294fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV003584338] |
Chr5:132642305..132642306 [GRCh38]
Chr5:131977997..131977998 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3363G>A (p.Leu1121=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584343] |
Chr5:132618268 [GRCh38]
Chr5:131953960 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.352A>T (p.Ile118Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584349] |
Chr5:132575915 [GRCh38]
Chr5:131911607 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3453G>C (p.Trp1151Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584381] |
Chr5:132637178 [GRCh38]
Chr5:131972870 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.688_689inv (p.Lys230Leu) |
inversion |
Hereditary cancer-predisposing syndrome [RCV003584383] |
Chr5:132579998..132579999 [GRCh38]
Chr5:131915690..131915691 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1196T>A (p.Leu399His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584290] |
Chr5:132588831 [GRCh38]
Chr5:131924523 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2730G>A (p.Glu910=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584315] |
Chr5:132608626 [GRCh38]
Chr5:131944318 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.64A>G (p.Lys22Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584346] |
Chr5:132557388 [GRCh38]
Chr5:131893080 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+13T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584357] |
Chr5:132557466 [GRCh38]
Chr5:131893158 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1970-4dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003584392] |
Chr5:132595565..132595566 [GRCh38]
Chr5:131931257..131931258 [GRCh37]
Chr5:5q31.1 |
benign |
| NM_005732.4(RAD50):c.493C>T (p.Pro165Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584289] |
Chr5:132579444 [GRCh38]
Chr5:131915136 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1184A>T (p.Asn395Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584313] |
Chr5:132588819 [GRCh38]
Chr5:131924511 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3752+18A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584317] |
Chr5:132640823 [GRCh38]
Chr5:131976515 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2391G>A (p.Arg797=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584345] |
Chr5:132603483 [GRCh38]
Chr5:131939175 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1246-6A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584353] |
Chr5:132589625 [GRCh38]
Chr5:131925317 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1078C>G (p.His360Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584373] |
Chr5:132588713 [GRCh38]
Chr5:131924405 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.356C>G (p.Thr119Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585549] |
Chr5:132575919 [GRCh38]
Chr5:131911611 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2207+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585550] |
Chr5:132595811 [GRCh38]
Chr5:131931503 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1350A>C (p.Leu450=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584312] |
Chr5:132589735 [GRCh38]
Chr5:131925427 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2338C>T (p.Pro780Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584404] |
Chr5:132603430 [GRCh38]
Chr5:131939122 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.593C>G (p.Thr198Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584407] |
Chr5:132579903 [GRCh38]
Chr5:131915595 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.834A>G (p.Arg278=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584380] |
Chr5:132587639 [GRCh38]
Chr5:131923331 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3559G>A (p.Val1187Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584228] |
Chr5:132638164 [GRCh38]
Chr5:131973856 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.757-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584387] |
Chr5:132587560 [GRCh38]
Chr5:131923252 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2444del (p.Lys815fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003584389] |
Chr5:132603965 [GRCh38]
Chr5:131939657 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1011G>T (p.Arg337Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585559] |
Chr5:132588049 [GRCh38]
Chr5:131923741 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2830-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585560] |
Chr5:132609114 [GRCh38]
Chr5:131944806 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1084G>C (p.Glu362Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585574] |
Chr5:132588719 [GRCh38]
Chr5:131924411 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.214-19T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585578] |
Chr5:132575758 [GRCh38]
Chr5:131911450 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585589] |
Chr5:132559375 [GRCh38]
Chr5:131895067 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1019A>T (p.Asn340Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585593] |
Chr5:132588057 [GRCh38]
Chr5:131923749 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3239G>C (p.Gly1080Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003585595] |
Chr5:132618144 [GRCh38]
Chr5:131953836 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.233_235dup (p.Val78_Arg79insMet) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003585598] |
Chr5:132575795..132575796 [GRCh38]
Chr5:131911487..131911488 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2923-12T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003856178] |
Chr5:132609271 [GRCh38]
Chr5:131944963 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.942A>T (p.Thr314=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584035] |
Chr5:132587980 [GRCh38]
Chr5:131923672 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.167A>G (p.Asp56Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584040] |
Chr5:132559321 [GRCh38]
Chr5:131895013 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1362G>A (p.Gln454=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584046] |
Chr5:132589747 [GRCh38]
Chr5:131925439 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+19A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003851304] |
Chr5:132588899 [GRCh38]
Chr5:131924591 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3116A>G (p.Lys1039Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003852685] |
Chr5:132616082 [GRCh38]
Chr5:131951774 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+19A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003584027] |
Chr5:132592053 [GRCh38]
Chr5:131927745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1747A>T (p.Lys583Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003862219] |
Chr5:132591988 [GRCh38]
Chr5:131927680 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1453-16A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003848577] |
Chr5:132591208 [GRCh38]
Chr5:131926900 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1245+16T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003861230] |
Chr5:132588896 [GRCh38]
Chr5:131924588 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3725T>A (p.Ile1242Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003860220] |
Chr5:132640778 [GRCh38]
Chr5:131976470 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1475A>G (p.Glu492Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003819514] |
Chr5:132591246 [GRCh38]
Chr5:131926938 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2351G>C (p.Ser784Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003870513] |
Chr5:132603443 [GRCh38]
Chr5:131939135 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2829+16T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003863066] |
Chr5:132608741 [GRCh38]
Chr5:131944433 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2470A>G (p.Thr824Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746709] |
Chr5:132603992 [GRCh38]
Chr5:131939684 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1568A>C (p.Gln523Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746715] |
Chr5:132591339 [GRCh38]
Chr5:131927031 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2525-12G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003867287] |
Chr5:132604794 [GRCh38]
Chr5:131940486 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2478A>G (p.Gln826=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746839]|not provided [RCV004999983] |
Chr5:132604000 [GRCh38]
Chr5:131939692 [GRCh37]
Chr5:5q31.1 |
likely benign|uncertain significance |
| NM_005732.4(RAD50):c.3752+20_3752+22delinsTTA |
indel |
Hereditary cancer-predisposing syndrome [RCV003746854] |
Chr5:132640825..132640827 [GRCh38]
Chr5:131976517..131976519 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2006T>A (p.Phe669Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746973] |
Chr5:132595609 [GRCh38]
Chr5:131931301 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3695A>G (p.Glu1232Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747047] |
Chr5:132640748 [GRCh38]
Chr5:131976440 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2453G>T (p.Gly818Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747051] |
Chr5:132603975 [GRCh38]
