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# | Reference Title | Reference Citation |
1. | Chk2 tumour suppressor protein in human spermatogenesis and testicular germ-cell tumours. | Bartkova J, etal., Oncogene. 2001 Sep 13;20(41):5897-902. |
2. | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. | Cybulski C, etal., J Med Genet. 2006 Nov;43(11):863-6. |
3. | Mutations in CHEK2 associated with prostate cancer risk. | Dong X, etal., Am J Hum Genet 2003 Feb;72(2):270-80. Epub 2003 Jan 17. |
4. | Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. | Einarsdottir K, etal., Hum Mol Genet. 2007 Jan 15;16(2):154-64. Epub 2006 Dec 12. |
5. | BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. | Falchetti M, etal., Breast Cancer Res Treat. 2007 Jul 28;. |
6. | Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. | Girard E, etal., Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13. |
7. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
8. | Modes of p53 regulation. | Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050. |
9. | Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. | Laitman Y, etal., Isr Med Assoc J. 2007 Nov;9(11):791-6. |
10. | The complexity of p53 stabilization and activation. | Lavin MF and Gueven N, Cell Death Differ. 2006 Jun;13(6):941-50. |
11. | Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. | Meijers-Heijboer H, etal., Nat Genet. 2002 May;31(1):55-9. Epub 2002 Apr 22. |
12. | Telomere attrition and Chk2 activation in human heart failure. | Oh H, etal., Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5378-83. Epub 2003 Apr 17. |
13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
14. | Paeonia lactiflora Pall inhibits bladder cancer growth involving phosphorylation of Chk2 in vitro and in vivo. | Ou TT, etal., J Ethnopharmacol. 2011 Apr 26;135(1):162-72. doi: 10.1016/j.jep.2011.03.011. Epub 2011 Mar 17. |
15. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
16. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
17. | Analysis of CHK2 in vulval neoplasia. | Reddy A, etal., Br J Cancer. 2002 Mar 4;86(5):756-60. |
18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
20. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
21. | CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. | Szymanska-Pasternak J, etal., Gynecol Oncol. 2006 Sep;102(3):429-31. Epub 2006 Jul 10. |
22. | Premature cardiac senescence in DahlS.Z-Lepr(fa)/Lepr(fa) rats as a new animal model of metabolic syndrome. | Takahashi K, etal., Nagoya J Med Sci. 2014 Feb;76(1-2):35-49. |
23. | Cellular distribution of cell cycle-related molecules in the renal tubules of rats treated with renal carcinogens for 28 days: relationship between cell cycle aberration and carcinogenesis. | Taniai E, etal., Arch Toxicol. 2012 Sep;86(9):1453-64. doi: 10.1007/s00204-012-0829-z. Epub 2012 Mar 13. |
24. | Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers. | Williams LH, etal., Clin Cancer Res. 2006 Dec 1;12(23):6967-72. |
25. | Changes in gene expression induced by chemoradiation in advanced cervical carcinoma: a microarray study of RTOG C-0128. | Zempolich K, etal., Gynecol Oncol. 2008 May;109(2):275-9. Epub 2008 Mar 4. |
26. | Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer. | Zlowocka E, etal., Int J Cancer. 2008 Feb 1;122(3):583-6. |
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CHEK2 (Homo sapiens - human) |
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Chek2 (Mus musculus - house mouse) |
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Chek2 (Rattus norvegicus - Norway rat) |
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Chek2 (Chinchilla lanigera - long-tailed chinchilla) |
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CHEK2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CHEK2 (Canis lupus familiaris - dog) |
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Chek2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CHEK2 (Sus scrofa - pig) |
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CHEK2 (Chlorocebus sabaeus - green monkey) |
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Chek2 (Heterocephalus glaber - naked mole-rat) |
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Variants in CHEK2
3859 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg) | single nucleotide variant | Familial cancer of breast [RCV000687272]|Hereditary cancer-predisposing syndrome [RCV000561314] | Chr22:28725043 [GRCh38] Chr22:29121031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) | microsatellite | CHEK2-related cancer predisposition [RCV005357563]|Familial cancer of breast [RCV000549448]|Hereditary cancer-predisposing syndrome [RCV000568941]|Malignant tumor of breast [RCV001356374] | Chr22:28734499..28734503 [GRCh38] Chr22:29130487..29130491 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.534A>G (p.Gly178=) | single nucleotide variant | Familial cancer of breast [RCV000636016]|Hereditary cancer-predisposing syndrome [RCV000563310] | Chr22:28725035 [GRCh38] Chr22:29121023 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.974del (p.Lys325fs) | deletion | Familial cancer of breast [RCV003607304]|Hereditary cancer-predisposing syndrome [RCV000563323] | Chr22:28699872 [GRCh38] Chr22:29095860 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.866A>T (p.Lys289Ile) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027667]|Hereditary cancer-predisposing syndrome [RCV000565052] | Chr22:28703547 [GRCh38] Chr22:29099535 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys) | single nucleotide variant | Familial cancer of breast [RCV001066693]|Hereditary cancer-predisposing syndrome [RCV000565060]|Malignant tumor of breast [RCV001357483]|not provided [RCV000589429] | Chr22:28725107 [GRCh38] Chr22:29121095 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414506]|Familial cancer of breast [RCV000549012]|Hereditary cancer-predisposing syndrome [RCV002395340] | Chr22:28694093 [GRCh38] Chr22:29090081 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.793-4A>G | single nucleotide variant | Familial cancer of breast [RCV001403242]|Hereditary cancer-predisposing syndrome [RCV002420404] | Chr22:28710063 [GRCh38] Chr22:29106051 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) | single nucleotide variant | Familial cancer of breast [RCV001851498]|Hereditary cancer-predisposing syndrome [RCV000571653]|not provided [RCV000518920] | Chr22:28703561 [GRCh38] Chr22:29099549 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.414A>G (p.Thr138=) | single nucleotide variant | Familial cancer of breast [RCV001494420]|Hereditary cancer-predisposing syndrome [RCV000565115] | Chr22:28725273 [GRCh38] Chr22:29121261 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.315T>A (p.Asn105Lys) | single nucleotide variant | Familial cancer of breast [RCV000556591]|Hereditary cancer-predisposing syndrome [RCV000572483] | Chr22:28734407 [GRCh38] Chr22:29130395 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr) | single nucleotide variant | Familial cancer of breast [RCV000550776]|Hereditary cancer-predisposing syndrome [RCV001024321]|not provided [RCV001584260]|not specified [RCV003320472] | Chr22:28725009 [GRCh38] Chr22:29120997 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259+2del | deletion | Familial cancer of breast [RCV000551387] | Chr22:28695708 [GRCh38] Chr22:29091696 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu) | single nucleotide variant | Familial cancer of breast [RCV003607307]|Hereditary cancer-predisposing syndrome [RCV000561717]|not provided [RCV003325494] | Chr22:28725112 [GRCh38] Chr22:29121100 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563898] | Chr22:28724979 [GRCh38] Chr22:29120967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.338A>C (p.Tyr113Ser) | single nucleotide variant | Familial cancer of breast [RCV001235734]|Hereditary cancer-predisposing syndrome [RCV000565272] | Chr22:28725349 [GRCh38] Chr22:29121337 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.386T>C (p.Leu129Pro) | single nucleotide variant | Familial cancer of breast [RCV003607306]|Hereditary cancer-predisposing syndrome [RCV000561899] | Chr22:28725301 [GRCh38] Chr22:29121289 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.661A>C (p.Ile221Leu) | single nucleotide variant | Familial cancer of breast [RCV000553824] | Chr22:28719417 [GRCh38] Chr22:29115405 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) | single nucleotide variant | CHEK2-related disorder [RCV004527628]|Familial cancer of breast [RCV000524869]|Hereditary cancer-predisposing syndrome [RCV000580881]|not provided [RCV000523765] | Chr22:28694087 [GRCh38] Chr22:29090075 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) | single nucleotide variant | Familial cancer of breast [RCV000635826]|Hereditary cancer-predisposing syndrome [RCV000567765]|not provided [RCV003114694] | Chr22:28710029 [GRCh38] Chr22:29106017 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=) | single nucleotide variant | Familial cancer of breast [RCV000557281] | Chr22:28695769 [GRCh38] Chr22:29091757 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.957G>A (p.Leu319=) | single nucleotide variant | Familial cancer of breast [RCV003500557]|Hereditary cancer-predisposing syndrome [RCV000562233] | Chr22:28699889 [GRCh38] Chr22:29095877 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.728G>A (p.Cys243Tyr) | single nucleotide variant | Familial cancer of breast [RCV000559854] | Chr22:28711973 [GRCh38] Chr22:29107961 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.307T>A (p.Phe103Ile) | single nucleotide variant | Familial cancer of breast [RCV005091346]|Hereditary cancer-predisposing syndrome [RCV000562510] | Chr22:28734415 [GRCh38] Chr22:29130403 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+3A>G | single nucleotide variant | Familial cancer of breast [RCV000814139]|Hereditary cancer-predisposing syndrome [RCV000564553]|not provided [RCV003237932] | Chr22:28710003 [GRCh38] Chr22:29105991 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=) | single nucleotide variant | Familial cancer of breast [RCV000544612]|Hereditary cancer-predisposing syndrome [RCV000567762]|not provided [RCV001653893] | Chr22:28696931 [GRCh38] Chr22:29092919 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492088]|Familial cancer of breast [RCV002525145]|Hereditary cancer-predisposing syndrome [RCV000777176]|not provided [RCV000521044] | Chr22:28699846 [GRCh38] Chr22:29095834 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala) | single nucleotide variant | Familial cancer of breast [RCV001060488]|Hereditary breast ovarian cancer syndrome [RCV004764789]|Hereditary cancer-predisposing syndrome [RCV000563108]|not provided [RCV002060394] | Chr22:28725045 [GRCh38] Chr22:29121033 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp) | single nucleotide variant | Familial cancer of breast [RCV000635861]|Hereditary cancer-predisposing syndrome [RCV000567773] | Chr22:28725117 [GRCh38] Chr22:29121105 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.280G>T (p.Ala94Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568091] | Chr22:28734442 [GRCh38] Chr22:29130430 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.991A>G (p.Met331Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357685]|Familial cancer of breast [RCV003607321]|Hereditary cancer-predisposing syndrome [RCV000568243] | Chr22:28699855 [GRCh38] Chr22:29095843 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259+5G>A | single nucleotide variant | Familial cancer of breast [RCV001316769]|Hereditary cancer-predisposing syndrome [RCV000564314] | Chr22:28695705 [GRCh38] Chr22:29091693 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=) | single nucleotide variant | Familial cancer of breast [RCV001448847]|Hereditary cancer-predisposing syndrome [RCV000566533] | Chr22:28695230 [GRCh38] Chr22:29091218 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys) | single nucleotide variant | Familial cancer of breast [RCV000549784]|Hereditary cancer-predisposing syndrome [RCV004609430]|not provided [RCV003159130] | Chr22:28694048 [GRCh38] Chr22:29090036 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.84C>T (p.Ser28=) | single nucleotide variant | Familial cancer of breast [RCV000550252]|Hereditary cancer-predisposing syndrome [RCV001017920] | Chr22:28734638 [GRCh38] Chr22:29130626 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.366del (p.Glu122fs) | deletion | Familial cancer of breast [RCV000550472]|Hereditary cancer-predisposing syndrome [RCV001524435] | Chr22:28725321 [GRCh38] Chr22:29121309 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.624T>A (p.Asp208Glu) | single nucleotide variant | Familial cancer of breast [RCV000552930] | Chr22:28719454 [GRCh38] Chr22:29115442 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) | deletion | Familial cancer of breast [RCV000553258] | Chr22:28695203..28695204 [GRCh38] Chr22:29091191..29091192 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003991030]|Familial cancer of breast [RCV000554013]|Hereditary cancer-predisposing syndrome [RCV001805157] | Chr22:28695187 [GRCh38] Chr22:29091175 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1008+1G>T | single nucleotide variant | Familial cancer of breast [RCV000556065]|Hereditary cancer-predisposing syndrome [RCV000570557] | Chr22:28699837 [GRCh38] Chr22:29095825 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1368del (p.Glu457fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000567283] | Chr22:28695134 [GRCh38] Chr22:29091122 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28687891)_(28696993_?)del | deletion | Familial cancer of breast [RCV000529833] | Chr22:28687891..28696993 [GRCh38] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1387G>T (p.Val463Phe) | single nucleotide variant | Familial cancer of breast [RCV000560471] | Chr22:28694106 [GRCh38] Chr22:29090094 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) | single nucleotide variant | Familial cancer of breast [RCV000700074]|Hereditary cancer-predisposing syndrome [RCV000565297] | Chr22:28725040 [GRCh38] Chr22:29121028 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1374A>C (p.Lys458Asn) | single nucleotide variant | Familial cancer of breast [RCV003607305]|Hereditary cancer-predisposing syndrome [RCV000565418]|not provided [RCV004760601] | Chr22:28695128 [GRCh38] Chr22:29091116 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.685_686delinsAT (p.Gly229Ile) | indel | Hereditary cancer-predisposing syndrome [RCV000568979] | Chr22:28712015..28712016 [GRCh38] Chr22:29108003..29108004 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+5G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV004776439]|Familial cancer of breast [RCV001221575]|Hereditary cancer-predisposing syndrome [RCV000562595] | Chr22:28703500 [GRCh38] Chr22:29099488 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu) | single nucleotide variant | Familial cancer of breast [RCV000813192]|Hereditary cancer-predisposing syndrome [RCV000562986]|not provided [RCV004760612] | Chr22:28734453 [GRCh38] Chr22:29130441 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.563A>G (p.Glu188Gly) | single nucleotide variant | Familial cancer of breast [RCV000527060]|Hereditary cancer-predisposing syndrome [RCV000562997] | Chr22:28725006 [GRCh38] Chr22:29120994 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.87A>G (p.Gln29=) | single nucleotide variant | Familial cancer of breast [RCV000978906]|Hereditary cancer-predisposing syndrome [RCV000567579] | Chr22:28734635 [GRCh38] Chr22:29130623 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1098T>G (p.Ile366Met) | single nucleotide variant | Familial cancer of breast [RCV000819093]|Hereditary cancer-predisposing syndrome [RCV000569158] | Chr22:28695871 [GRCh38] Chr22:29091859 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) | single nucleotide variant | Familial cancer of breast [RCV000692487]|Hereditary cancer-predisposing syndrome [RCV000563374]|Hereditary nonpolyposis colon cancer [RCV005367420]|not provided [RCV002259352] | Chr22:28687941 [GRCh38] Chr22:29083929 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