Chr5:131939667 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3652G>A (p.Ala1218Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746200] |
Chr5:132640705 [GRCh38]
Chr5:131976397 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.552-7T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746201] |
Chr5:132579855 [GRCh38]
Chr5:131915547 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1911T>C (p.Asp637=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746219] |
Chr5:132594986 [GRCh38]
Chr5:131930678 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3653C>T (p.Ala1218Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747052] |
Chr5:132640706 [GRCh38]
Chr5:131976398 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1488T>A (p.Asn496Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747056] |
Chr5:132591259 [GRCh38]
Chr5:131926951 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1316T>G (p.Leu439Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747058] |
Chr5:132589701 [GRCh38]
Chr5:131925393 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.705A>C (p.Thr235=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747090] |
Chr5:132580015 [GRCh38]
Chr5:131915707 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2888A>G (p.Asn963Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747093] |
Chr5:132609175 [GRCh38]
Chr5:131944867 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1451C>T (p.Ala484Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747098] |
Chr5:132589836 [GRCh38]
Chr5:131925528 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2086G>C (p.Glu696Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747099] |
Chr5:132595689 [GRCh38]
Chr5:131931381 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.25A>G (p.Ile9Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747102] |
Chr5:132557349 [GRCh38]
Chr5:131893041 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2416G>C (p.Glu806Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747110] |
Chr5:132603938 [GRCh38]
Chr5:131939630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3624A>T (p.Leu1208Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747131] |
Chr5:132640677 [GRCh38]
Chr5:131976369 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3709C>T (p.Leu1237Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747132] |
Chr5:132640762 [GRCh38]
Chr5:131976454 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.181_182del (p.Thr61fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747148] |
Chr5:132559335..132559336 [GRCh38]
Chr5:131895027..131895028 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2838dup (p.Ile947fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003747165] |
Chr5:132609124..132609125 [GRCh38]
Chr5:131944816..131944817 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3073A>G (p.Arg1025Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747168] |
Chr5:132616039 [GRCh38]
Chr5:131951731 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1639G>A (p.Asp547Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747169] |
Chr5:132591880 [GRCh38]
Chr5:131927572 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.153T>C (p.Tyr51=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746226] |
Chr5:132559307 [GRCh38]
Chr5:131894999 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3124T>G (p.Leu1042Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746230] |
Chr5:132616090 [GRCh38]
Chr5:131951782 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2362T>C (p.Cys788Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746234] |
Chr5:132603454 [GRCh38]
Chr5:131939146 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3360T>C (p.Asp1120=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746244] |
Chr5:132618265 [GRCh38]
Chr5:131953957 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.161C>T (p.Thr54Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746285] |
Chr5:132559315 [GRCh38]
Chr5:131895007 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3097G>T (p.Glu1033Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746288] |
Chr5:132616063 [GRCh38]
Chr5:131951755 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1452+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746336] |
Chr5:132589841 [GRCh38]
Chr5:131925533 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1318G>A (p.Gly440Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746353] |
Chr5:132589703 [GRCh38]
Chr5:131925395 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3327T>C (p.Ile1109=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746356] |
Chr5:132618232 [GRCh38]
Chr5:131953924 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2207+19T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746264] |
Chr5:132595829 [GRCh38]
Chr5:131931521 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3752+4_3752+7del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003746395] |
Chr5:132640805..132640808 [GRCh38]
Chr5:131976497..131976500 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1085A>G (p.Glu362Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746447] |
Chr5:132588720 [GRCh38]
Chr5:131924412 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1250A>T (p.Asp417Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746923] |
Chr5:132589635 [GRCh38]
Chr5:131925327 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.213+18_213+19insAT |
insertion |
Hereditary cancer-predisposing syndrome [RCV003746929] |
Chr5:132559385..132559386 [GRCh38]
Chr5:131895077..131895078 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.756G>T (p.Lys252Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746930] |
Chr5:132580066 [GRCh38]
Chr5:131915758 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.756+2del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746931] |
Chr5:132580068 [GRCh38]
Chr5:131915760 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1635+12C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746935] |
Chr5:132591418 [GRCh38]
Chr5:131927110 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2255del (p.Asn752fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746964] |
Chr5:132603345 [GRCh38]
Chr5:131939037 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3461C>G (p.Thr1154Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746970] |
Chr5:132637186 [GRCh38]
Chr5:131972878 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.347G>T (p.Gly116Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746971] |
Chr5:132575910 [GRCh38]
Chr5:131911602 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1205A>G (p.Glu402Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746988] |
Chr5:132588840 [GRCh38]
Chr5:131924532 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3301G>T (p.Glu1101Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747000] |
Chr5:132618206 [GRCh38]
Chr5:131953898 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.129+2T>C |
single nucleotide variant |
Familial cancer of breast [RCV004556876]|Hereditary cancer-predisposing syndrome [RCV003747003] |
Chr5:132557455 [GRCh38]
Chr5:131893147 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747041] |
Chr5:132575906 [GRCh38]
Chr5:131911598 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1152G>T (p.Glu384Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747043] |
Chr5:132588787 [GRCh38]
Chr5:131924479 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747109] |
Chr5:132589751 [GRCh38]
Chr5:131925443 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3239del (p.Gly1080fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747112] |
Chr5:132618143 [GRCh38]
Chr5:131953835 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2503A>T (p.Lys835Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747119] |
Chr5:132604025 [GRCh38]
Chr5:131939717 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2873T>G (p.Met958Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747141] |
Chr5:132609160 [GRCh38]
Chr5:131944852 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.191A>G (p.Asn64Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003869627] |
Chr5:132559345 [GRCh38]
Chr5:131895037 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1871G>C (p.Ser624Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747236] |
Chr5:132594946 [GRCh38]
Chr5:131930638 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2653C>T (p.Gln885Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747242] |
Chr5:132604934 [GRCh38]
Chr5:131940626 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.930T>G (p.Asn310Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003868308] |
Chr5:132587968 [GRCh38]
Chr5:131923660 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3246A>G (p.Glu1082=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747264] |
Chr5:132618151 [GRCh38]
Chr5:131953843 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.223G>T (p.Glu75Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747267] |
Chr5:132575786 [GRCh38]
Chr5:131911478 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2900A>G (p.Asp967Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747268] |
Chr5:132609187 [GRCh38]
Chr5:131944879 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2495A>G (p.Lys832Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747279] |