CHEK2, 1-BP DEL, 1100C | deletion | Li-Fraumeni syndrome 2 [RCV000005932]|Breast cancer, susceptibility to [RCV000005933]|Prostate cancer, susceptibility to [RCV000005934]|Breast and colorectal cancer, susceptibility to [RCV000005935] | Chr22:22q12.1 | pathogenic|risk factor |
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210131]|Breast and/or ovarian cancer [RCV001797993]|CHEK2-related cancer predisposition [RCV000005936]|CHEK2-related cancer predisposition [RCV005025010]|CHEK2-related disorder [RCV004528085]|Familial cancer of breast [RCV000144596]|Familial cancer of breast [RCV005406726]|Familial cancer of breast [RCV005406727]|Gastrointestinal carcinoma [RCV000626718]|Hereditary cancer-predisposing syndrome [RCV000116018]|Malignant tumor of breast [RCV001358111]|Predisposition to cancer [RCV002254675]|Prostate cancer [RCV003447470]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL [RCV003333685]|not provided [RCV000212410]|not specified [RCV000120555] | Chr22:28725099 [GRCh38] Chr22:28725099..28725100 [GRCh38] Chr22:29121087 [GRCh37] Chr22:29121087..29121088 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|risk factor|established risk allele|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149565]|CHEK2-related cancer predisposition [RCV000005940]|Familial cancer of breast [RCV000197612]|Gastric cancer [RCV003162212]|Hereditary cancer-predisposing syndrome [RCV000116016]|Li-Fraumeni syndrome 1 [RCV003224854]|Li-Fraumeni syndrome [RCV000587420]|Malignant tumor of breast [RCV001358124]|not provided [RCV000505730]|not specified [RCV000120554] | Chr22:28725254 [GRCh38] Chr22:29121242 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_007194.4(CHEK2):c.1425del (p.Phe475fs) | deletion | CHEK2-related cancer predisposition [RCV000005941]|Hereditary cancer-predisposing syndrome [RCV002390093] | Chr22:28694068 [GRCh38] Chr22:29090056 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) | single nucleotide variant | Bone osteosarcoma [RCV000005942]|Breast and/or ovarian cancer [RCV001797994]|Familial cancer of breast [RCV000196893]|Hereditary breast ovarian cancer syndrome [RCV002225260]|Hereditary cancer-predisposing syndrome [RCV000132520]|Malignant tumor of breast [RCV001355309]|not provided [RCV000513573]|not specified [RCV000120551] | Chr22:28734468 [GRCh38] Chr22:29130456 [GRCh37] Chr22:22q12.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other|not provided |
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) | single nucleotide variant | Bone osteosarcoma [RCV000005943] | Chr22:28734673 [GRCh38] Chr22:29130661 [GRCh37] Chr22:22q12.1 |
pathogenic|other |
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) | single nucleotide variant | Familial cancer of breast [RCV000206384]|Hereditary breast ovarian cancer syndrome [RCV004760321]|Hereditary cancer-predisposing syndrome [RCV000116025]|Malignant tumor of breast [RCV001354132]|Prostate cancer [RCV003333686]|not provided [RCV000212427]|not specified [RCV000780186] | Chr22:28725030 [GRCh38] Chr22:29121018 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357082]|CHEK2-related disorder [RCV004737137]|Familial cancer of breast [RCV000196466]|Hereditary breast ovarian cancer syndrome [RCV005089184]|Hereditary cancer-predisposing syndrome [RCV000164479]|Prostate cancer, somatic [RCV000005945]|not provided [RCV000216866]|not specified [RCV001193084] | Chr22:28725028 [GRCh38] Chr22:29121016 [GRCh37] Chr22:22q12.1 |
pathogenic|benign|uncertain significance|other |
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) | single nucleotide variant | Colorectal cancer [RCV002288467]|Familial cancer of breast [RCV000635628]|Hereditary cancer-predisposing syndrome [RCV000166320]|Prostate cancer [RCV003333688]|not provided [RCV000657605] | Chr22:28711986 [GRCh38] Chr22:29107974 [GRCh37] Chr22:22q12.1 |
pathogenic|other |
nsv513775 | deletion | TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003333690] | Chr22:22q12.1 | pathogenic|risk factor |
CHEK2, IVS2DS, G-A, +1 | single nucleotide variant | Cancer of multiple types, susceptibility to [RCV000005952]|Prostate cancer, susceptibility to [RCV000005951] | Chr22:22q12.1 | risk factor |
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210180]|Breast and/or ovarian cancer [RCV003492287]|Breast cancer, susceptibility to [RCV000005953]|Breast neoplasm [RCV000388223]|CHEK2-related cancer predisposition [RCV005025012]|CHEK2-related cancer predisposition [RCV005414444]|CHEK2-related cancer risk [RCV001449813]|CHEK2-related disorder [RCV004532295]|Familial cancer of breast [RCV000197718]|Familial cancer of breast [RCV000515286]|Hereditary breast ovarian cancer syndrome [RCV000586482]|Hereditary cancer-predisposing syndrome [RCV000115994]|Inherited breast cancer and ovarian cancer [RCV004691717]|Malignant tumor of breast [RCV001354412]|TUMOR PREDISPOSITION SYNDROME 4, BREAST [RCV003333691]|not provided [RCV000212459] | Chr22:28695219 [GRCh38] Chr22:29091207 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|risk factor|established risk allele|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance|low penetrance |
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) | duplication | Familial cancer of breast [RCV000543962]|Hereditary cancer-predisposing syndrome [RCV000583942] | Chr22:28695804..28695805 [GRCh38] Chr22:29091792..29091793 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.469A>G (p.Ile157Val) | single nucleotide variant | Familial cancer of breast [RCV000544695] | Chr22:28725100 [GRCh38] Chr22:29121088 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-11C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000774330] | Chr22:28695253 [GRCh38] Chr22:29091241 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083730)_(29121356_29130390)dup | duplication | not specified [RCV001290638] | Chr22:29083730..29121356 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.412A>C (p.Thr138Pro) | single nucleotide variant | not specified [RCV003320519] | Chr22:28725275 [GRCh38] Chr22:29121263 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe) | single nucleotide variant | Familial cancer of breast [RCV000552330]|Hereditary cancer-predisposing syndrome [RCV001018098]|not provided [RCV002282209] | Chr22:28703551 [GRCh38] Chr22:29099539 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1107T>G (p.Phe369Leu) | single nucleotide variant | Familial cancer of breast [RCV000553644]|Hereditary cancer-predisposing syndrome [RCV002456087] | Chr22:28695862 [GRCh38] Chr22:29091850 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.481G>C (p.Glu161Gln) | single nucleotide variant | Familial cancer of breast [RCV000556804]|Hereditary cancer-predisposing syndrome [RCV001023111] | Chr22:28725088 [GRCh38] Chr22:29121076 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala) | single nucleotide variant | Familial cancer of breast [RCV002526828]|Hereditary cancer-predisposing syndrome [RCV000562187] | Chr22:28689161 [GRCh38] Chr22:29085149 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.319+8C>G | single nucleotide variant | Familial cancer of breast [RCV000557399]|Hereditary cancer-predisposing syndrome [RCV000777282] | Chr22:28734395 [GRCh38] Chr22:29130383 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1543-10T>G | single nucleotide variant | Familial cancer of breast [RCV001479024] | Chr22:28687996 [GRCh38] Chr22:29083984 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.107A>G (p.Gln36Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563573] | Chr22:28734615 [GRCh38] Chr22:29130603 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.527G>A (p.Gly176Glu) | single nucleotide variant | Familial cancer of breast [RCV000526154]|Hereditary cancer-predisposing syndrome [RCV000573749] | Chr22:28725042 [GRCh38] Chr22:29121030 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His) | single nucleotide variant | Familial cancer of breast [RCV001065388]|Hereditary cancer-predisposing syndrome [RCV000563992]|not provided [RCV003478234] | Chr22:28719420 [GRCh38] Chr22:29115408 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1304C>T (p.Ser435Leu) | single nucleotide variant | Familial cancer of breast [RCV002528127]|Hereditary cancer-predisposing syndrome [RCV000560984] | Chr22:28695198 [GRCh38] Chr22:29091186 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.347G>C (p.Gly116Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561168] | Chr22:28725340 [GRCh38] Chr22:29121328 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1582G>C (p.Glu528Gln) | single nucleotide variant | Familial cancer of breast [RCV000547565] | Chr22:28687947 [GRCh38] Chr22:29083935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu) | single nucleotide variant | Familial cancer of breast [RCV000548105]|Hereditary cancer-predisposing syndrome [RCV000777280] | Chr22:28699902 [GRCh38] Chr22:29095890 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-1G>A | single nucleotide variant | Breast and/or ovarian cancer [RCV001270938]|Familial cancer of breast [RCV000806075]|Gastric cancer [RCV003159957]|Hereditary cancer-predisposing syndrome [RCV000567692]|not provided [RCV004719877] | Chr22:28712018 [GRCh38] Chr22:29108006 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1522C>T (p.Leu508=) | single nucleotide variant | Familial cancer of breast [RCV002060465]|Hereditary cancer-predisposing syndrome [RCV000564469] | Chr22:28689155 [GRCh38] Chr22:29085143 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His) | single nucleotide variant | Familial cancer of breast [RCV000553424]|Hereditary cancer-predisposing syndrome [RCV004023840]|not specified [RCV002465700] | Chr22:28725281 [GRCh38] Chr22:29121269 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.854TCA[1] (p.Ile286del) | microsatellite | Familial cancer of breast [RCV000555653] | Chr22:28703554..28703556 [GRCh38] Chr22:29099542..29099544 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) | deletion | Familial cancer of breast [RCV000556192]|Hereditary cancer-predisposing syndrome [RCV002358485] | Chr22:28724991..28724992 [GRCh38] Chr22:29120979..29120980 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1276C>G (p.Pro426Ala) | single nucleotide variant | Familial cancer of breast [RCV000552175]|Hereditary cancer-predisposing syndrome [RCV000570156] | Chr22:28695226 [GRCh38] Chr22:29091214 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687891)_(28703572_?)del | deletion | Familial cancer of breast [RCV000544738] | Chr22:28687891..28703572 [GRCh38] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.444+7_444+8insTCTCCTAG | insertion | Familial cancer of breast [RCV000560435] | Chr22:28725235..28725236 [GRCh38] Chr22:29121223..29121224 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.129C>G (p.Thr43=) | single nucleotide variant | Familial cancer of breast [RCV000546276] | Chr22:28734593 [GRCh38] Chr22:29130581 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1162C>G (p.Pro388Ala) | single nucleotide variant | Familial cancer of breast [RCV001858288]|Hereditary cancer-predisposing syndrome [RCV000562664] | Chr22:28695807 [GRCh38] Chr22:29091795 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.709G>T (p.Ala237Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000563447] | Chr22:28711992 [GRCh38] Chr22:29107980 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1193C>T (p.Ser398Phe) | single nucleotide variant | Familial cancer of breast [RCV005091301]|Hereditary cancer-predisposing syndrome [RCV000565624] | Chr22:28695776 [GRCh38] Chr22:29091764 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del) | microsatellite | Familial cancer of breast [RCV000702939]|Hereditary cancer-predisposing syndrome [RCV000565801] | Chr22:28687977..28687979 [GRCh38] Chr22:29083965..29083967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) | single nucleotide variant | CHEK2-related disorder [RCV004541672]|Familial cancer of breast [RCV000525093]|Hereditary cancer-predisposing syndrome [RCV000570615] | Chr22:28699849 [GRCh38] Chr22:29095837 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.166A>G (p.Ser56Gly) | single nucleotide variant | Familial cancer of breast [RCV001363974]|Hereditary cancer-predisposing syndrome [RCV000567445] | Chr22:28734556 [GRCh38] Chr22:29130544 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.621T>A (p.Asp207Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561547] | Chr22:28719457 [GRCh38] Chr22:29115445 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.762del (p.Lys255fs) | deletion | Familial cancer of breast [RCV000548678]|Hereditary cancer-predisposing syndrome [RCV004023842] | Chr22:28711939 [GRCh38] Chr22:29107927 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly) | single nucleotide variant | Familial cancer of breast [RCV000534212]|Hereditary cancer-predisposing syndrome [RCV000567460]|not provided [RCV004592563] | Chr22:28695741 [GRCh38] Chr22:29091729 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1486C>A (p.Gln496Lys) | single nucleotide variant | Familial cancer of breast [RCV001858164]|Hereditary cancer-predisposing syndrome [RCV000565554] | Chr22:28689191 [GRCh38] Chr22:29085179 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-1G>A | single nucleotide variant | Familial cancer of breast [RCV000794944]|Hereditary cancer-predisposing syndrome [RCV000567556] | Chr22:28699938 [GRCh38] Chr22:29095926 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.382C>A (p.Pro128Thr) | single nucleotide variant | Familial cancer of breast [RCV000551518]|Hereditary cancer-predisposing syndrome [RCV002358484]|not provided [RCV005000152] | Chr22:28725305 [GRCh38] Chr22:29121293 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) | single nucleotide variant | Familial cancer of breast [RCV000875791]|Hereditary cancer-predisposing syndrome [RCV000565619]|not specified [RCV000609617] | Chr22:28734467 [GRCh38] Chr22:29130455 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.597del (p.Phe199fs) | deletion | Familial cancer of breast [RCV000635856]|Hereditary cancer-predisposing syndrome [RCV000565709]|not provided [RCV001702682] | Chr22:28719481 [GRCh38] Chr22:29115469 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1035C>A (p.His345Gln) | single nucleotide variant | Familial cancer of breast [RCV000556996] | Chr22:28696961 [GRCh38] Chr22:29092949 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.895A>G (p.Ile299Val) | single nucleotide variant | Familial cancer of breast [RCV000557788]|Hereditary cancer-predisposing syndrome [RCV004023843] | Chr22:28703518 [GRCh38] Chr22:29099506 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser) | single nucleotide variant | Familial cancer of breast [RCV000804093]|Hereditary cancer-predisposing syndrome [RCV000562345]|not provided [RCV003478206] | Chr22:28703566 [GRCh38] Chr22:29099554 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly) | single nucleotide variant | Familial cancer of breast [RCV000685523]|Hereditary cancer-predisposing syndrome [RCV000568147]|not provided [RCV004773001] | Chr22:28696960 [GRCh38] Chr22:29092948 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) | single nucleotide variant | Familial cancer of breast [RCV001240305]|Hereditary cancer-predisposing syndrome [RCV000777112]|not provided [RCV000519455] | Chr22:28695771 [GRCh38] Chr22:29091759 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly) | single nucleotide variant | Familial cancer of breast [RCV002530306]|Hereditary cancer-predisposing syndrome [RCV000568476]|not specified [RCV003320475] | Chr22:28695866 [GRCh38] Chr22:29091854 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp) | single nucleotide variant | Familial cancer of breast [RCV001857966]|Hereditary cancer-predisposing syndrome [RCV001009631]|not provided [RCV000521186] | Chr22:28699845 [GRCh38] Chr22:29095833 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly) | single nucleotide variant | CHEK2-related disorder [RCV004527662]|Familial cancer of breast [RCV001248007]|Hereditary cancer-predisposing syndrome [RCV000568579] | Chr22:28725286 [GRCh38] Chr22:29121274 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1008+1G>A | single nucleotide variant | Familial cancer of breast [RCV000804027]|Hereditary cancer-predisposing syndrome [RCV000564808] | Chr22:28699837 [GRCh38] Chr22:29095825 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) | single nucleotide variant | Familial cancer of breast [RCV001048041]|Hereditary cancer-predisposing syndrome [RCV000777671]|not provided [RCV000519815] | Chr22:28710050 [GRCh38] Chr22:29106038 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.320-5T>C | single nucleotide variant | Familial cancer of breast [RCV001503041]|Hereditary cancer-predisposing syndrome [RCV000566443]|not specified [RCV001269219] | Chr22:28725372 [GRCh38] Chr22:29121360 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.926T>C (p.Leu309Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000567110] | Chr22:28699920 [GRCh38] Chr22:29095908 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) | single nucleotide variant | Familial cancer of breast [RCV000555442]|Hereditary cancer-predisposing syndrome [RCV000565631] | Chr22:28695810 [GRCh38] Chr22:29091798 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1433AAG[1] (p.Glu479del) | microsatellite | Familial cancer of breast [RCV001070441]|Hereditary cancer-predisposing syndrome [RCV000563991] | Chr22:28694055..28694057 [GRCh38] Chr22:29090043..29090045 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29115377)_(29115479_?)del | deletion | Familial cancer of breast [RCV000547416] | Chr22:29115377..29115479 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.566T>C (p.Ile189Thr) | single nucleotide variant | Familial cancer of breast [RCV000539499]|Hereditary cancer-predisposing syndrome [RCV000569616] | Chr22:28725003 [GRCh38] Chr22:29120991 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1038T>C (p.Arg346=) | single nucleotide variant | Familial cancer of breast [RCV000545512]|Hereditary cancer-predisposing syndrome [RCV002395339] | Chr22:28696958 [GRCh38] Chr22:29092946 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.847C>G (p.Pro283Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561226] | Chr22:28703566 [GRCh38] Chr22:29099554 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.983T>G (p.Phe328Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000561309] | Chr22:28699863 [GRCh38] Chr22:29095851 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.340T>G (p.Trp114Gly) | single nucleotide variant | Familial cancer of breast [RCV001051713]|Hereditary cancer-predisposing syndrome [RCV000564693] | Chr22:28725347 [GRCh38] Chr22:29121335 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu) | single nucleotide variant | Familial cancer of breast [RCV001211147]|Hereditary cancer-predisposing syndrome [RCV003159668]|not provided [RCV000519335] | Chr22:28725114 [GRCh38] Chr22:29121102 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 | copy number gain | See cases [RCV000050553] | Chr22:26979579..33992220 [GRCh38] Chr22:27375542..34388209 [GRCh37] Chr22:25705542..32718209 [NCBI36] Chr22:22q12.1-12.3 |
pathogenic |
GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3 | copy number gain | See cases [RCV000052852] | Chr22:27557778..28988149 [GRCh38] Chr22:27953739..29384137 [GRCh37] Chr22:26283739..27714137 [NCBI36] Chr22:22q12.1 |
uncertain significance |
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1 | copy number loss | See cases [RCV000052869] | Chr22:26221273..29477543 [GRCh38] Chr22:26617239..29873532 [GRCh37] Chr22:24947239..28203532 [NCBI36] Chr22:22q12.1-12.2 |
pathogenic |
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 | copy number loss | See cases [RCV000052870] | Chr22:28278805..31742328 [GRCh38] Chr22:28674793..32138314 [GRCh37] Chr22:27004793..30468314 [NCBI36] Chr22:22q12.1-12.2 |
pathogenic |
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 | copy number loss | See cases [RCV000052871] | Chr22:28441035..30276511 [GRCh38] Chr22:28837023..30672500 [GRCh37] Chr22:27167023..29002500 [NCBI36] Chr22:22q12.1-12.2 |
pathogenic |
NM_007194.4(CHEK2):c.1136C>T (p.Ser379Phe) | single nucleotide variant | Familial cancer of breast [RCV000232957]|Hereditary cancer-predisposing syndrome [RCV001009944] | Chr22:28695833 [GRCh38] Chr22:29091821 [GRCh37] Chr22:27421821 [NCBI36] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) | deletion | Familial cancer of breast [RCV000706768]|Hereditary cancer-predisposing syndrome [RCV004609475]|not provided [RCV000657278] | Chr22:28695873 [GRCh38] Chr22:29091861 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) | deletion | Familial cancer of breast [RCV000662880]|Hereditary cancer-predisposing syndrome [RCV002388158]|Incidental Discovery [RCV005251003]|not provided [RCV000657319] | Chr22:28689181..28689185 [GRCh38] Chr22:29085169..29085173 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) | single nucleotide variant | Familial cancer of breast [RCV001377422]|Hereditary cancer-predisposing syndrome [RCV002388160]|not provided [RCV000657698] | Chr22:28689167 [GRCh38] Chr22:29085155 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) | single nucleotide variant | Familial cancer of breast [RCV000471346]|Hereditary cancer-predisposing syndrome [RCV000131220]|not provided [RCV000114752]|not specified [RCV003493441] | Chr22:28734600 [GRCh38] Chr22:29130588 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.684-74G>C | single nucleotide variant | Hereditary breast ovarian cancer syndrome [RCV002225313]|not provided [RCV000114753] | Chr22:28712091 [GRCh38] Chr22:29108079 [GRCh37] Chr22:22q12.1 |
likely benign|not provided |
NM_007194.4(CHEK2):c.684-4C>G | single nucleotide variant | Familial cancer of breast [RCV000546556]|Hereditary cancer-predisposing syndrome [RCV001025721]|not provided [RCV000114754] | Chr22:28712021 [GRCh38] Chr22:29108009 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1008+71A>G | single nucleotide variant | not provided [RCV000114755] | Chr22:28699767 [GRCh38] Chr22:29095755 [GRCh37] Chr22:22q12.1 |
not provided |
NM_007194.4(CHEK2):c.-34A>T | single nucleotide variant | not provided [RCV000114756]|not specified [RCV000426082] | Chr22:28741796 [GRCh38] Chr22:29137784 [GRCh37] Chr22:22q12.1 |
likely benign|not provided |
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) | single nucleotide variant | CHEK2-related disorder [RCV004528798]|Familial cancer of breast [RCV000474753]|Hereditary cancer-predisposing syndrome [RCV000132117]|Malignant tumor of breast [RCV001355098]|Prostate cancer [RCV002288586]|not provided [RCV000114763]|not specified [RCV000781298] | Chr22:28696929 [GRCh38] Chr22:29092917 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) | single nucleotide variant | Familial cancer of breast [RCV000232135]|Hereditary cancer-predisposing syndrome [RCV000115988]|not provided [RCV000114764]|not specified [RCV004595927] | Chr22:28695768 [GRCh38] Chr22:29091756 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798305]|CHEK2-related cancer predisposition [RCV005414454]|Familial cancer of breast [RCV000196666]|Familial cancer of breast [RCV000515378]|Hereditary cancer-predisposing syndrome [RCV000449435]|Malignant tumor of breast [RCV001356532]|not provided [RCV000114765]|not specified [RCV000160437] | Chr22:28695166 [GRCh38] Chr22:29091154 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492448]|CHEK2-related cancer predisposition [RCV003387763]|CHEK2-related disorder [RCV004737196]|Familial cancer of breast [RCV000206096]|Hereditary breast ovarian cancer syndrome [RCV004804112]|Hereditary cancer-predisposing syndrome [RCV000116000]|not provided [RCV000114766]|not specified [RCV004700414] | Chr22:28694072 [GRCh38] Chr22:29090060 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1259+1G>C | single nucleotide variant | Familial cancer of breast [RCV000816882]|Hereditary cancer-predisposing syndrome [RCV000566906]|not provided [RCV000114767] | Chr22:28695709 [GRCh38] Chr22:29091697 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|not provided |
NM_007194.4(CHEK2):c.1259+28A>G | single nucleotide variant | not provided [RCV000114768] | Chr22:28695682 [GRCh38] Chr22:29091670 [GRCh37] Chr22:22q12.1 |
not provided |
NM_007194.4(CHEK2):c.1543-31del | deletion | not provided [RCV000114769] | Chr22:28688017 [GRCh38] Chr22:29084005 [GRCh37] Chr22:22q12.1 |
not provided |
NM_007194.4(CHEK2):c.444+1G>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005394377]|Familial cancer of breast [RCV000199852]|Hereditary cancer-predisposing syndrome [RCV001022484]|not provided [RCV000114770] | Chr22:28725242 [GRCh38] Chr22:29121230 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|not provided |
NM_007194.4(CHEK2):c.320-5T>A | single nucleotide variant | Breast and/or ovarian cancer [RCV001798354]|CHEK2-related disorder [RCV004528807]|Familial cancer of breast [RCV000195943]|Familial cancer of breast [RCV001171460]|Hereditary cancer [RCV003492504]|Hereditary cancer-predisposing syndrome [RCV000116011]|not provided [RCV000119289]|not specified [RCV000212412] | Chr22:28725372 [GRCh38] Chr22:29121360 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu) | single nucleotide variant | Familial cancer of breast [RCV001325070]|Hereditary cancer-predisposing syndrome [RCV000115981]|not provided [RCV000212448] | Chr22:28695860 [GRCh38] Chr22:29091848 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) | single nucleotide variant | Breast and/or ovarian cancer [RCV001797995]|CHEK2-related cancer predisposition [RCV001294022]|CHEK2-related cancer predisposition [RCV005025011]|Familial cancer of breast [RCV000233960]|Familial cancer of breast [RCV000765623]|Hereditary breast ovarian cancer syndrome [RCV001030688]|Hereditary cancer-predisposing syndrome [RCV000129670]|Malignant tumor of breast [RCV001357854]|Prostate cancer [RCV003333687]|not provided [RCV000114761]|not specified [RCV001193685] | Chr22:28725027 [GRCh38] Chr22:29121015 [GRCh37] Chr22:22q12.1 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004760322]|CHEK2-related disorder [RCV004532294]|Familial cancer of breast [RCV000205850]|Familial cancer of breast [RCV002476934]|Hereditary cancer-predisposing syndrome [RCV000131201]|Predisposition to cancer [RCV001789748]|Prostate cancer [RCV003333689]|not provided [RCV000114762]|not specified [RCV001818140] | Chr22:28711986 [GRCh38] Chr22:29107974 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
NM_007194.3(CHEK2):c.320-3581C>G | single nucleotide variant | Lung cancer [RCV000102013] | Chr22:28728948 [GRCh38] Chr22:29124936 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-4C>T | single nucleotide variant | CHEK2-related disorder [RCV004542826]|Familial cancer of breast [RCV000232150]|Familial ovarian cancer [RCV001356669]|Hereditary breast ovarian cancer syndrome [RCV005251063]|Hereditary cancer-predisposing syndrome [RCV000115977]|not provided [RCV000589024]|not specified [RCV001175353] | Chr22:28734725 [GRCh38] Chr22:29130713 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.-6-9C>G | single nucleotide variant | not provided [RCV000115978] | Chr22:28734736 [GRCh38] Chr22:29130724 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6G>A | single nucleotide variant | CHEK2-related disorder [RCV004542827]|Familial cancer of breast [RCV000197200]|Familial cancer of breast [RCV005406829]|Hereditary cancer-predisposing syndrome [RCV000776065]|Malignant tumor of breast [RCV001357979]|not provided [RCV000590166]|not specified [RCV000722128] | Chr22:28734727 [GRCh38] Chr22:29130715 [GRCh37] Chr22:22q12.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) | deletion | Astrocytoma [RCV000591014]|Bone osteosarcoma [RCV001770086]|Breast and colorectal cancer, susceptibility to [RCV000210137]|Breast and/or ovarian cancer [RCV001270933]|Breast cancer, susceptibility to [RCV000500025]|Breast carcinoma [RCV001572630]|Breast neoplasm [RCV000413386]|Breast neoplasm [RCV000488416]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004760381]|CHEK2-related cancer predisposition [RCV000005932]|CHEK2-related cancer predisposition [RCV005025181]|CHEK2-related disorder [RCV004528801]|Carcinoma of pancreas [RCV001391208]|Colorectal cancer [RCV002463641]|Familial cancer of breast [RCV000123265]|Familial cancer of breast [RCV000515188]|Familial cancer of breast [RCV005255483]|Hereditary breast ovarian cancer syndrome [RCV002225332]|Hereditary cancer-predisposing syndrome [RCV000115980]|Inherited breast cancer and ovarian cancer [RCV004577323]|Inherited prostate cancer [RCV005430495]|Li-Fraumeni syndrome 1 [RCV003388828]|Li-Fraumeni syndrome [RCV000587467]|Malignant tumor of breast [RCV001354431]|NICE approved PARP inhibitor treatment [RCV004691754]|Ovarian neoplasm [RCV003445511]|Predisposition to cancer [RCV002291559]|Prostate cancer [RCV003992185]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL [RCV003333692]|not provided [RCV000212447] | Chr22:28695869 [GRCh38] Chr22:29091857 [GRCh37] Chr22:22q12.1 |
pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided |
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) | single nucleotide variant | Bone osteosarcoma [RCV003448266]|Breast neoplasm [RCV000677873]|CHEK2-related cancer predisposition [RCV005003475]|CHEK2-related disorder [RCV004529939]|Familial cancer of breast [RCV000197709]|Familial cancer of breast [RCV001527478]|Hereditary breast ovarian cancer syndrome [RCV001030625]|Hereditary cancer-predisposing syndrome [RCV000115982]|Malignant tumor of breast [RCV001355387]|not provided [RCV000656834]|not specified [RCV000212449] | Chr22:28695858 [GRCh38] Chr22:29091846 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149808]|CHEK2-related cancer predisposition [RCV005365001]|Familial cancer of breast [RCV000412249]|Hereditary cancer-predisposing syndrome [RCV000115983]|not provided [RCV000212450]|not specified [RCV001171425] | Chr22:28695839 [GRCh38] Chr22:29091827 [GRCh37] Chr22:22q12.1 |
benign|uncertain significance |