Chr5:132604017 [GRCh38]
Chr5:131939709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.391T>C (p.Ser131Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747282] |
Chr5:132579342 [GRCh38]
Chr5:131915034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747072] |
Chr5:132591417 [GRCh38]
Chr5:131927109 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1440G>T (p.Glu480Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747293] |
Chr5:132589825 [GRCh38]
Chr5:131925517 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.138dup (p.Glu47Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003747299] |
Chr5:132559290..132559291 [GRCh38]
Chr5:131894982..131894983 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.213+16_213+39del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747306] |
Chr5:132559381..132559404 [GRCh38]
Chr5:131895073..131895096 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3554G>T (p.Arg1185Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747309] |
Chr5:132638159 [GRCh38]
Chr5:131973851 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1060C>T (p.Gln354Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747269] |
Chr5:132588695 [GRCh38]
Chr5:131924387 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.886-8T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003820159] |
Chr5:132587916 [GRCh38]
Chr5:131923608 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.911T>G (p.Leu304Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747405] |
Chr5:132587949 [GRCh38]
Chr5:131923641 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2803A>C (p.Thr935Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747407] |
Chr5:132608699 [GRCh38]
Chr5:131944391 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1248T>G (p.Asn416Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747315] |
Chr5:132589633 [GRCh38]
Chr5:131925325 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+8A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747327] |
Chr5:132588097 [GRCh38]
Chr5:131923789 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.856A>C (p.Asn286His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747334] |
Chr5:132587661 [GRCh38]
Chr5:131923353 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2638A>G (p.Asn880Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747384] |
Chr5:132604919 [GRCh38]
Chr5:131940611 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.906_914dup (p.Leu304_Asn305insLysGlnLeu) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003867987] |
Chr5:132587942..132587943 [GRCh38]
Chr5:131923634..131923635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1452+14T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747665] |
Chr5:132589851 [GRCh38]
Chr5:131925543 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.536T>A (p.Ile179Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746010] |
Chr5:132579487 [GRCh38]
Chr5:131915179 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2963G>T (p.Ser988Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746015] |
Chr5:132609323 [GRCh38]
Chr5:131945015 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1236C>G (p.Asn412Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746016] |
Chr5:132588871 [GRCh38]
Chr5:131924563 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2948T>G (p.Val983Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746023] |
Chr5:132609308 [GRCh38]
Chr5:131945000 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.242A>G (p.Gln81Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746025] |
Chr5:132575805 [GRCh38]
Chr5:131911497 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3112A>G (p.Arg1038Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746049] |
Chr5:132616078 [GRCh38]
Chr5:131951770 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3868A>G (p.Lys1290Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003872068] |
Chr5:132642293 [GRCh38]
Chr5:131977985 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.896G>T (p.Gly299Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746053] |
Chr5:132587934 [GRCh38]
Chr5:131923626 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+15A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746054] |
Chr5:132609224 [GRCh38]
Chr5:131944916 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2011A>T (p.Thr671Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746066] |
Chr5:132595614 [GRCh38]
Chr5:131931306 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.720T>A (p.Ile240=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746068] |
Chr5:132580030 [GRCh38]
Chr5:131915722 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+20G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746169] |
Chr5:132638243 [GRCh38]
Chr5:131973935 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.45del (p.Phe15fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746173] |
Chr5:132557366 [GRCh38]
Chr5:131893058 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.552-20T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746176] |
Chr5:132579842 [GRCh38]
Chr5:131915534 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3479T>G (p.Ile1160Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746180] |
Chr5:132638084 [GRCh38]
Chr5:131973776 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2156T>G (p.Leu719Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746188] |
Chr5:132595759 [GRCh38]
Chr5:131931451 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3487A>C (p.Ile1163Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746189] |
Chr5:132638092 [GRCh38]
Chr5:131973784 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.827A>C (p.Asp276Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746261] |
Chr5:132587632 [GRCh38]
Chr5:131923324 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1305G>A (p.Lys435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746310] |
Chr5:132589690 [GRCh38]
Chr5:131925382 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.129+11A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746855] |
Chr5:132557464 [GRCh38]
Chr5:131893156 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3429_3432del (p.Asn1144fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746874] |
Chr5:132637151..132637154 [GRCh38]
Chr5:131972843..131972846 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1436_1437del (p.Gln479fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746805] |
Chr5:132589821..132589822 [GRCh38]
Chr5:131925513..131925514 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.365+15_365+16dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003746889] |
Chr5:132575942..132575943 [GRCh38]
Chr5:131911634..131911635 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3325A>G (p.Ile1109Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746893] |
Chr5:132618230 [GRCh38]
Chr5:131953922 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3220G>T (p.Ala1074Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746895] |
Chr5:132618125 [GRCh38]
Chr5:131953817 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2398-11_2398-7del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746908] |
Chr5:132603907..132603911 [GRCh38]
Chr5:131939599..131939603 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1793+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746992] |
Chr5:132592035 [GRCh38]
Chr5:131927727 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1426G>C (p.Glu476Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747025] |
Chr5:132589811 [GRCh38]
Chr5:131925503 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2958A>T (p.Gln986His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747033] |
Chr5:132609318 [GRCh38]
Chr5:131945010 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.722T>C (p.Val241Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747035] |
Chr5:132580032 [GRCh38]
Chr5:131915724 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3240T>C (p.Gly1080=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747113] |
Chr5:132618145 [GRCh38]
Chr5:131953837 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3691G>A (p.Asp1231Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747130] |
Chr5:132640744 [GRCh38]
Chr5:131976436 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3645G>A (p.Leu1215=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003865300] |
Chr5:132640698 [GRCh38]
Chr5:131976390 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.750A>T (p.Pro250=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747181] |
Chr5:132580060 [GRCh38]
Chr5:131915752 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1281A>G (p.Lys427=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747429] |
Chr5:132589666 [GRCh38]
Chr5:131925358 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1722A>G (p.Lys574=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746692] |
Chr5:132591963 [GRCh38]
Chr5:131927655 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3886T>C (p.Cys1296Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746695] |
Chr5:132642311 [GRCh38]
Chr5:131978003 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.365+13A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746758] |
Chr5:132575941 [GRCh38]