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) | single nucleotide variant | CHEK2-related disorder [RCV004529940]|Familial cancer of breast [RCV000231285]|Familial cancer of breast [RCV000764376]|Hereditary cancer-predisposing syndrome [RCV000115984]|not provided [RCV000656835]|not specified [RCV001420894] | Chr22:28695836 [GRCh38] Chr22:29091824 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) | single nucleotide variant | Familial cancer of breast [RCV000531635]|Hereditary cancer-predisposing syndrome [RCV000571263]|not provided [RCV000115985]|not specified [RCV002307396] | Chr22:28695809 [GRCh38] Chr22:29091797 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025182]|Familial cancer of breast [RCV000228584]|Hereditary breast ovarian cancer syndrome [RCV003483480]|Hereditary cancer-predisposing syndrome [RCV000115986]|Malignant tumor of breast [RCV001356701]|not provided [RCV000212453]|not specified [RCV003226200] | Chr22:28695789 [GRCh38] Chr22:29091777 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) | single nucleotide variant | Breast and/or ovarian cancer [RCV001270934]|CHEK2-related disorder [RCV004737197]|Familial cancer of breast [RCV000230538]|Hereditary breast ovarian cancer syndrome [RCV004760382]|Hereditary cancer-predisposing syndrome [RCV000115987]|not provided [RCV000212454]|not specified [RCV003114262] | Chr22:28695786 [GRCh38] Chr22:29091774 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359095]|Familial cancer of breast [RCV000199599]|Familial cancer of breast [RCV000764373]|Hereditary breast ovarian cancer syndrome [RCV004764764]|Hereditary cancer-predisposing syndrome [RCV000219945]|not provided [RCV000115989] | Chr22:28695754 [GRCh38] Chr22:29091742 [GRCh37] Chr22:22q12.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg) | single nucleotide variant | Familial cancer of breast [RCV000635812]|Hereditary cancer-predisposing syndrome [RCV000579835]|not provided [RCV000115990] | Chr22:28695738 [GRCh38] Chr22:29091726 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) | deletion | Familial cancer of breast [RCV000635839]|Hereditary cancer-predisposing syndrome [RCV002415594]|not provided [RCV000115991] | Chr22:28695715 [GRCh38] Chr22:29091703 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) | deletion | Breast and/or ovarian cancer [RCV003149809]|CHEK2-related cancer predisposition [RCV003313937]|CHEK2-related cancer predisposition [RCV005003476]|CHEK2-related disorder [RCV004737198]|Familial cancer of breast [RCV000198820]|Hereditary breast ovarian cancer syndrome [RCV000585980]|Hereditary cancer-predisposing syndrome [RCV000115992]|Predisposition to cancer [RCV002254679]|Prostate cancer [RCV001542702]|not provided [RCV000212457] | Chr22:28695239 [GRCh38] Chr22:29091227 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492501]|CHEK2-related cancer predisposition [RCV005031610]|CHEK2-related cancer predisposition [RCV005414455]|CHEK2-related disorder [RCV004528802]|Familial cancer of breast [RCV000197909]|Familial cancer of breast [RCV000515214]|Hereditary breast ovarian cancer syndrome [RCV004764765]|Hereditary cancer-predisposing syndrome [RCV000115993]|Malignant tumor of breast [RCV001355460]|not provided [RCV000590008]|not specified [RCV001175351] | Chr22:28695232 [GRCh38] Chr22:29091220 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser) | single nucleotide variant | not provided [RCV000115995] | Chr22:28695209 [GRCh38] Chr22:29091197 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003493445]|Familial cancer of breast [RCV000206044]|Familial cancer of breast [RCV000234795]|Familial cancer of breast [RCV000764370]|Hereditary cancer-predisposing syndrome [RCV000115999]|not provided [RCV000588723]|not specified [RCV002222396] | Chr22:28694073 [GRCh38] Chr22:29090061 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798350]|CHEK2-related cancer predisposition [RCV001294021]|CHEK2-related disorder [RCV004528803]|Carcinoma of colon [RCV001356041]|Familial cancer of breast [RCV000199565]|Familial cancer of breast [RCV000515311]|Hereditary breast ovarian cancer syndrome [RCV003483481]|Hereditary cancer [RCV003492502]|Hereditary cancer-predisposing syndrome [RCV000115996]|Malignant tumor of breast [RCV001269492]|not provided [RCV000587890]|not specified [RCV000200982] | Chr22:28695190 [GRCh38] Chr22:29091178 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu) | single nucleotide variant | Familial cancer of breast [RCV000796599]|Hereditary cancer-predisposing syndrome [RCV000234920]|not provided [RCV000115997] | Chr22:28695184 [GRCh38] Chr22:29091172 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1318A>T (p.Ile440Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003362689]|not provided [RCV000115998] | Chr22:28695184 [GRCh38] Chr22:29091172 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210077]|Breast and/or ovarian cancer [RCV001798351]|Breast carcinoma [RCV001572627]|Breast neoplasm [RCV000317389]|CHEK2-related cancer predisposition [RCV003444200]|CHEK2-related cancer predisposition [RCV005025183]|CHEK2-related disorder [RCV004528804]|Colon cancer [RCV001564016]|Colorectal cancer [RCV000259876]|Familial cancer of breast [RCV000198554]|Familial cancer of breast [RCV004820830]|Hereditary breast ovarian cancer syndrome [RCV005089582]|Hereditary cancer-predisposing syndrome [RCV000116001]|Malignant tumor of breast [RCV001357877]|not provided [RCV000212465]|not specified [RCV000499890] | Chr22:28694066 [GRCh38] Chr22:29090054 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|established risk allele|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) | single nucleotide variant | Familial cancer of breast [RCV000199678]|Hereditary cancer-predisposing syndrome [RCV000116002]|not provided [RCV000679674] | Chr22:28694045 [GRCh38] Chr22:29090033 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) | single nucleotide variant | Familial cancer of breast [RCV000462156]|Hereditary cancer-predisposing syndrome [RCV000116003]|not provided [RCV000212469]|not specified [RCV003321507] | Chr22:28689207 [GRCh38] Chr22:29085195 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025184]|CHEK2-related disorder [RCV004528805]|Familial cancer of breast [RCV000200569]|Familial cancer of breast [RCV000764368]|Familial cancer of breast [RCV003483482]|Hereditary cancer-predisposing syndrome [RCV000116004]|Li-Fraumeni syndrome [RCV005359096]|not provided [RCV000212472]|not specified [RCV000781300] | Chr22:28689152 [GRCh38] Chr22:29085140 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210124]|Breast and/or ovarian cancer [RCV001798352]|CHEK2-related cancer predisposition [RCV001705822]|CHEK2-related cancer predisposition [RCV004796022]|Familial cancer of breast [RCV000471222]|Familial cancer of breast [RCV004819219]|Gastric cancer [RCV003162543]|Hereditary breast ovarian cancer syndrome [RCV000589100]|Hereditary cancer-predisposing syndrome [RCV000116005]|not provided [RCV000212474] | Chr22:28687974 [GRCh38] Chr22:29083962 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) | single nucleotide variant | Familial cancer of breast [RCV000227687]|Hereditary cancer-predisposing syndrome [RCV000116006]|not provided [RCV000212475]|not specified [RCV002265609] | Chr22:28687973 [GRCh38] Chr22:29083961 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798353]|CHEK2-related cancer predisposition [RCV005025185]|CHEK2-related disorder [RCV004529941]|Familial cancer of breast [RCV000198277]|Familial cancer of breast [RCV000515321]|Hereditary cancer [RCV003492503]|Hereditary cancer-predisposing syndrome [RCV000116007]|Malignant tumor of breast [RCV001357730]|Predisposition to cancer [RCV002291560]|not provided [RCV000586195]|not specified [RCV000212476] | Chr22:28687973 [GRCh38] Chr22:29083961 [GRCh37] Chr22:22q12.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) | single nucleotide variant | Familial cancer of breast [RCV000412260]|Hereditary cancer-predisposing syndrome [RCV000116008]|Hereditary nonpolyposis colon cancer [RCV005359097]|not provided [RCV000212482]|not specified [RCV001818284] | Chr22:28687925 [GRCh38] Chr22:29083913 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210191]|Breast and/or ovarian cancer [RCV001270935]|CHEK2-related cancer predisposition [RCV003338414]|CHEK2-related cancer predisposition [RCV005025186]|CHEK2-related disorder [RCV004528806]|Familial cancer of breast [RCV000199067]|Hereditary breast ovarian cancer syndrome [RCV002265610]|Hereditary cancer-predisposing syndrome [RCV000116009]|Malignant tumor of breast [RCV001356247]|Predisposition to cancer [RCV003153376]|not provided [RCV000212407]|not specified [RCV002465520] | Chr22:28734532 [GRCh38] Chr22:29130520 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) | microsatellite | Breast and/or ovarian cancer [RCV003149810]|CHEK2-related cancer predisposition [RCV005025187]|CHEK2-related cancer predisposition [RCV005359098]|CHEK2-related disorder [RCV004724810]|Familial cancer of breast [RCV000197398]|Hereditary cancer [RCV005229914]|Hereditary cancer-predisposing syndrome [RCV000116010]|Malignant tumor of breast [RCV001357842]|Predisposition to cancer [RCV001543105]|not provided [RCV000587933]|not specified [RCV000212408] | Chr22:28734462..28734476 [GRCh38] Chr22:29130450..29130464 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798355]|Breast cancer, susceptibility to [RCV001258041]|CHEK2-related cancer predisposition [RCV001787918]|CHEK2-related cancer predisposition [RCV005003477]|CHEK2-related disorder [RCV003114263]|Familial cancer of breast [RCV000204429]|Hereditary breast ovarian cancer syndrome [RCV001374534]|Hereditary cancer-predisposing syndrome [RCV000116012]|Inherited breast cancer and ovarian cancer [RCV005252761]|Malignant tumor of breast [RCV001263516]|Predisposition to cancer [RCV001526815]|not provided [RCV000212414] | Chr22:28725338 [GRCh38] Chr22:29121326 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) | single nucleotide variant | Familial cancer of breast [RCV000473822]|Familial cancer of breast [RCV002477285]|Hereditary cancer-predisposing syndrome [RCV000116013]|Hereditary nonpolyposis colon cancer [RCV005365002]|not provided [RCV000212415] | Chr22:28725287 [GRCh38] Chr22:29121275 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798356]|CHEK2-related cancer predisposition [RCV005234999]|Familial cancer of breast [RCV000204285]|Hereditary cancer-predisposing syndrome [RCV000116014]|not provided [RCV000588933]|not specified [RCV000254657] | Chr22:28725277 [GRCh38] Chr22:29121265 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys) | single nucleotide variant | Familial cancer of breast [RCV000693527]|Hereditary cancer-predisposing syndrome [RCV000563962]|not provided [RCV000116015] | Chr22:28725271 [GRCh38] Chr22:29121259 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444+1G>A | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210090]|Breast and/or ovarian cancer [RCV001270936]|Breast cancer, susceptibility to [RCV000501923]|Breast carcinoma [RCV001554253]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246647]|CHEK2-related cancer predisposition [RCV001705823]|CHEK2-related cancer predisposition [RCV005031611]|CHEK2-related disorder [RCV004737199]|Colorectal cancer [RCV002463642]|Endometrial carcinoma [RCV003128145]|Familial cancer of breast [RCV000196718]|Familial cancer of breast [RCV000763475]|Familial cancer of breast [RCV001171461]|Hereditary cancer-predisposing syndrome [RCV000116017]|Inherited breast cancer and ovarian cancer [RCV004772840]|Malignant tumor of breast [RCV001354639]|Melanoma [RCV002508922]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003333693]|not provided [RCV000212418] | Chr22:28725242 [GRCh38] Chr22:29121230 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001292859]|Familial cancer of breast [RCV000464571]|Hereditary cancer-predisposing syndrome [RCV000116019]|Predisposition to cancer [RCV003444201]|not provided [RCV000766748] | Chr22:28725090 [GRCh38] Chr22:29121078 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798357]|CHEK2-related cancer predisposition [RCV003387765]|CHEK2-related disorder [RCV004529942]|Familial cancer of breast [RCV001005035]|Hereditary cancer-predisposing syndrome [RCV000116020]|not provided [RCV000586231]|not specified [RCV001549277] | Chr22:28725089 [GRCh38] Chr22:29121077 [GRCh37] Chr22:22q12.1 |
risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) | single nucleotide variant | Familial cancer of breast [RCV000474336]|Hereditary cancer-predisposing syndrome [RCV000565735]|not provided [RCV000116021] | Chr22:28725069 [GRCh38] Chr22:29121057 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.507del (p.Phe169fs) | deletion | CHEK2-related cancer predisposition [RCV005359099]|Colorectal cancer [RCV002288601]|Familial cancer of breast [RCV000550157]|Hereditary cancer-predisposing syndrome [RCV000116022]|not provided [RCV000254658] | Chr22:28725062 [GRCh38] Chr22:29121050 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) | duplication | Familial cancer of breast [RCV001387573]|Hereditary cancer-predisposing syndrome [RCV000116023]|not provided [RCV000497285] | Chr22:28725044..28725045 [GRCh38] Chr22:29121032..29121033 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798358]|CHEK2-related cancer predisposition [RCV005414456]|CHEK2-related disorder [RCV004529943]|Familial cancer of breast [RCV000196561]|Hereditary breast ovarian cancer syndrome [RCV001030689]|Hereditary cancer-predisposing syndrome [RCV000116024]|Prostate cancer [RCV000490304]|not provided [RCV000588124]|not specified [RCV000212426] | Chr22:28725031 [GRCh38] Chr22:29121019 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) | single nucleotide variant | Familial cancer of breast [RCV000230801]|Familial cancer of breast [RCV002483188]|Familial prostate cancer [RCV005359100]|Hereditary cancer-predisposing syndrome [RCV000116026]|not provided [RCV000212429]|not specified [RCV005237553] | Chr22:28725004 [GRCh38] Chr22:29120992 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.581del (p.Ser194fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000116027] | Chr22:28724988 [GRCh38] Chr22:29120976 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492505]|Familial cancer of breast [RCV000206150]|Hereditary cancer-predisposing syndrome [RCV000573201]|Malignant tumor of breast [RCV001358532]|not provided [RCV000116028] | Chr22:28719465 [GRCh38] Chr22:29115453 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) | single nucleotide variant | Familial cancer of breast [RCV000233411]|Hereditary cancer-predisposing syndrome [RCV000571943]|not provided [RCV001704016]|not specified [RCV003150946] | Chr22:28734648 [GRCh38] Chr22:29130636 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359101]|Familial cancer of breast [RCV000206871]|Familial cancer of breast [RCV002490783]|Hereditary cancer-predisposing syndrome [RCV000116030]|not provided [RCV000587105]|not specified [RCV000212436] | Chr22:28711950 [GRCh38] Chr22:29107938 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) | single nucleotide variant | CHEK2-related disorder [RCV004529944]|Carcinoma of colon [RCV001357959]|Familial cancer of breast [RCV000464095]|Familial cancer of breast [RCV002477286]|Hereditary cancer-predisposing syndrome [RCV000116031]|not provided [RCV000212438]|not specified [RCV000780183] | Chr22:28703507 [GRCh38] Chr22:29099495 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) | single nucleotide variant | Familial cancer of breast [RCV000473787]|Hereditary cancer-predisposing syndrome [RCV000213975]|not provided [RCV000116032]|not specified [RCV001251264] | Chr22:28699931 [GRCh38] Chr22:29095919 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001251038]|Carcinoma of pancreas [RCV001391209]|Colonic neoplasm [RCV001579302]|Familial cancer of breast [RCV000228767]|Hereditary cancer-predisposing syndrome [RCV000116033]|Inherited breast cancer and ovarian cancer [RCV004584194]|Malignant tumor of breast [RCV001355901]|not provided [RCV000212440]|not specified [RCV003320458] | Chr22:28699929 [GRCh38] Chr22:29095917 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359102]|CHEK2-related disorder [RCV004737200]|Familial cancer of breast [RCV000205025]|Hereditary cancer-predisposing syndrome [RCV000116034]|not provided [RCV000212442]|not specified [RCV001818285] | Chr22:28699894 [GRCh38] Chr22:29095882 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.973A>C (p.Lys325Gln) | single nucleotide variant | not provided [RCV000116035] | Chr22:28699873 [GRCh38] Chr22:29095861 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV001270939]|CHEK2-related cancer predisposition [RCV005031612]|CHEK2-related disorder [RCV004529945]|Familial cancer of breast [RCV000410273]|Familial cancer of breast [RCV000515334]|Hereditary cancer-predisposing syndrome [RCV000116036]|not provided [RCV000212443] | Chr22:28699866 [GRCh38] Chr22:29095854 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.*7T>C | single nucleotide variant | Familial cancer of breast [RCV000206507]|Hereditary cancer-predisposing syndrome [RCV000584174]|Malignant tumor of breast [RCV001355148]|not provided [RCV000119290]|not specified [RCV000160461] | Chr22:28687890 [GRCh38] Chr22:29083878 [GRCh37] Chr22:22q12.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.444+24C>T | single nucleotide variant | not provided [RCV000119788]|not specified [RCV002465525] | Chr22:28725219 [GRCh38] Chr22:29121207 [GRCh37] Chr22:22q12.1 |