Chr5:131911633 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2677G>A (p.Glu893Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746801] |
Chr5:132604958 [GRCh38]
Chr5:131940650 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1239A>C (p.Gln413His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746782] |
Chr5:132588874 [GRCh38]
Chr5:131924566 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3545A>T (p.Tyr1182Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746810] |
Chr5:132638150 [GRCh38]
Chr5:131973842 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1052-16A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747510] |
Chr5:132588671 [GRCh38]
Chr5:131924363 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1819A>C (p.Asn607His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747537] |
Chr5:132594894 [GRCh38]
Chr5:131930586 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2339C>T (p.Pro780Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747538] |
Chr5:132603431 [GRCh38]
Chr5:131939123 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.631A>C (p.Lys211Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746867] |
Chr5:132579941 [GRCh38]
Chr5:131915633 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.729C>G (p.Ser243=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746878] |
Chr5:132580039 [GRCh38]
Chr5:131915731 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3673T>C (p.Cys1225Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747601] |
Chr5:132640726 [GRCh38]
Chr5:131976418 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1922A>C (p.Asp641Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746953] |
Chr5:132594997 [GRCh38]
Chr5:131930689 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.430C>A (p.Leu144Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746955] |
Chr5:132579381 [GRCh38]
Chr5:131915073 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.701T>A (p.Leu234Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746978] |
Chr5:132580011 [GRCh38]
Chr5:131915703 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1682A>T (p.Asp561Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747001] |
Chr5:132591923 [GRCh38]
Chr5:131927615 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.886-16T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747007] |
Chr5:132587908 [GRCh38]
Chr5:131923600 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.70del (p.Ile24fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747009] |
Chr5:132557392 [GRCh38]
Chr5:131893084 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3036+15C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747010] |
Chr5:132609411 [GRCh38]
Chr5:131945103 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2792A>G (p.Asn931Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747012] |
Chr5:132608688 [GRCh38]
Chr5:131944380 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1999del (p.Ser667fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747013] |
Chr5:132595602 [GRCh38]
Chr5:131931294 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1342G>A (p.Glu448Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747016] |
Chr5:132589727 [GRCh38]
Chr5:131925419 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.802C>A (p.Leu268Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747017] |
Chr5:132587607 [GRCh38]
Chr5:131923299 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.320A>G (p.Lys107Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747118] |
Chr5:132575883 [GRCh38]
Chr5:131911575 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3504T>G (p.Asp1168Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747159] |
Chr5:132638109 [GRCh38]
Chr5:131973801 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2463A>G (p.Leu821=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747176] |
Chr5:132603985 [GRCh38]
Chr5:131939677 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.552-9T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747209] |
Chr5:132579853 [GRCh38]
Chr5:131915545 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2718G>T (p.Lys906Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747210] |
Chr5:132604999 [GRCh38]
Chr5:131940691 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1457G>C (p.Arg486Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747215] |
Chr5:132591228 [GRCh38]
Chr5:131926920 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1931G>A (p.Arg644Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747227] |
Chr5:132595006 [GRCh38]
Chr5:131930698 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.4T>C (p.Ser2Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747251] |
Chr5:132557328 [GRCh38]
Chr5:131893020 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.129+14A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747151] |
Chr5:132557467 [GRCh38]
Chr5:131893159 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3225A>C (p.Leu1075Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747321] |
Chr5:132618130 [GRCh38]
Chr5:131953822 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.836A>G (p.Lys279Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747332] |
Chr5:132587641 [GRCh38]
Chr5:131923333 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1636G>C (p.Ala546Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747335] |
Chr5:132591877 [GRCh38]
Chr5:131927569 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2502G>A (p.Glu834=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747348] |
Chr5:132604024 [GRCh38]
Chr5:131939716 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.844A>G (p.Met282Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747349] |
Chr5:132587649 [GRCh38]
Chr5:131923341 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.644A>G (p.Gln215Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747351] |
Chr5:132579954 [GRCh38]
Chr5:131915646 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2999A>T (p.Asp1000Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747189] |
Chr5:132609359 [GRCh38]
Chr5:131945051 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.310C>A (p.Gln104Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747359] |
Chr5:132575873 [GRCh38]
Chr5:131911565 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1756G>T (p.Glu586Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747361] |
Chr5:132591997 [GRCh38]
Chr5:131927689 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.756+8G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747368] |
Chr5:132580074 [GRCh38]
Chr5:131915766 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3390-5T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747370] |
Chr5:132637110 [GRCh38]
Chr5:131972802 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1489G>T (p.Val497Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747371] |
Chr5:132591260 [GRCh38]
Chr5:131926952 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.166G>A (p.Asp56Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747372] |
Chr5:132559320 [GRCh38]
Chr5:131895012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.520C>A (p.Gln174Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747374] |
Chr5:132579471 [GRCh38]
Chr5:131915163 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.757-19A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747411] |
Chr5:132587543 [GRCh38]
Chr5:131923235 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2830-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747412] |
Chr5:132609112 [GRCh38]
Chr5:131944804 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.213+11T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747427] |
Chr5:132559378 [GRCh38]
Chr5:131895070 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1160del (p.Pro387fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003747428] |
Chr5:132588794 [GRCh38]
Chr5:131924486 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1629A>G (p.Lys543=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746039] |
Chr5:132591400 [GRCh38]
Chr5:131927092 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1929C>G (p.Asp643Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746099] |
Chr5:132595004 [GRCh38]
Chr5:131930696 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746100] |
Chr5:132595053 [GRCh38]
Chr5:131930745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.761G>C (p.Arg254Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746102] |
Chr5:132587566 [GRCh38]
Chr5:131923258 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3355A>C (p.Lys1119Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746103] |
Chr5:132618260 [GRCh38]
Chr5:131953952 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1211AAG[1] (p.Glu405del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003747677] |
Chr5:132588846..132588848 [GRCh38]
Chr5:131924538..131924540 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+20T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747635] |
Chr5:132609229 [GRCh38]
Chr5:131944921 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2149T>A (p.Ser717Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746117] |
Chr5:132595752 [GRCh38]
Chr5:131931444 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.853_854del (p.Lys284_Asp285insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746120] |