likely benign|not provided |
NM_007194.4(CHEK2):c.444+19T>C | single nucleotide variant | Breast and/or ovarian cancer [RCV003492568]|Familial cancer of breast [RCV000409756]|Hereditary cancer-predisposing syndrome [RCV000132152]|not provided [RCV001795226]|not specified [RCV000212419] | Chr22:28725224 [GRCh38] Chr22:29121212 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798421]|CHEK2-related disorder [RCV004530077]|Familial cancer of breast [RCV000468977]|Hereditary cancer-predisposing syndrome [RCV000124261]|not provided [RCV003237734]|not specified [RCV000212425] | Chr22:28725041 [GRCh38] Chr22:29121029 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.593-14C>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414458]|Familial cancer of breast [RCV000411378]|Hereditary breast ovarian cancer syndrome [RCV002225405]|Hereditary cancer-predisposing syndrome [RCV000580201]|Malignant tumor of breast [RCV001354198]|not provided [RCV005229937]|not specified [RCV000124262] | Chr22:28719499 [GRCh38] Chr22:29115487 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.847-17T>C | single nucleotide variant | CHEK2-related cancer predisposition [RCV005235030]|Familial cancer of breast [RCV000411612]|Hereditary cancer-predisposing syndrome [RCV000130978]|not specified [RCV000212437] | Chr22:28703583 [GRCh38] Chr22:29099571 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149857]|CHEK2-related cancer predisposition [RCV005235031]|Familial cancer of breast [RCV000200578]|Hereditary breast ovarian cancer syndrome [RCV002225406]|Hereditary cancer-predisposing syndrome [RCV000124265]|not provided [RCV000589618]|not specified [RCV000212461] | Chr22:28694086 [GRCh38] Chr22:29090074 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359180]|Familial cancer of breast [RCV000195471]|Hereditary cancer-predisposing syndrome [RCV000124266]|not provided [RCV000679676]|not specified [RCV000212470] | Chr22:28689180 [GRCh38] Chr22:29085168 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.-40G>T | single nucleotide variant | not specified [RCV000124267] | Chr22:28741802 [GRCh38] Chr22:29137790 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.*18C>T | single nucleotide variant | Breast and/or ovarian cancer [RCV003149858]|CHEK2-related cancer predisposition [RCV005414459]|Familial cancer of breast [RCV000411985]|Hereditary cancer-predisposing syndrome [RCV000580710]|not provided [RCV001682839]|not specified [RCV000124268] | Chr22:28687879 [GRCh38] Chr22:29083867 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) | single nucleotide variant | Familial cancer of breast [RCV000196102]|Hereditary cancer-predisposing syndrome [RCV000129718]|Malignant tumor of breast [RCV001355777]|not provided [RCV000656829]|not specified [RCV000120550] | Chr22:28734708 [GRCh38] Chr22:29130696 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) | single nucleotide variant | Breast carcinoma [RCV001640105]|CHEK2-related cancer predisposition [RCV003992188]|Familial cancer of breast [RCV000458969]|Familial cancer of breast [RCV004796025]|Familial ovarian cancer [RCV001356492]|Hereditary cancer-predisposing syndrome [RCV000579628]|Inherited breast cancer and ovarian cancer [RCV004584196]|not provided [RCV000255024]|not specified [RCV000120552] | Chr22:28734664 [GRCh38] Chr22:29130652 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided |
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414457]|Familial cancer of breast [RCV000231176]|Familial cancer of breast [RCV000765627]|Hereditary cancer-predisposing syndrome [RCV000132037]|Li-Fraumeni syndrome [RCV005359141]|not provided [RCV000766741]|not specified [RCV000120553] | Chr22:28734565 [GRCh38] Chr22:29130553 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005031619]|CHEK2-related disorder [RCV004737206]|Familial cancer of breast [RCV000472251]|Hereditary cancer-predisposing syndrome [RCV000129367]|Hereditary nonpolyposis colon cancer [RCV005359142]|not provided [RCV003114265]|not specified [RCV000120556] | Chr22:28711970 [GRCh38] Chr22:29107958 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149829]|CHEK2-related cancer predisposition [RCV005359143]|CHEK2-related disorder [RCV004529998]|Familial cancer of breast [RCV000460267]|Familial cancer of breast [RCV002498557]|Hereditary cancer-predisposing syndrome [RCV000131968]|not provided [RCV000656832]|not specified [RCV000120557] | Chr22:28699893 [GRCh38] Chr22:29095881 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His) | single nucleotide variant | Familial cancer of breast [RCV000457804]|Hereditary cancer-predisposing syndrome [RCV002381432]|not specified [RCV000120558] | Chr22:28695169 [GRCh38] Chr22:29091157 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149830]|CHEK2-related cancer predisposition [RCV005235008]|Familial cancer of breast [RCV000203747]|Hereditary cancer-predisposing syndrome [RCV000132487]|not provided [RCV000759042]|not specified [RCV000120559] | Chr22:28695159 [GRCh38] Chr22:28695159..28695160 [GRCh38] Chr22:29091147 [GRCh37] Chr22:29091147..29091148 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_007194.4(CHEK2):c.792+7A>T | single nucleotide variant | Familial cancer of breast [RCV001411174]|not provided [RCV001284621] | Chr22:28711902 [GRCh38] Chr22:29107890 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.423del (p.Lys142fs) | deletion | not provided [RCV001284619] | Chr22:28725264 [GRCh38] Chr22:29121252 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.1113C>G (p.His371Gln) | single nucleotide variant | Familial cancer of breast [RCV001302776] | Chr22:28695856 [GRCh38] Chr22:29091844 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) | microsatellite | Familial cancer of breast [RCV000576500] | Chr22:28725323..28725324 [GRCh38] Chr22:29121311..29121312 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.655G>C (p.Glu219Gln) | single nucleotide variant | not provided [RCV001284620] | Chr22:28719423 [GRCh38] Chr22:29115411 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg) | single nucleotide variant | Familial cancer of breast [RCV000144594]|Hereditary cancer-predisposing syndrome [RCV002371982]|not provided [RCV002277285] | Chr22:28699930 [GRCh38] Chr22:29095918 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.914A>G (p.Glu305Gly) | single nucleotide variant | Familial cancer of breast [RCV000144595] | Chr22:28699932 [GRCh38] Chr22:29095920 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593-3T>C | single nucleotide variant | Familial cancer of breast [RCV001348946] | Chr22:28719488 [GRCh38] Chr22:29115476 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.590A>G (p.Lys197Arg) | single nucleotide variant | Familial cancer of breast [RCV001348134] | Chr22:28724979 [GRCh38] Chr22:29120967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) | single nucleotide variant | Familial cancer of breast [RCV003335120]|Hereditary cancer-predisposing syndrome [RCV000130129] | Chr22:28695757 [GRCh38] Chr22:29091745 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu) | single nucleotide variant | Familial cancer of breast [RCV000227657]|Familial prostate cancer [RCV005359228]|Hereditary cancer-predisposing syndrome [RCV000130206]|not provided [RCV004998265] | Chr22:28725304 [GRCh38] Chr22:29121292 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025212]|Familial cancer of breast [RCV000475981]|Hereditary cancer-predisposing syndrome [RCV000130339]|not provided [RCV000393706]|not specified [RCV003150950] | Chr22:28689164 [GRCh38] Chr22:29085152 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) | single nucleotide variant | Familial cancer of breast [RCV000534347]|Hereditary cancer-predisposing syndrome [RCV000130380]|not provided [RCV001800433] | Chr22:28725337 [GRCh38] Chr22:29121325 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) | microsatellite | Breast and colorectal cancer, susceptibility to [RCV000210175]|CHEK2-related cancer predisposition [RCV005365028]|CHEK2-related disorder [RCV004737221]|Familial cancer of breast [RCV000198423]|Hereditary breast ovarian cancer syndrome [RCV000416789]|Hereditary cancer-predisposing syndrome [RCV000130429]|not provided [RCV000212423] | Chr22:28725084..28725086 [GRCh38] Chr22:29121072..29121074 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) | single nucleotide variant | CHEK2-related disorder [RCV004532562]|Familial cancer of breast [RCV000534707]|Hereditary cancer-predisposing syndrome [RCV000130483]|not provided [RCV000590254]|not specified [RCV001818313] | Chr22:28699935 [GRCh38] Chr22:29095923 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003448269]|Familial cancer of breast [RCV000206869]|Hereditary breast ovarian cancer syndrome [RCV001175336]|Hereditary cancer-predisposing syndrome [RCV000130486]|Malignant tumor of breast [RCV001355927]|Premature ovarian failure [RCV001270242]|Prostate cancer [RCV001787089]|not provided [RCV000222009] | Chr22:28695800 [GRCh38] Chr22:29091788 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) | single nucleotide variant | Familial cancer of breast [RCV000197078]|Familial cancer of breast [RCV000764367]|Hereditary cancer-predisposing syndrome [RCV000130543]|not provided [RCV000587712]|not specified [RCV004782245] | Chr22:28689143 [GRCh38] Chr22:29085131 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV001267682]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668792]|Familial cancer of breast [RCV000199638]|Hereditary breast ovarian cancer syndrome [RCV002228315]|Hereditary cancer-predisposing syndrome [RCV000130559]|not provided [RCV000377793] | Chr22:28734443 [GRCh38] Chr22:29130431 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.817G>A (p.Glu273Lys) | single nucleotide variant | Familial cancer of breast [RCV000791974]|Hereditary cancer-predisposing syndrome [RCV000130723] | Chr22:28710035 [GRCh38] Chr22:29106023 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) | single nucleotide variant | CHEK2-related disorder [RCV004532565]|Endometrial carcinoma [RCV001356295]|Familial cancer of breast [RCV000198345]|Familial cancer of breast [RCV000515236]|Hereditary breast ovarian cancer syndrome [RCV002225433]|Hereditary cancer-predisposing syndrome [RCV000130733]|Predisposition to cancer [RCV005055077]|not provided [RCV000589669]|not specified [RCV000855592] | Chr22:28725013 [GRCh38] Chr22:29121001 [GRCh37] Chr22:22q12.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1174G>C (p.Ala392Pro) | single nucleotide variant | Familial cancer of breast [RCV005089643]|Hereditary cancer-predisposing syndrome [RCV000130811] | Chr22:28695795 [GRCh38] Chr22:29091783 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359246]|CHEK2-related disorder [RCV004737222]|Familial cancer of breast [RCV001084280]|Hereditary breast ovarian cancer syndrome [RCV001030618]|Hereditary cancer-predisposing syndrome [RCV000130825]|not provided [RCV000415925]|not specified [RCV000781307] | Chr22:28687932 [GRCh38] Chr22:29083920 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025213]|Familial cancer of breast [RCV000469959]|Familial cancer of breast [RCV000765626]|Familial prostate cancer [RCV005359247]|Hereditary cancer-predisposing syndrome [RCV000130842]|not provided [RCV000589927]|not specified [RCV003493455] | Chr22:28734546 [GRCh38] Chr22:29130534 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) | single nucleotide variant | CHEK2-related disorder [RCV004737223]|Familial cancer of breast [RCV000206362]|Hereditary cancer-predisposing syndrome [RCV000130856]|Hereditary nonpolyposis colon cancer [RCV005359249]|not provided [RCV000222277]|not specified [RCV001818319] | Chr22:28710010 [GRCh38] Chr22:29105998 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.591del (p.Val198fs) | deletion | Breast and/or ovarian cancer [RCV003492607]|CHEK2-related disorder [RCV004544296]|Familial cancer of breast [RCV000204563]|Familial cancer of breast [RCV001814065]|Hereditary breast ovarian cancer syndrome [RCV001175504]|Hereditary cancer-predisposing syndrome [RCV000130949]|Inherited breast cancer and ovarian cancer [RCV005237569]|Malignant tumor of breast [RCV001354068]|not provided [RCV000235159] | Chr22:28724978 [GRCh38] Chr22:29120966 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005235039]|Familial cancer of breast [RCV000412125]|Hereditary breast ovarian cancer syndrome [RCV002225438]|Hereditary cancer-predisposing syndrome [RCV000130990]|Malignant tumor of breast [RCV001356135]|not provided [RCV001573826]|not specified [RCV000248875] | Chr22:28734470 [GRCh38] Chr22:29130458 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001292666]|Familial cancer of breast [RCV000456353]|Hereditary cancer-predisposing syndrome [RCV000131011]|Malignant tumor of breast [RCV001354674]|not provided [RCV000481469] | Chr22:28696943 [GRCh38] Chr22:29092931 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1286A>G (p.Glu429Gly) | single nucleotide variant | Familial cancer of breast [RCV002512545]|Hereditary cancer-predisposing syndrome [RCV000131182] | Chr22:28695216 [GRCh38] Chr22:29091204 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) | single nucleotide variant | CHEK2-related disorder [RCV004532568]|Familial cancer of breast [RCV000233502]|Hereditary cancer-predisposing syndrome [RCV000131183]|Li-Fraumeni syndrome [RCV005359253]|not provided [RCV000212416]|not specified [RCV001818320] | Chr22:28725259 [GRCh38] Chr22:29121247 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798448]|CHEK2-related cancer predisposition [RCV005414462]|Familial cancer of breast [RCV000200637]|Hereditary cancer [RCV004700447]|Hereditary cancer-predisposing syndrome [RCV000131200]|Malignant tumor of breast [RCV001357365]|not provided [RCV000588366]|not specified [RCV001174557] | Chr22:28734715 [GRCh38] Chr22:29130703 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492617]|CHEK2-related cancer predisposition [RCV005416111]|Familial cancer of breast [RCV000232903]|Familial cancer of breast [RCV000764379]|Hereditary breast ovarian cancer syndrome [RCV001374553]|Hereditary cancer-predisposing syndrome [RCV000131219]|Malignant tumor of breast [RCV001355624]|not provided [RCV000212445]|not specified [RCV002465532] | Chr22:28696960 [GRCh38] Chr22:29092948 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) | single nucleotide variant | CHEK2-related disorder [RCV004528858]|Familial cancer of breast [RCV000461003]|Hereditary cancer-predisposing syndrome [RCV000131230]|not provided [RCV000219060] | Chr22:28734661 [GRCh38] Chr22:29130649 