Chr5:132587657..132587658 [GRCh38]
Chr5:131923349..131923350 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3097G>A (p.Glu1033Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746125] |
Chr5:132616063 [GRCh38]
Chr5:131951755 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3784T>G (p.Phe1262Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746126] |
Chr5:132642209 [GRCh38]
Chr5:131977901 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.130-9T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746136] |
Chr5:132559275 [GRCh38]
Chr5:131894967 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.326C>T (p.Thr109Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746151] |
Chr5:132575889 [GRCh38]
Chr5:131911581 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1553T>A (p.Leu518Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746153] |
Chr5:132591324 [GRCh38]
Chr5:131927016 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1635+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746156] |
Chr5:132591407 [GRCh38]
Chr5:131927099 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1351A>T (p.Ser451Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746159] |
Chr5:132589736 [GRCh38]
Chr5:131925428 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3449T>A (p.Leu1150Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746160] |
Chr5:132637174 [GRCh38]
Chr5:131972866 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.280A>T (p.Ile94Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003747628] |
Chr5:132575843 [GRCh38]
Chr5:131911535 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.250C>T (p.Leu84=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746175] |
Chr5:132575813 [GRCh38]
Chr5:131911505 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1593T>G (p.His531Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746210] |
Chr5:132591364 [GRCh38]
Chr5:131927056 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051+7C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746211] |
Chr5:132588096 [GRCh38]
Chr5:131923788 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3476-9C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746235] |
Chr5:132638072 [GRCh38]
Chr5:131973764 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1794-3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746236] |
Chr5:132594866 [GRCh38]
Chr5:131930558 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3618+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746014] |
Chr5:132638228 [GRCh38]
Chr5:131973920 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.425G>T (p.Ser142Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746022] |
Chr5:132579376 [GRCh38]
Chr5:131915068 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1542dup (p.Asp515fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003746046] |
Chr5:132591312..132591313 [GRCh38]
Chr5:131927004..131927005 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2426T>C (p.Ile809Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746048] |
Chr5:132603948 [GRCh38]
Chr5:131939640 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3873_3875del (p.Lys1291del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003746302] |
Chr5:132642296..132642298 [GRCh38]
Chr5:131977988..131977990 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2524+7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746272] |
Chr5:132604053 [GRCh38]
Chr5:131939745 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.19A>G (p.Met7Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003746325] |
Chr5:132557343 [GRCh38]
Chr5:131893035 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3176A>T (p.Lys1059Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003862538] |
Chr5:132618081 [GRCh38]
Chr5:131953773 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+14A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003858154] |
Chr5:132579516 [GRCh38]
Chr5:131915208 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2398A>G (p.Met800Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003844263] |
Chr5:132603920 [GRCh38]
Chr5:131939612 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1939G>A (p.Glu647Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003822860] |
Chr5:132595014 [GRCh38]
Chr5:131930706 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1138T>C (p.Leu380=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003858752] |
Chr5:132588773 [GRCh38]
Chr5:131924465 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.443A>C (p.Lys148Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004445421] |
Chr5:132579394 [GRCh38]
Chr5:131915086 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del) |
deletion |
Nijmegen breakage syndrome-like disorder [RCV003988614] |
Chr5:132603458..132603466 [GRCh38]
Chr5:131939150..131939158 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3283C>A (p.Pro1095Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521663] |
Chr5:132618188 [GRCh38]
Chr5:131953880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3273A>G (p.Glu1091=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521662] |
Chr5:132618178 [GRCh38]
Chr5:131953870 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3175A>G (p.Lys1059Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521661] |
Chr5:132618080 [GRCh38]
Chr5:131953772 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3144G>A (p.Met1048Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521660] |
Chr5:132616110 [GRCh38]
Chr5:131951802 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.299T>C (p.Met100Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521658] |
Chr5:132575862 [GRCh38]
Chr5:131911554 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2728G>C (p.Glu910Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521657] |
Chr5:132608624 [GRCh38]
Chr5:131944316 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2554C>T (p.Leu852Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521654] |
Chr5:132604835 [GRCh38]
Chr5:131940527 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1438G>A (p.Glu480Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521629] |
Chr5:132589823 [GRCh38]
Chr5:131925515 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1682A>G (p.Asp561Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521635] |
Chr5:132591923 [GRCh38]
Chr5:131927615 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1752A>C (p.Ser584=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521637] |
Chr5:132591993 [GRCh38]
Chr5:131927685 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1783G>A (p.Ala595Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521638] |
Chr5:132592024 [GRCh38]
Chr5:131927716 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1817A>C (p.Gln606Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521640] |
Chr5:132594892 [GRCh38]
Chr5:131930584 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.209C>G (p.Pro70Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521647] |
Chr5:132559363 [GRCh38]
Chr5:131895055 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2472T>A (p.Thr824=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521653] |
Chr5:132603994 [GRCh38]
Chr5:131939686 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.717A>T (p.Glu239Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521681] |
Chr5:132580027 [GRCh38]
Chr5:131915719 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.806A>G (p.Asp269Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521683] |
Chr5:132587611 [GRCh38]
Chr5:131923303 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1300G>C (p.Asp434His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521627] |
Chr5:132589685 [GRCh38]
Chr5:131925377 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1652A>C (p.Gln551Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521634] |
Chr5:132591893 [GRCh38]
Chr5:131927585 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.183C>T (p.Thr61=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521641] |
Chr5:132559337 [GRCh38]
Chr5:131895029 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2146G>T (p.Glu716Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521648] |
Chr5:132595749 [GRCh38]
Chr5:131931441 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2447T>C (p.Leu816Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521651] |
Chr5:132603969 [GRCh38]
Chr5:131939661 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.497T>C (p.Leu166Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521678] |
Chr5:132579448 [GRCh38]
Chr5:131915140 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.576T>A (p.Leu192=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521679] |
Chr5:132579886 [GRCh38]
Chr5:131915578 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.683C>G (p.Thr228Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521680] |
Chr5:132579993 [GRCh38]
Chr5:131915685 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3748G>A (p.Val1250Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521675] |
Chr5:132640801 [GRCh38]
Chr5:131976493 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3723C>T (p.Asn1241=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521673] |
Chr5:132640776 [GRCh38]
Chr5:131976468 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3685G>T (p.Ala1229Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521672] |
Chr5:132640738 [GRCh38]
Chr5:131976430 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3665G>A (p.Cys1222Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521671] |
Chr5:132640718 [GRCh38]
Chr5:131976410 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.365+2T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521670] |
Chr5:132575930 [GRCh38]
Chr5:131911622 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.3540G>A (p.Arg1180=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521667] |
Chr5:132638145 [GRCh38]
Chr5:131973837 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3507C>G (p.Ala1169=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521666] |
Chr5:132638112 [GRCh38]
Chr5:131973804 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3409A>T (p.Ser1137Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521665] |
Chr5:132637134 [GRCh38]
Chr5:131972826 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.100T>G (p.Leu34Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521618] |
Chr5:132557424 [GRCh38]
Chr5:131893116 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1104T>C (p.Asp368=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521620] |
Chr5:132588739 [GRCh38]
Chr5:131924431 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.219T>A (p.Ala73=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521650] |
Chr5:132575782 [GRCh38]
Chr5:131911474 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3862A>G (p.Arg1288Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521677] |
Chr5:132642287 [GRCh38]
Chr5:131977979 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3646G>T (p.Ala1216Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521669] |
Chr5:132640699 [GRCh38]
Chr5:131976391 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3017A>G (p.Gln1006Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521659] |
Chr5:132609377 [GRCh38]
Chr5:131945069 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1055G>T (p.Arg352Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521619] |
Chr5:132588690 [GRCh38]
Chr5:131924382 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1120T>G (p.Leu374Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521621] |
Chr5:132588755 [GRCh38]
Chr5:131924447 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1137A>G (p.Glu379=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521622] |
Chr5:132588772 [GRCh38]
Chr5:131924464 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1154G>C (p.Arg385Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521623] |
Chr5:132588789 [GRCh38]
Chr5:131924481 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1157G>T (p.Gly386Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521624] |
Chr5:132588792 [GRCh38]
Chr5:131924484 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1172G>T (p.Arg391Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521625] |
Chr5:132588807 [GRCh38]
Chr5:131924499 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1557T>C (p.Arg519=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521631] |
Chr5:132591328 [GRCh38]
Chr5:131927020 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1581G>A (p.Gln527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521632] |
Chr5:132591352 [GRCh38]
Chr5:131927044 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.192T>A (p.Asn64Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004445420] |
Chr5:132559346 [GRCh38]
Chr5:131895038 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.386T>C (p.Leu129Pro) |
single nucleotide variant |
RAD50-related disorder [RCV003917177] |
Chr5:132579337 [GRCh38]
Chr5:131915029 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1375A>G (p.Asn459Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521628] |
Chr5:132589760 [GRCh38]
Chr5:131925452 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1509A>G (p.Glu503=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521630] |
Chr5:132591280 [GRCh38]
Chr5:131926972 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1845A>G (p.Leu615=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521642] |
Chr5:132594920 [GRCh38]
Chr5:131930612 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1863G>T (p.Gln621His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521643] |
Chr5:132594938 [GRCh38]
Chr5:131930630 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2016G>T (p.Gln672His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521646] |
Chr5:132595619 [GRCh38]
Chr5:131931311 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.379G>T (p.Val127Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521676] |
Chr5:132579330 [GRCh38]
Chr5:131915022 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1109T>C (p.Leu370Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004445419] |
Chr5:132588744 [GRCh38]
Chr5:131924436 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2688T>G (p.Thr896=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521656] |
Chr5:132604969 [GRCh38]
Chr5:131940661 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.778C>T (p.His260Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521682]|Nijmegen breakage syndrome-like disorder [RCV004573470] |
Chr5:132587583 [GRCh38]
Chr5:131923275 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1 |
copy number loss |
not provided [RCV004577463] |
Chr5:124864529..134720575 [GRCh37]
Chr5:5q23.2-31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1910A>G (p.Asp637Gly) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV004574666] |
Chr5:132594985 [GRCh38]
Chr5:131930677 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1051G>A (p.Gly351Ser) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV004574668] |
Chr5:132588089 [GRCh38]
Chr5:131923781 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1683T>G (p.Asp561Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665147] |
Chr5:132591924 [GRCh38]
Chr5:131927616 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2615C>G (p.Ser872Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665157] |
Chr5:132604896 [GRCh38]
Chr5:131940588 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131893017)_(131976507_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004578925] |
Chr5:131893017..131976507 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NC_000005.9:g.(?_131944789)_(131945108_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004578926] |
Chr5:131944789..131945108 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131923234)_(131925549_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004578928] |
Chr5:131923234..131925549 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131976354)_(131978056_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004578927] |
Chr5:131976354..131978056 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.2021C>T (p.Thr674Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665133] |
Chr5:132595624 [GRCh38]
Chr5:131931316 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1863G>A (p.Gln621=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665138] |
Chr5:132594938 [GRCh38]
Chr5:131930630 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.714G>A (p.Lys238=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665135] |
Chr5:132580024 [GRCh38]
Chr5:131915716 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.460G>A (p.Val154Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665151] |
Chr5:132579411 [GRCh38]
Chr5:131915103 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3663C>G (p.Phe1221Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665154] |
Chr5:132640716 [GRCh38]
Chr5:131976408 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.240C>G (p.Ala80=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665156] |
Chr5:132575803 [GRCh38]
Chr5:131911495 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.624G>T (p.Met208Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665161] |
Chr5:132579934 [GRCh38]
Chr5:131915626 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1508A>C (p.Glu503Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665166] |
Chr5:132591279 [GRCh38]
Chr5:131926971 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NC_000005.9:g.(?_131972797)_(131973925_?)dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV004578929] |
Chr5:131972797..131973925 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NC_000005.9:g.(?_131931449)_(131934832_?)del |
deletion |
Hereditary cancer-predisposing syndrome [RCV004578930] |
Chr5:131931449..131934832 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1267A>G (p.Thr423Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669459] |
Chr5:132589652 [GRCh38]
Chr5:131925344 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1446A>G (p.Ile482Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669460] |
Chr5:132589831 [GRCh38]
Chr5:131925523 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2160A>T (p.Lys720Asn) |
single nucleotide variant |
Nijmegen breakage syndrome-like disorder [RCV004574667] |
Chr5:132595763 [GRCh38]
Chr5:131931455 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3186G>C (p.Glu1062Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665134] |
Chr5:132618091 [GRCh38]