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) | single nucleotide variant | Familial cancer of breast [RCV000231753]|Familial cancer of breast [RCV002483267]|Hereditary cancer-predisposing syndrome [RCV000131287]|Hereditary nonpolyposis colon cancer [RCV005365033]|not provided [RCV000212441]|not specified [RCV002271417] | Chr22:28699915 [GRCh38] Chr22:29095903 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.449T>G (p.Val150Gly) | single nucleotide variant | Familial cancer of breast [RCV001057076]|Hereditary cancer-predisposing syndrome [RCV000131390] | Chr22:28725120 [GRCh38] Chr22:29121108 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414464]|CHEK2-related disorder [RCV004737224]|Familial cancer of breast [RCV000204676]|Hereditary cancer-predisposing syndrome [RCV000131415]|Hereditary nonpolyposis colon cancer [RCV005359264]|Predisposition to cancer [RCV001543106]|not provided [RCV000588152]|not specified [RCV003330506] | Chr22:28719415 [GRCh38] Chr22:29115403 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.319+2T>A | single nucleotide variant | Breast cancer, susceptibility to [RCV001258067]|Familial cancer of breast [RCV000515447]|Familial cancer of breast [RCV000545158]|Hereditary cancer-predisposing syndrome [RCV000131434]|Malignant tumor of breast [RCV003492621]|not provided [RCV000212411] | Chr22:28734401 [GRCh38] Chr22:29130389 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359267]|Familial cancer of breast [RCV000233973]|Familial cancer of breast [RCV002492512]|Hereditary cancer-predisposing syndrome [RCV000131443]|not provided [RCV000588204]|not specified [RCV001290447] | Chr22:28687947 [GRCh38] Chr22:29083935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1567C>G (p.Arg523Gly) | single nucleotide variant | Familial cancer of breast [RCV000466042]|Hereditary cancer-predisposing syndrome [RCV000131451] | Chr22:28687962 [GRCh38] Chr22:29083950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) | single nucleotide variant | CHEK2-related disorder [RCV004737225]|Familial cancer of breast [RCV000197451]|Hereditary breast ovarian cancer syndrome [RCV005251078]|Hereditary cancer-predisposing syndrome [RCV000131455]|not provided [RCV002262750] | Chr22:28725072 [GRCh38] Chr22:29121060 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1003G>A (p.Val335Met) | single nucleotide variant | Familial cancer of breast [RCV000469070]|Hereditary cancer-predisposing syndrome [RCV000131459] | Chr22:28699843 [GRCh38] Chr22:29095831 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798451]|Familial cancer of breast [RCV000226721]|Hereditary cancer-predisposing syndrome [RCV000131462]|not provided [RCV000486217] | Chr22:28699897 [GRCh38] Chr22:29095885 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) | single nucleotide variant | Familial cancer of breast [RCV000692534]|Hereditary cancer-predisposing syndrome [RCV000131466]|not provided [RCV000221976] | Chr22:28711997 [GRCh38] Chr22:29107985 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359272]|Familial cancer of breast [RCV000199485]|Hereditary cancer-predisposing syndrome [RCV000131506]|not provided [RCV000487089] | Chr22:28696984 [GRCh38] Chr22:29092972 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) | single nucleotide variant | Familial cancer of breast [RCV000199375]|Hereditary cancer-predisposing syndrome [RCV000131547]|Predisposition to cancer [RCV002292378]|not provided [RCV000759047]|not specified [RCV001192412] | Chr22:28703509 [GRCh38] Chr22:29099497 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) | single nucleotide variant | CHEK2-related disorder [RCV004528859]|Familial cancer of breast [RCV000203702]|Hereditary breast ovarian cancer syndrome [RCV004760393]|Hereditary cancer-predisposing syndrome [RCV000131571]|not provided [RCV000586318]|not specified [RCV001175355] | Chr22:28689188 [GRCh38] Chr22:29085176 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003389239]|CHEK2-related cancer predisposition [RCV005025215]|CHEK2-related disorder [RCV004737226]|Familial cancer of breast [RCV000199653]|Familial cancer of breast [RCV000791342]|Hereditary breast ovarian cancer syndrome [RCV000212433]|Hereditary cancer-predisposing syndrome [RCV000131577]|Predisposition to cancer [RCV003153427]|not provided [RCV000586622] | Chr22:28711994 [GRCh38] Chr22:29107982 [GRCh37] Chr22:22q12.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu) | single nucleotide variant | Familial cancer of breast [RCV000460242]|Hereditary cancer-predisposing syndrome [RCV000131595]|not provided [RCV003441753] | Chr22:28699888 [GRCh38] Chr22:29095876 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005365035]|Familial cancer of breast [RCV000198676]|Familial cancer of breast [RCV000764369]|Hereditary cancer [RCV004700451]|Hereditary cancer-predisposing syndrome [RCV000131614]|not provided [RCV000214263]|not specified [RCV001251282] | Chr22:28689167 [GRCh38] Chr22:29085155 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210071]|Breast carcinoma [RCV001554290]|CHEK2-related cancer predisposition [RCV004776433]|CHEK2-related cancer predisposition [RCV005025216]|Familial cancer of breast [RCV000200030]|Hereditary breast ovarian cancer syndrome [RCV004764770]|Hereditary cancer-predisposing syndrome [RCV000131700]|Hereditary nonpolyposis colon cancer [RCV005359279]|Malignant tumor of breast [RCV003987371]|Predisposition to cancer [RCV002291570]|not provided [RCV000212424] | Chr22:28725070 [GRCh38] Chr22:29121058 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492628]|CHEK2-related cancer predisposition [RCV004776434]|CHEK2-related disorder [RCV004532574]|Familial cancer of breast [RCV000228975]|Familial cancer of breast [RCV000515410]|Hereditary cancer-predisposing syndrome [RCV000131715]|Malignant tumor of breast [RCV001356488]|not provided [RCV000587346]|not specified [RCV000855593] | Chr22:28695753 [GRCh38] Chr22:29091741 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005365036]|Familial cancer of breast [RCV000469852]|Hereditary cancer-predisposing syndrome [RCV000131748]|not provided [RCV000212473]|not specified [RCV003155082] | Chr22:28689151 [GRCh38] Chr22:29085139 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys) | single nucleotide variant | Familial cancer of breast [RCV000819104]|Hereditary cancer-predisposing syndrome [RCV000131781] | Chr22:28725124 [GRCh38] Chr22:29121112 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) | single nucleotide variant | Familial cancer of breast [RCV001222751]|Hereditary cancer-predisposing syndrome [RCV000131787]|not provided [RCV000287814]|not specified [RCV002307405] | Chr22:28696983 [GRCh38] Chr22:29092971 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-2A>G | single nucleotide variant | Familial cancer of breast [RCV000555386]|Hereditary cancer-predisposing syndrome [RCV000131803]|not provided [RCV003884358] | Chr22:28689217 [GRCh38] Chr22:29085205 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) | deletion | Breast and/or ovarian cancer [RCV001798458]|CHEK2-related disorder [RCV004532577]|Familial cancer of breast [RCV000205272]|Familial prostate cancer [RCV005359291]|Gastric cancer [RCV003162590]|Hereditary breast ovarian cancer syndrome [RCV003483509]|Hereditary cancer-predisposing syndrome [RCV000132111]|not provided [RCV000212478]|not specified [RCV002271420] | Chr22:28687962 [GRCh38] Chr22:29083950 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149911]|Familial cancer of breast [RCV001086106]|Hereditary breast ovarian cancer syndrome [RCV001030623]|Hereditary cancer-predisposing syndrome [RCV000132141]|Malignant tumor of breast [RCV001355781]|not provided [RCV000215450]|not specified [RCV000780184] | Chr22:28695752 [GRCh38] Chr22:29091740 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) | duplication | Familial cancer of breast [RCV001064635]|Hereditary cancer-predisposing syndrome [RCV000132173] | Chr22:28689173..28689174 [GRCh38] Chr22:29085161..29085162 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414460]|CHEK2-related disorder [RCV004737213]|Familial cancer of breast [RCV000232015]|Familial cancer of breast [RCV002505102]|Gastric cancer [RCV003162571]|Hereditary breast ovarian cancer syndrome [RCV002225419]|Hereditary cancer-predisposing syndrome [RCV000128901]|Li-Fraumeni syndrome [RCV005406834]|Malignant tumor of breast [RCV001354537]|not provided [RCV000215973]|not specified [RCV001002335] | Chr22:28734439 [GRCh38] Chr22:29130427 [GRCh37] Chr22:22q12.1 |
pathogenic|not provided |
NM_007194.4(CHEK2):c.444+3A>G | single nucleotide variant | CHEK2-related disorder [RCV004737214]|Familial cancer of breast [RCV000231163]|Hereditary cancer-predisposing syndrome [RCV000128944]|Malignant tumor of breast [RCV001355288]|not provided [RCV000578769] | Chr22:28725240 [GRCh38] Chr22:29121228 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.684T>C (p.Ser228=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000128956] | Chr22:28712017 [GRCh38] Chr22:29108005 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1542+11T>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005235035]|Familial cancer of breast [RCV000410734]|Hereditary breast ovarian cancer syndrome [RCV002225422]|Hereditary cancer-predisposing syndrome [RCV000129000]|Malignant tumor of breast [RCV001357010]|not provided [RCV000985701]|not specified [RCV000679677] | Chr22:28689124 [GRCh38] Chr22:29085112 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) | single nucleotide variant | CHEK2-related disorder [RCV004532543]|Familial cancer of breast [RCV000206722]|Hereditary cancer-predisposing syndrome [RCV000129028]|not provided [RCV000481035] | Chr22:28719417 [GRCh38] Chr22:29115405 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492584]|Familial cancer of breast [RCV000230444]|Hereditary cancer [RCV005229957]|Hereditary cancer-predisposing syndrome [RCV000129111]|Malignant tumor of breast [RCV001354094]|not provided [RCV000656836]|not specified [RCV001192414] | Chr22:28687968 [GRCh38] Chr22:29083956 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.247del (p.Gln83fs) | deletion | Breast and/or ovarian cancer [RCV003149913]|Familial cancer of breast [RCV000204969]|Hereditary breast ovarian cancer syndrome [RCV003987373]|Hereditary cancer-predisposing syndrome [RCV000132293]|not provided [RCV000220709] | Chr22:28734475 [GRCh38] Chr22:29130463 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414465]|Familial cancer of breast [RCV001048097]|Hereditary breast ovarian cancer syndrome [RCV001030622]|Hereditary cancer-predisposing syndrome [RCV000132369]|not specified [RCV001193683] | Chr22:28695237 [GRCh38] Chr22:29091225 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) | single nucleotide variant | Familial cancer of breast [RCV000203988]|Hereditary cancer-predisposing syndrome [RCV000132380]|not provided [RCV000212431]|not specified [RCV003235060] | Chr22:28719470 [GRCh38] Chr22:29115458 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) | single nucleotide variant | CHEK2-related disorder [RCV004532582]|Familial cancer of breast [RCV000205294]|Hereditary cancer-predisposing syndrome [RCV000132390]|not provided [RCV000216008]|not specified [RCV004782248] | Chr22:28695816 [GRCh38] Chr22:29091804 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-1G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000132412] | Chr22:28725125 [GRCh38] Chr22:29121113 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1096-4T>C | single nucleotide variant | Familial cancer of breast [RCV000412166]|Hereditary cancer-predisposing syndrome [RCV000132429]|not provided [RCV000590391]|not specified [RCV005406842] | Chr22:28695877 [GRCh38] Chr22:29091865 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.592+3A>T | single nucleotide variant | Breast carcinoma [RCV001554293]|CHEK2-related cancer predisposition [RCV004760396]|CHEK2-related cancer predisposition [RCV004796033]|CHEK2-related disorder [RCV004532583]|Familial cancer of breast [RCV000228472]|Familial cancer of breast [RCV001171462]|Hereditary breast ovarian cancer syndrome [RCV002468934]|Hereditary cancer-predisposing syndrome [RCV000132447]|Malignant tumor of breast [RCV004551270]|Prostate cancer [RCV003334383]|not provided [RCV000656830] | Chr22:28724974 [GRCh38] Chr22:29120962 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_007194.4(CHEK2):c.*5C>T | single nucleotide variant | Familial cancer of breast [RCV005246661]|Hereditary cancer-predisposing syndrome [RCV000129171]|not provided [RCV001357135] | Chr22:28687892 [GRCh38] Chr22:29083880 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV003149888]|Familial cancer of breast [RCV000536468]|Hereditary cancer-predisposing syndrome [RCV000129197]|not provided [RCV000212420] | Chr22:28725118 [GRCh38] Chr22:29121106 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) | single nucleotide variant | Familial cancer of breast [RCV000227256]|Familial cancer of breast [RCV000765620]|Hereditary breast ovarian cancer syndrome [RCV001030685]|Hereditary cancer-predisposing syndrome [RCV000129204]|Hereditary nonpolyposis colon cancer [RCV005359200]|not provided [RCV000214585]|not specified [RCV001201286] | Chr22:28711946 [GRCh38] Chr22:29107934 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001292616]|CHEK2-related cancer predisposition [RCV005031636]|CHEK2-related disorder [RCV004737215]|Familial cancer of breast [RCV000205087]|Hereditary cancer-predisposing syndrome [RCV000129205]|not provided [RCV000590667]|not specified [RCV001731481] | Chr22:28711974 [GRCh38] Chr22:29107962 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798435]|CHEK2-related cancer predisposition [RCV005003487]|CHEK2-related disorder [RCV004528849]|Familial cancer of breast [RCV000206213]|Hereditary cancer-predisposing syndrome [RCV000129213]|Li-Fraumeni syndrome [RCV005365016]|not provided [RCV000590757]|not specified [RCV000212468] | Chr22:28694042 [GRCh38] Chr22:29090030 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) | single nucleotide variant | CHEK2-related disorder [RCV004737216]|Familial cancer of breast [RCV000227000]|Familial cancer of breast [RCV000764375]|Hereditary cancer-predisposing syndrome [RCV000129242]|Malignant tumor of breast [RCV001354869]|not provided [RCV000212452]|not specified [RCV000781303] | Chr22:28695828 [GRCh38] Chr22:29091816 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) | single nucleotide variant | Familial cancer of breast [RCV000690552]|Familial prostate cancer [RCV005359203]|Hereditary cancer-predisposing syndrome [RCV000129252]|not provided [RCV003237736]|not specified [RCV003320459] | Chr22:28734649 [GRCh38] Chr22:29130637 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) | single nucleotide variant | Breast and/or ovarian cancer [RCV003492589]|CHEK2-related cancer predisposition [RCV005025207]|CHEK2-related disorder [RCV004532549]|Familial cancer of breast [RCV000228412]|Hereditary cancer-predisposing syndrome [RCV000129321]|not provided [RCV000212479]|not specified [RCV003235052] | Chr22:28687962 [GRCh38] Chr22:29083950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) | single nucleotide variant | CHEK2-related disorder [RCV004528850]|Familial cancer of breast [RCV000206734]|Familial cancer of breast [RCV002483259]|Hereditary breast ovarian cancer syndrome [RCV004760388]|Hereditary cancer-predisposing syndrome [RCV000129382]|Malignant tumor of breast [RCV001356630]|not provided [RCV000212464]|not specified [RCV000781308] | Chr22:28694070 [GRCh38] Chr22:29090058 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) | deletion | CHEK2-related cancer predisposition [RCV005394470]|Familial