Chr5:131953783 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.179G>C (p.Gly60Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665141] |
Chr5:132559333 [GRCh38]
Chr5:131895025 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.437T>A (p.Val146Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665144] |
Chr5:132579388 [GRCh38]
Chr5:131915080 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3196A>G (p.Asn1066Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665162] |
Chr5:132618101 [GRCh38]
Chr5:131953793 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1529A>G (p.Glu510Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665140] |
Chr5:132591300 [GRCh38]
Chr5:131926992 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2943_2946del (p.Asn981fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004665142] |
Chr5:132609301..132609304 [GRCh38]
Chr5:131944993..131944996 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.603G>C (p.Gln201His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665145] |
Chr5:132579913 [GRCh38]
Chr5:131915605 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3424G>A (p.Glu1142Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665152] |
Chr5:132637149 [GRCh38]
Chr5:131972841 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1257A>C (p.Ala419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665159] |
Chr5:132589642 [GRCh38]
Chr5:131925334 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2251A>G (p.Arg751Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665160] |
Chr5:132603343 [GRCh38]
Chr5:131939035 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1503A>C (p.Lys501Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669451] |
Chr5:132591274 [GRCh38]
Chr5:131926966 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1903A>G (p.Ser635Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669452] |
Chr5:132594978 [GRCh38]
Chr5:131930670 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1086A>G (p.Glu362=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669453] |
Chr5:132588721 [GRCh38]
Chr5:131924413 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1991del (p.Ala664fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004669454] |
Chr5:132595594 [GRCh38]
Chr5:131931286 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.3458G>C (p.Ser1153Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665136] |
Chr5:132637183 [GRCh38]
Chr5:131972875 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3293G>C (p.Arg1098Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665146] |
Chr5:132618198 [GRCh38]
Chr5:131953890 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2125C>G (p.Pro709Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665149] |
Chr5:132595728 [GRCh38]
Chr5:131931420 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2460C>T (p.Asp820=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665153] |
Chr5:132603982 [GRCh38]
Chr5:131939674 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1684G>A (p.Glu562Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665164] |
Chr5:132591925 [GRCh38]
Chr5:131927617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1969+2dup |
duplication |
Familial cancer of breast [RCV004598327] |
Chr5:132595045..132595046 [GRCh38]
Chr5:131930737..131930738 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.243G>A (p.Gln81=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669456] |
Chr5:132575806 [GRCh38]
Chr5:131911498 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1944A>G (p.Glu648=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669458] |
Chr5:132595019 [GRCh38]
Chr5:131930711 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2713A>T (p.Ile905Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669461] |
Chr5:132604994 [GRCh38]
Chr5:131940686 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.981T>G (p.Arg327=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669462] |
Chr5:132588019 [GRCh38]
Chr5:131923711 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3274C>G (p.Leu1092Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669463] |
Chr5:132618179 [GRCh38]
Chr5:131953871 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3109G>C (p.Glu1037Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669464] |
Chr5:132616075 [GRCh38]
Chr5:131951767 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.947G>C (p.Arg316Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669465] |
Chr5:132587985 [GRCh38]
Chr5:131923677 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2192G>A (p.Gly731Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004669466] |
Chr5:132595795 [GRCh38]
Chr5:131931487 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2762del (p.Lys921fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004665126] |
Chr5:132608655 [GRCh38]
Chr5:131944347 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.2347G>C (p.Glu783Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665139] |
Chr5:132603439 [GRCh38]
Chr5:131939131 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.483T>C (p.Asp161=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665143] |
Chr5:132579434 [GRCh38]
Chr5:131915126 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1779A>G (p.Arg593=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004665150] |
Chr5:132592020 [GRCh38]
Chr5:131927712 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.769G>A (p.Glu257Lys) |
single nucleotide variant |
not provided [RCV004774188] |
Chr5:132587574 [GRCh38]
Chr5:131923266 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1108T>C (p.Leu370=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947271] |
Chr5:132588743 [GRCh38]
Chr5:131924435 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.715G>A (p.Glu239Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947295] |
Chr5:132580025 [GRCh38]
Chr5:131915717 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2542T>C (p.Leu848=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947291] |
Chr5:132604823 [GRCh38]
Chr5:131940515 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3091C>T (p.Leu1031=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947289] |
Chr5:132616057 [GRCh38]
Chr5:131951749 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1776C>A (p.Asp592Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947283] |
Chr5:132592017 [GRCh38]
Chr5:131927709 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.466T>A (p.Phe156Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947282] |
Chr5:132579417 [GRCh38]
Chr5:131915109 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1793+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943573] |
Chr5:132592036 [GRCh38]
Chr5:131927728 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1701G>C (p.Leu567Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943579] |
Chr5:132591942 [GRCh38]
Chr5:131927634 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1815G>A (p.Glu605=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943580] |
Chr5:132594890 [GRCh38]
Chr5:131930582 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.1642A>G (p.Lys548Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943581] |
Chr5:132591883 [GRCh38]
Chr5:131927575 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2089G>A (p.Val697Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943583] |
Chr5:132595692 [GRCh38]
Chr5:131931384 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3722_3725dup (p.Glu1243fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV004943587] |
Chr5:132640774..132640775 [GRCh38]
Chr5:131976466..131976467 [GRCh37]
Chr5:5q31.1 |
likely pathogenic |
| NM_005732.4(RAD50):c.1765C>G (p.Gln589Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943588] |
Chr5:132592006 [GRCh38]
Chr5:131927698 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1850G>T (p.Arg617Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943600] |
Chr5:132594925 [GRCh38]
Chr5:131930617 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1359G>T (p.Lys453Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943603] |
Chr5:132589744 [GRCh38]
Chr5:131925436 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2240T>C (p.Ile747Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943606] |
Chr5:132603332 [GRCh38]
Chr5:131939024 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1574T>C (p.Met525Thr) |
single nucleotide variant |
not provided [RCV004998046] |
Chr5:132591345 [GRCh38]
Chr5:131927037 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.286G>A (p.Val96Met) |
single nucleotide variant |
not provided [RCV004998047] |
Chr5:132575849 [GRCh38]
Chr5:131911541 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3871_3875dup (p.Asn1292fs) |
duplication |
Nijmegen breakage syndrome-like disorder [RCV005033272] |
Chr5:132642293..132642294 [GRCh38]
Chr5:131977985..131977986 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.155T>C (p.Ile52Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943575]|not provided [RCV005000595] |
Chr5:132559309 [GRCh38]
Chr5:131895001 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3033G>A (p.Gln1011=) |
single nucleotide variant |
not provided [RCV004998049] |
Chr5:132609393 [GRCh38]
Chr5:131945085 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3246A>T (p.Glu1082Asp) |
single nucleotide variant |
not provided [RCV004998050] |
Chr5:132618151 [GRCh38]
Chr5:131953843 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2901T>C (p.Asp967=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947274] |
Chr5:132609188 [GRCh38]
Chr5:131944880 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3534A>G (p.Lys1178=) |
single nucleotide variant |
not provided [RCV004998051] |
Chr5:132638139 [GRCh38]
Chr5:131973831 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2900A>T (p.Asp967Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947296] |
Chr5:132609187 [GRCh38]
Chr5:131944879 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3680T>A (p.Ile1227Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947293] |
Chr5:132640733 [GRCh38]
Chr5:131976425 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.931C>A (p.His311Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947288] |
Chr5:132587969 [GRCh38]
Chr5:131923661 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1169A>G (p.Glu390Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947286] |
Chr5:132588804 [GRCh38]
Chr5:131924496 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1310del (p.Thr437fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004947281] |
Chr5:132589695 [GRCh38]
Chr5:131925387 [GRCh37]
Chr5:5q31.1 |
pathogenic |
| NM_005732.4(RAD50):c.1794C>A (p.Asn598Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947280] |
Chr5:132594869 [GRCh38]
Chr5:131930561 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1328T>G (p.Ile443Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947273] |
Chr5:132589713 [GRCh38]
Chr5:131925405 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2252G>C (p.Arg751Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947292] |
Chr5:132603344 [GRCh38]
Chr5:131939036 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3751G>A (p.Glu1251Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943576] |
Chr5:132640804 [GRCh38]
Chr5:131976496 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2601A>C (p.Thr867=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943578] |
Chr5:132604882 [GRCh38]
Chr5:131940574 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3757A>C (p.Ile1253Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943582] |
Chr5:132642182 [GRCh38]
Chr5:131977874 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2594G>C (p.Ser865Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943585] |
Chr5:132604875 [GRCh38]
Chr5:131940567 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2299G>C (p.Asp767His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943591] |
Chr5:132603391 [GRCh38]
Chr5:131939083 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.193A>C (p.Thr65Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943592] |
Chr5:132559347 [GRCh38]
Chr5:131895039 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1042G>C (p.Val348Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943594] |
Chr5:132588080 [GRCh38]
Chr5:131923772 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3831A>G (p.Leu1277=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943602] |
Chr5:132642256 [GRCh38]
Chr5:131977948 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2991A>G (p.Ile997Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943604] |
Chr5:132609351 [GRCh38]
Chr5:131945043 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2728G>A (p.Glu910Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943599] |
Chr5:132608624 [GRCh38]
Chr5:131944316 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2922+7T>A |
single nucleotide variant |
not provided [RCV004998052] |
Chr5:132609216 [GRCh38]
Chr5:131944908 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.-5C>T |
single nucleotide variant |
not provided [RCV004998053] |
Chr5:132557320 [GRCh38]
Chr5:131893012 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.551+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943593] |
Chr5:132579503 [GRCh38]
Chr5:131915195 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2367G>T (p.Leu789=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943597] |
Chr5:132603459 [GRCh38]
Chr5:131939151 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2220T>C (p.Ile740=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943601] |
Chr5:132603312 [GRCh38]
Chr5:131939004 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2848_2850del (p.Lys950del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV004947272] |
Chr5:132609133..132609135 [GRCh38]
Chr5:131944825..131944827 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.485C>A (p.Ser162Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943589] |
Chr5:132579436 [GRCh38]
Chr5:131915128 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1425T>C (p.Leu475=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943596] |
Chr5:132589810 [GRCh38]
Chr5:131925502 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2371G>C (p.Asp791His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947294] |
Chr5:132603463 [GRCh38]
Chr5:131939155 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3463T>C (p.Tyr1155His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947287] |
Chr5:132637188 [GRCh38]
Chr5:131972880 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1191C>A (p.His397Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947279] |
Chr5:132588826 [GRCh38]
Chr5:131924518 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1097C>T (p.Ala366Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947278] |
Chr5:132588732 [GRCh38]
Chr5:131924424 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1420A>G (p.Ile474Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943572] |
Chr5:132589805 [GRCh38]
Chr5:131925497 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1236C>T (p.Asn412=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943574] |
Chr5:132588871 [GRCh38]
Chr5:131924563 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.3095A>C (p.Lys1032Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947276] |
Chr5:132616061 [GRCh38]
Chr5:131951753 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2631A>G (p.Ile877Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943577] |
Chr5:132604912 [GRCh38]
Chr5:131940604 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2064T>C (p.Phe688=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943584] |
Chr5:132595667 [GRCh38]
Chr5:131931359 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.223G>C (p.Glu75Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943586] |
Chr5:132575786 [GRCh38]
Chr5:131911478 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2710G>C (p.Glu904Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943590] |
Chr5:132604991 [GRCh38]
Chr5:131940683 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.52G>C (p.Glu18Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943595] |
Chr5:132557376 [GRCh38]
Chr5:131893068 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3196A>T (p.Asn1066Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943598] |
Chr5:132618101 [GRCh38]
Chr5:131953793 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.276A>C (p.Glu92Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004943605] |
Chr5:132575839 [GRCh38]
Chr5:131911531 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1795A>G (p.Lys599Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947290] |
Chr5:132594870 [GRCh38]
Chr5:131930562 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2426T>G (p.Ile809Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947285] |
Chr5:132603948 [GRCh38]
Chr5:131939640 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3640C>G (p.Arg1214Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947277] |
Chr5:132640693 [GRCh38]
Chr5:131976385 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1816C>A (p.Gln606Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947275] |
Chr5:132594891 [GRCh38]
Chr5:131930583 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.2626C>G (p.Gln876Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004947284] |
Chr5:132604907 [GRCh38]
Chr5:131940599 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3131A>G (p.Glu1044Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358274] |
Chr5:132616097 [GRCh38]
Chr5:131951789 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1406G>A (p.Gly469Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341705] |
Chr5:132589791 [GRCh38]
Chr5:131925483 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1290T>C (p.Asp430=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341707] |
Chr5:132589675 [GRCh38]
Chr5:131925367 [GRCh37]
Chr5:5q31.1 |
likely benign |
| NM_005732.4(RAD50):c.2152G>A (p.Glu718Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341711] |
Chr5:132595755 [GRCh38]
Chr5:131931447 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.1571A>G (p.Glu524Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341704] |
Chr5:132591342 [GRCh38]
Chr5:131927034 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3672C>A (p.Asn1224Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341708] |
Chr5:132640725 [GRCh38]
Chr5:131976417 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
| NM_005732.4(RAD50):c.3408C>G (p.His1136Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358273] |
Chr5:132637133 [GRCh38]
Chr5:131972825 [GRCh37]
Chr5:5q31.1 |
uncertain significance |