cancer of breast [RCV000205993]|Hereditary cancer-predisposing syndrome [RCV000129505]|not provided [RCV000235161] | Chr22:28687933 [GRCh38] Chr22:29083921 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003493452]|CHEK2-related cancer predisposition [RCV005025208]|Familial cancer of breast [RCV000206654]|Hereditary breast ovarian cancer syndrome [RCV003483495]|Hereditary cancer-predisposing syndrome [RCV000129508]|Malignant tumor of breast [RCV001357703]|not provided [RCV000589481]|not specified [RCV001175352] | Chr22:28695794 [GRCh38] Chr22:29091782 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.444+5G>A | single nucleotide variant | Familial cancer of breast [RCV000206661]|Hereditary cancer-predisposing syndrome [RCV000129580] | Chr22:28725238 [GRCh38] Chr22:29121226 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000129584]|not specified [RCV000781296] | Chr22:28719469 [GRCh38] Chr22:29115457 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) | single nucleotide variant | Familial cancer of breast [RCV000195906]|Hereditary cancer-predisposing syndrome [RCV000129647]|not provided [RCV003321510] | Chr22:28734571 [GRCh38] Chr22:29130559 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu) | single nucleotide variant | Familial cancer of breast [RCV001366669]|Hereditary cancer-predisposing syndrome [RCV001180800] | Chr22:28695715 [GRCh38] Chr22:29091703 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025209]|Familial cancer of breast [RCV000461401]|Hereditary breast ovarian cancer syndrome [RCV003993818]|Hereditary cancer-predisposing syndrome [RCV000129786]|not provided [RCV000480654]|not specified [RCV000780181] | Chr22:28725084 [GRCh38] Chr22:29121072 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414461]|Familial cancer of breast [RCV000206197]|Familial cancer of breast [RCV002492498]|Hereditary cancer-predisposing syndrome [RCV000129822]|Li-Fraumeni syndrome [RCV005359215]|not provided [RCV000235158]|not specified [RCV003320460] | Chr22:28725253 [GRCh38] Chr22:29121241 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu) | single nucleotide variant | Familial cancer of breast [RCV000204150]|Hereditary cancer-predisposing syndrome [RCV000129825]|not provided [RCV005416327]|not specified [RCV001800430] | Chr22:28734415 [GRCh38] Chr22:29130403 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+1G>A | single nucleotide variant | Familial cancer of breast [RCV000546023]|Hereditary cancer-predisposing syndrome [RCV000129866]|not provided [RCV002225428] | Chr22:28703504 [GRCh38] Chr22:29099492 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) | single nucleotide variant | Familial cancer of breast [RCV000763478]|Familial cancer of breast [RCV001247758]|Hereditary cancer-predisposing syndrome [RCV000129876]|Predisposition to cancer [RCV005055075]|not provided [RCV004998264] | Chr22:28734506 [GRCh38] Chr22:29130494 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) | single nucleotide variant | Familial cancer of breast [RCV000462062]|Hereditary cancer-predisposing syndrome [RCV000129884]|not provided [RCV000212481]|not specified [RCV003323409] | Chr22:28687938 [GRCh38] Chr22:29083926 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1 | copy number loss | See cases [RCV000135356] | Chr22:27972484..28760350 [GRCh38] Chr22:28368472..29156338 [GRCh37] Chr22:26698472..27486338 [NCBI36] Chr22:22q12.1 |
pathogenic |
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 | copy number gain | See cases [RCV000138172] | Chr22:23279231..36247369 [GRCh38] Chr22:23621418..36643415 [GRCh37] Chr22:21951418..34973361 [NCBI36] Chr22:22q11.23-12.3 |
pathogenic |
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 | copy number gain | See cases [RCV000137926] | Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q12.1(chr22:28669349-28727009)x3 | copy number gain | See cases [RCV000142125] | Chr22:28669349..28727009 [GRCh38] Chr22:29065337..29122997 [GRCh37] Chr22:27395337..27452997 [NCBI36] Chr22:22q12.1 |
uncertain significance |
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 | copy number loss | See cases [RCV000143415] | Chr22:26451042..31451926 [GRCh38] Chr22:26847008..31847912 [GRCh37] Chr22:25177008..30177912 [NCBI36] Chr22:22q12.1-12.2 |
pathogenic |
GRCh38/hg38 22q12.1(chr22:28649631-28727009)x3 | copy number gain | See cases [RCV000143717] | Chr22:28649631..28727009 [GRCh38] Chr22:29045619..29122997 [GRCh37] Chr22:27375619..27452997 [NCBI36] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005031673]|Familial cancer of breast [RCV001850265]|Hereditary cancer-predisposing syndrome [RCV001025772]|not provided [RCV000160427] | Chr22:28712012 [GRCh38] Chr22:29108000 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3 | copy number gain | See cases [RCV000139107] | Chr22:28441053..28819615 [GRCh38] Chr22:28837041..29215603 [GRCh37] Chr22:27167041..27545603 [NCBI36] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) | single nucleotide variant | Familial cancer of breast [RCV000198019]|Hereditary cancer-predisposing syndrome [RCV000160423]|not provided [RCV000212413] | Chr22:28725365 [GRCh38] Chr22:29121353 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg) | single nucleotide variant | Familial cancer of breast [RCV002515114]|not provided [RCV000160424] | Chr22:28725111 [GRCh38] Chr22:29121099 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) | single nucleotide variant | Familial cancer of breast [RCV000467058]|Hereditary cancer-predisposing syndrome [RCV000571351]|not provided [RCV000160425]|not specified [RCV000780180] | Chr22:28725087 [GRCh38] Chr22:29121075 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) | single nucleotide variant | Breast and/or ovarian cancer [RCV001270937]|CHEK2-related cancer predisposition [RCV003493466]|Familial cancer of breast [RCV000475670]|Hereditary cancer-predisposing syndrome [RCV000213298]|not provided [RCV000160426] | Chr22:28725066 [GRCh38] Chr22:29121054 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) | single nucleotide variant | Familial cancer of breast [RCV000793724]|Hereditary cancer-predisposing syndrome [RCV000575022]|not provided [RCV000160428]|not specified [RCV004596079] | Chr22:28711914 [GRCh38] Chr22:29107902 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.793-1G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005394552]|Familial cancer of breast [RCV000464029]|Familial cancer of breast [RCV002498796]|Hereditary breast ovarian cancer syndrome [RCV005055649]|Hereditary cancer-predisposing syndrome [RCV000214915]|not provided [RCV000160429] | Chr22:28710060 [GRCh38] Chr22:29106048 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414469]|Familial cancer of breast [RCV000203780]|Hereditary cancer-predisposing syndrome [RCV000160430]|Hereditary nonpolyposis colon cancer [RCV005359363]|Predisposition to cancer [RCV004786437]|not provided [RCV000656833]|not specified [RCV001844056] | Chr22:28696959 [GRCh38] Chr22:29092947 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) | single nucleotide variant | Familial cancer of breast [RCV000205583]|Hereditary cancer-predisposing syndrome [RCV000221549]|not provided [RCV000160431] | Chr22:28696957 [GRCh38] Chr22:29092945 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu) | single nucleotide variant | Familial cancer of breast [RCV000557927]|Hereditary cancer-predisposing syndrome [RCV000574744]|not provided [RCV000160432] | Chr22:28696951 [GRCh38] Chr22:29092939 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys) | single nucleotide variant | Familial cancer of breast [RCV000461871]|Hereditary cancer-predisposing syndrome [RCV002444665]|not provided [RCV000160433] | Chr22:28695833 [GRCh38] Chr22:29091821 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) | single nucleotide variant | Familial cancer of breast [RCV000704401]|Familial cancer of breast [RCV000764374]|Hereditary cancer-predisposing syndrome [RCV000576132]|not provided [RCV000160434] | Chr22:28695791 [GRCh38] Chr22:29091779 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) | single nucleotide variant | CHEK2-related disorder [RCV004737254]|Familial cancer of breast [RCV000465621]|Familial cancer of breast [RCV003483527]|Hereditary cancer-predisposing syndrome [RCV000567169]|Hereditary nonpolyposis colon cancer [RCV005359364]|not provided [RCV000588012] | Chr22:28695237 [GRCh38] Chr22:29091225 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp) | single nucleotide variant | Familial cancer of breast [RCV001058998]|Hereditary cancer-predisposing syndrome [RCV005318336]|not provided [RCV000160436] | Chr22:28695235 [GRCh38] Chr22:29091223 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met) | single nucleotide variant | Familial cancer of breast [RCV001850266]|Hereditary cancer-predisposing syndrome [RCV005328218]|not provided [RCV000160438] | Chr22:28694088 [GRCh38] Chr22:29090076 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) | single nucleotide variant | Familial cancer of breast [RCV000538234]|Hereditary cancer-predisposing syndrome [RCV000160439]|not provided [RCV000212467] | Chr22:28694043 [GRCh38] Chr22:29090031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) | single nucleotide variant | Familial cancer of breast [RCV000205886]|Hereditary cancer-predisposing syndrome [RCV000213437]|Malignant tumor of breast [RCV001356202]|not provided [RCV000160440]|not specified [RCV002265635] | Chr22:28689176 [GRCh38] Chr22:29085164 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) | single nucleotide variant | Familial cancer of breast [RCV000476991]|Hereditary breast ovarian cancer syndrome [RCV001030619]|Hereditary cancer-predisposing syndrome [RCV000160441]|not provided [RCV000212471]|not specified [RCV001193688] | Chr22:28689164 [GRCh38] Chr22:29085152 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) | single nucleotide variant | Familial cancer of breast [RCV000536005]|Hereditary cancer-predisposing syndrome [RCV000218861]|not provided [RCV000160442]|not specified [RCV001824646] | Chr22:28687926 [GRCh38] Chr22:29083914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-10C>T | single nucleotide variant | not provided [RCV000160443] | Chr22:28741772 [GRCh38] Chr22:29137760 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) | single nucleotide variant | Familial cancer of breast [RCV000539309]|Hereditary cancer-predisposing syndrome [RCV000562294]|not provided [RCV000160444] | Chr22:28734576 [GRCh38] Chr22:29130564 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) | single nucleotide variant | Familial cancer of breast [RCV000197274]|Familial cancer of breast [RCV000515427]|Hereditary cancer-predisposing syndrome [RCV000219585]|not provided [RCV000160445]|not specified [RCV001193687] | Chr22:28734552 [GRCh38] Chr22:29130540 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) | single nucleotide variant | Familial cancer of breast [RCV000234730]|Hereditary cancer-predisposing syndrome [RCV001013876]|not provided [RCV000160446] | Chr22:28734526 [GRCh38] Chr22:29130514 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) | single nucleotide variant | Familial cancer of breast [RCV000205700]|Hereditary cancer-predisposing syndrome [RCV000160447]|Malignant tumor of breast [RCV001354516]|not provided [RCV000212409] | Chr22:28734445 [GRCh38] Chr22:29130433 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+5G>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025242]|Familial cancer of breast [RCV001350944]|not provided [RCV000160448] | Chr22:28734398 [GRCh38] Chr22:29130386 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.405del (p.Lys135fs) | deletion | Familial cancer of breast [RCV000206058]|Hereditary cancer-predisposing syndrome [RCV000567447]|not provided [RCV000160449] | Chr22:28725282 [GRCh38] Chr22:29121270 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) | duplication | CHEK2-related cancer predisposition [RCV005394553]|CHEK2-related cancer predisposition [RCV005414470]|CHEK2-related disorder [RCV004535041]|Familial cancer of breast [RCV000473927]|Hereditary cancer-predisposing syndrome [RCV000160450]|not provided [RCV000212460] | Chr22:28695133..28695134 [GRCh38] Chr22:29091121..29091122 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414471]|Congenital heart defects, multiple types, 3 [RCV001007871]|Familial cancer of breast [RCV000229303]|Familial cancer of breast [RCV000763477]|Gastric cancer [RCV003162676]|Hereditary breast ovarian cancer syndrome [RCV001526967]|Hereditary cancer-predisposing syndrome [RCV000160452]|not provided [RCV000254656] | Chr22:28725278 [GRCh38] Chr22:29121266 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) | single nucleotide variant | Familial cancer of breast [RCV000559596]|Hereditary cancer-predisposing syndrome [RCV001804883]|not provided [RCV000160453] | Chr22:28695146 [GRCh38] Chr22:29091134 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp) | single nucleotide variant | Familial cancer of breast [RCV001322030]|Hereditary cancer-predisposing syndrome [RCV001021975]|not provided [RCV000160454] | Chr22:28725272 [GRCh38] Chr22:29121260 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004948198]|not provided [RCV000160455] | Chr22:28725028 [GRCh38] Chr22:29121016 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) | single nucleotide variant | Familial cancer of breast [RCV000458835]|Hereditary cancer-predisposing syndrome [RCV000570974]|not provided [RCV000160456] | Chr22:28719480 [GRCh38] Chr22:29115468 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) | single nucleotide variant | Familial cancer of breast [RCV000230102]|Familial cancer of breast [RCV000765617]|Hereditary cancer-predisposing syndrome [RCV000160457]|not provided [RCV000212444] | Chr22:28696972 [GRCh38] Chr22:29092960 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe) | single nucleotide variant | Familial cancer of breast [RCV000705064]|Hereditary cancer-predisposing syndrome [RCV001017370]|not provided [RCV000160458] | Chr22:28695854 [GRCh38] Chr22:29091842 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1260-10C>G | single nucleotide variant | Breast and/or ovarian cancer [RCV003149974]|Familial cancer of breast [RCV000199374]|Hereditary cancer-predisposing syndrome [RCV000581114]|not provided [RCV001528944]|not specified [RCV000160459] | Chr22:28695252 [GRCh38] Chr22:29091240 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1462-7C>G | single nucleotide variant | Breast and/or ovarian cancer [RCV001798551]|CHEK2-related cancer predisposition [RCV005394554]|Familial cancer of breast [RCV000203819]|Hereditary cancer-predisposing syndrome [RCV000776283]|not provided [RCV002510799]|not specified [RCV000160460] | Chr22:28689222 [GRCh38] Chr22:29085210 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.3:c.-10_c.-9insC | insertion | Hereditary cancer-predisposing syndrome [RCV000160451] | Chr22:22q12.1 | uncertain significance |
NM_007194.4(CHEK2):c.*2dup | duplication | Familial cancer of breast [RCV005246708]|Hereditary cancer-predisposing syndrome [RCV000164412]|Hereditary nonpolyposis colon cancer [RCV005359472]|not provided [RCV001675647]|not specified [RCV001193682] | Chr22:28687894..28687895 [GRCh38] Chr22:29083882..29083883 [GRCh37] Chr22:22q12.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu) | single nucleotide variant | Familial cancer of breast [RCV000635790]|Hereditary cancer-predisposing syndrome [RCV000164415]|not provided [RCV001753556] | Chr22:28711944 [GRCh38] Chr22:29107932 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-1G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414472]|Familial cancer of breast [RCV000698566]|Hereditary breast ovarian cancer syndrome [RCV005411360]|Hereditary cancer-predisposing syndrome [RCV000164426]|not specified [RCV003320461] | Chr22:28695243 [GRCh38] Chr22:29091231 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.775G>A (p.Gly259Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164454] | Chr22:28711926 [GRCh38] Chr22:29107914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.902del (p.Leu301fs) | deletion | CHEK2-related cancer predisposition [RCV005025255]|Colorectal cancer [RCV002463654]|Familial cancer of breast [RCV000576741]|Hereditary cancer-predisposing syndrome [RCV000164458]|not provided [RCV000479231] | Chr22:28703511 [GRCh38] Chr22:29099499 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.846+5G>T | single nucleotide variant | Familial cancer of breast [RCV001850299]|Hereditary cancer-predisposing syndrome [RCV000164475] | Chr22:28710001 [GRCh38] Chr22:29105989 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) | deletion | Familial cancer of breast [RCV000226984]|Hereditary cancer-predisposing syndrome [RCV000164545]|not provided [RCV000482135] | Chr22:28689188 [GRCh38] Chr22:29085176 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) | single nucleotide variant | Familial cancer of breast [RCV000456536]|Hereditary cancer-predisposing syndrome [RCV000164598]|Li-Fraumeni syndrome [RCV005359483]|Predisposition to cancer [RCV002254686]|not provided [RCV001800484]|not specified [RCV002281981] | Chr22:28687967 [GRCh38] Chr22:29083955 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) | single nucleotide variant | Familial cancer of breast [RCV000230884]|Hereditary cancer-predisposing syndrome [RCV000164612]|not specified [RCV002465548] | Chr22:28689183 [GRCh38] Chr22:29085171 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) | single nucleotide variant | Familial cancer of breast [RCV000532130]|Hereditary cancer-predisposing syndrome [RCV000164779]|not provided [RCV000424411] | Chr22:28696985 [GRCh38] Chr22:29092973 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1097T>C (p.Ile366Thr) | single nucleotide variant | Familial cancer of breast [RCV001300412]|Hereditary cancer-predisposing syndrome [RCV000164815] | Chr22:28695872 [GRCh38] Chr22:29091860 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp) | single nucleotide variant | Familial cancer of breast [RCV000556493]|Hereditary cancer-predisposing syndrome [RCV000164852]|not provided [RCV004589758] | Chr22:28695787 [GRCh38] Chr22:29091775 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NG_008150.2(CHEK2):g.4991A>G | single nucleotide variant | not provided [RCV000114760] | Chr22:28741876 [GRCh38] Chr22:29137864 [GRCh37] Chr22:22q12.1 |
not provided |
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414476]|Familial cancer of breast [RCV000200524]|Hereditary cancer-predisposing syndrome [RCV000166779]|Malignant tumor of breast [RCV001357581]|not provided [RCV000657065] | Chr22:28712013 [GRCh38] Chr22:29108001 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.664A>G (p.Met222Val) | single nucleotide variant | Familial cancer of breast [RCV000204804]|Hereditary cancer-predisposing syndrome [RCV000166790]|not provided [RCV002273967] | Chr22:28719414 [GRCh38] Chr22:29115402 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) | single nucleotide variant | Familial cancer of breast [RCV000688703]|Hereditary cancer-predisposing syndrome [RCV000166803]|not provided [RCV001531540] | Chr22:28725000 [GRCh38] Chr22:29120988 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) | single nucleotide variant | Familial cancer of breast [RCV000525941]|Hereditary cancer-predisposing syndrome [RCV000166812]|not provided [RCV000481159]|not specified [RCV001804895] | Chr22:28694046 [GRCh38] Chr22:29090034 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.889T>G (p.Tyr297Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000166914] | Chr22:28703524 [GRCh38] Chr22:29099512 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025257]|Familial cancer of breast [RCV000558452]|Hereditary cancer-predisposing syndrome [RCV000164888] | Chr22:28734690 [GRCh38] Chr22:29130678 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1453T>C (p.Trp485Arg) | single nucleotide variant | Familial cancer of breast [RCV001850308]|Hereditary cancer-predisposing syndrome [RCV000164961] | Chr22:28694040 [GRCh38] Chr22:29090028 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164963]|not provided [RCV000485288] | Chr22:28725328 [GRCh38] Chr22:29121316 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe) | single nucleotide variant | Familial cancer of breast [RCV000804316]|Hereditary cancer-predisposing syndrome [RCV000164976]|not provided [RCV000483894] | Chr22:28699937 [GRCh38] Chr22:29095925 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) | duplication | Familial cancer of breast [RCV001215060]|Hereditary breast ovarian cancer syndrome [RCV001201228]|Hereditary cancer-predisposing syndrome [RCV000164995]|Hereditary nonpolyposis colon cancer [RCV005359492]|not provided [RCV003477612] | Chr22:28719413..28719414 [GRCh38] Chr22:29115401..29115402 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) | single nucleotide variant | Familial cancer of breast [RCV000818452]|Hereditary cancer-predisposing syndrome [RCV000167008]|not provided [RCV002254913]|not specified [RCV000781297] | Chr22:28696983 [GRCh38] Chr22:29092971 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+1G>T | single nucleotide variant | Familial cancer of breast [RCV000204794]|Hereditary cancer-predisposing syndrome [RCV000167053]|Malignant tumor of breast [RCV001358419]|not provided [RCV000216702] | Chr22:28719394 [GRCh38] Chr22:29115382 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.282T>C (p.Ala94=) | single nucleotide variant | Familial cancer of breast [RCV002053972]|Hereditary cancer-predisposing syndrome [RCV000165009] | Chr22:28734440 [GRCh38] Chr22:29130428 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) | deletion | Familial cancer of breast [RCV000234361]|Hereditary cancer-predisposing syndrome [RCV000165099]|not provided [RCV000215708] | Chr22:28687966 [GRCh38] Chr22:29083954 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.347G>A (p.Gly116Glu) | single nucleotide variant | Familial cancer of breast [RCV000461749]|Hereditary cancer-predisposing syndrome [RCV000165141] | Chr22:28725340 [GRCh38] Chr22:29121328 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1052A>G (p.Glu351Gly) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005365094]|Familial cancer of breast [RCV001850361]|Hereditary cancer-predisposing syndrome [RCV000167117] | Chr22:28696944 [GRCh38] Chr22:29092932 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val) | single nucleotide variant | Familial cancer of breast [RCV003607251]|Hereditary cancer-predisposing syndrome [RCV000165218]|not specified [RCV001526935] | Chr22:28719477 [GRCh38] Chr22:29115465 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) | single nucleotide variant | Familial cancer of breast [RCV000204014]|Hereditary breast ovarian cancer syndrome [RCV004764774]|Hereditary cancer-predisposing syndrome [RCV000165259]|not provided [RCV001284137] | Chr22:28695851 [GRCh38] Chr22:29091839 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) | single nucleotide variant | Familial cancer of breast [RCV000547218]|Hereditary cancer-predisposing syndrome [RCV000162615]|not provided [RCV001357567]|not specified [RCV005417980] | Chr22:28725098 [GRCh38] Chr22:29121086 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.655del (p.Glu219fs) | deletion | Breast and/or ovarian cancer [RCV001798587]|Familial cancer of breast [RCV000545663]|Hereditary breast ovarian cancer syndrome [RCV001192408]|Hereditary cancer-predisposing syndrome [RCV000165339]|not provided [RCV000657336] | Chr22:28719423 [GRCh38] Chr22:29115411 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.925C>G (p.Leu309Val) | single nucleotide variant | Familial cancer of breast [RCV001232050]|Hereditary cancer-predisposing syndrome [RCV000165368] | Chr22:28699921 [GRCh38] Chr22:29095909 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025260]|Familial cancer of breast [RCV000206006]|Hereditary cancer-predisposing syndrome [RCV000165429]|See cases [RCV001537852]|not provided [RCV000658932]|not specified [RCV001175503] | Chr22:28725094 [GRCh38] Chr22:29121082 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) | single nucleotide variant | Familial cancer of breast [RCV000412045]|Hereditary cancer-predisposing syndrome [RCV000162678]|Hereditary nonpolyposis colon cancer [RCV005359399]|not provided [RCV001711324]|not specified [RCV001174909] | Chr22:28725095 [GRCh38] Chr22:29121083 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=) | single nucleotide variant | Familial cancer of breast [RCV002516442]|Hereditary cancer-predisposing syndrome [RCV000162701] | Chr22:28694101 [GRCh38] Chr22:29090089 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=) | single nucleotide variant | Familial cancer of breast [RCV000534899]|Hereditary cancer-predisposing syndrome [RCV000162733] | Chr22:28696933 [GRCh38] Chr22:29092921 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) | single nucleotide variant | Familial cancer of breast [RCV001226286]|Hereditary cancer-predisposing syndrome [RCV000162769]|not specified [RCV001420739] | Chr22:28689178 [GRCh38] Chr22:29085166 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) | single nucleotide variant | Familial cancer of breast [RCV001082881]|Hereditary cancer-predisposing syndrome [RCV000162779]|not provided [RCV000587121]|not specified [RCV000855557] | Chr22:28725095 [GRCh38] Chr22:29121083 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) | deletion | Familial cancer of breast [RCV000458226]|Hereditary cancer-predisposing syndrome [RCV000165489]|Li-Fraumeni syndrome [RCV000588604]|not provided [RCV000222773] | Chr22:28694059 [GRCh38] Chr22:29090047 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798591]|CHEK2-related cancer predisposition [RCV005025261]|Familial cancer of breast [RCV000474346]|Hereditary cancer-predisposing syndrome [RCV000165492]|Malignant tumor of breast [RCV001355507]|not provided [RCV000347424]|not specified [RCV001818381] | Chr22:28696905 [GRCh38] Chr22:29092893 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile) | single nucleotide variant | Familial cancer of breast [RCV003765033]|Hereditary cancer-predisposing syndrome [RCV000165583] | Chr22:28725012 [GRCh38] Chr22:29121000 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) | single nucleotide variant | Familial cancer of breast [RCV000475798]|Hereditary cancer-predisposing syndrome [RCV000162782]|not provided [RCV001704158]|not specified [RCV000426763] | Chr22:28719427 [GRCh38] Chr22:29115415 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) | single nucleotide variant | Familial cancer of breast [RCV000410591]|Hereditary cancer-predisposing syndrome [RCV000162813]|not provided [RCV001706070]|not specified [RCV000506278] | Chr22:28695215 [GRCh38] Chr22:29091203 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1608A>G (p.Pro536=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163047] | Chr22:28687921 [GRCh38] Chr22:29083909 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) | single nucleotide variant | Familial cancer of breast [RCV000199430]|Hereditary cancer-predisposing syndrome [RCV000163051]|Malignant tumor of breast [RCV001356728]|not specified [RCV000426752] | Chr22:28696973 [GRCh38] Chr22:29092961 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.296T>C (p.Leu99Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000163059] | Chr22:28734426 [GRCh38] Chr22:29130414 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) | single nucleotide variant | Familial cancer of breast [RCV001080248]|Hereditary breast ovarian cancer syndrome [RCV002225475]|Hereditary cancer-predisposing syndrome [RCV000163080]|Malignant tumor of breast [RCV001358565]|not provided [RCV000759041]|not specified [RCV000780178] | Chr22:28695793 [GRCh38] Chr22:29091781 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) | single nucleotide variant | Breast and/or ovarian cancer [RCV003491916]|Familial cancer of breast [RCV000704137]|Hereditary cancer-predisposing syndrome [RCV000167229]|not provided [RCV004546445]|not specified [RCV000780187] | Chr22:28710055 [GRCh38] Chr22:29106043 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly) | single nucleotide variant | Familial cancer of breast [RCV000700163]|Hereditary cancer-predisposing syndrome [RCV000167254]|not provided [RCV001753573] | Chr22:28725123 [GRCh38] Chr22:29121111 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1040A>T (p.Asp347Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000165604] | Chr22:28696956 [GRCh38] Chr22:29092944 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414474]|Familial cancer of breast [RCV000550320]|Hereditary cancer-predisposing syndrome [RCV000165608]|not provided [RCV000585949] | Chr22:28695755 [GRCh38] Chr22:29091743 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.600C>G (p.Val200=) | single nucleotide variant | Familial cancer of breast [RCV000228022]|Hereditary cancer-predisposing syndrome [RCV000165638]|not provided [RCV001721074]|not specified [RCV003320129] | Chr22:28719478 [GRCh38] Chr22:29115466 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.592+4A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005031684]|Familial cancer of breast [RCV000231464]|Hereditary cancer-predisposing syndrome [RCV000165665]|Malignant tumor of breast [RCV001356770]|not provided [RCV000482777]|not specified [RCV001532913] | Chr22:28724973 [GRCh38] Chr22:29120961 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) | single nucleotide variant | CHEK2-related disorder [RCV004535116]|Familial cancer of breast [RCV000465926]|Hereditary cancer-predisposing syndrome [RCV000165714]|not provided [RCV000657048]|not specified [RCV005237622] | Chr22:28699936 [GRCh38] Chr22:29095924 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) | single nucleotide variant | Familial cancer of breast [RCV000197690]|Hereditary cancer-predisposing syndrome [RCV000163193]|not specified [RCV000441069] | Chr22:28687966 [GRCh38] Chr22:29083954 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359412]|Familial cancer of breast [RCV000410420]|Hereditary cancer-predisposing syndrome [RCV000163198]|not provided [RCV001721039]|not specified [RCV004767100] | Chr22:28724996 [GRCh38] Chr22:29120984 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359413]|Familial cancer of breast [RCV000474482]|Hereditary cancer-predisposing syndrome [RCV000163217]|not provided [RCV001800477]|not specified [RCV000781301] | Chr22:28687948 [GRCh38] Chr22:29083936 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1290T>C (p.His430=) | single nucleotide variant | Familial cancer of breast [RCV000990386]|Hereditary cancer-predisposing syndrome [RCV000163218] | Chr22:28695212 [GRCh38] Chr22:29091200 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=) | single nucleotide variant | Familial cancer of breast [RCV002053946]|Hereditary cancer-predisposing syndrome [RCV000163253]|Hereditary nonpolyposis colon cancer [RCV005365066] | Chr22:28695793 [GRCh38] Chr22:29091781 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) | single nucleotide variant | Familial cancer of breast [RCV005246687]|Hereditary cancer-predisposing syndrome [RCV000163254]|not provided [RCV003422056]|not specified [RCV000507670] | Chr22:28687963 [GRCh38] Chr22:29083951 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1377T>A (p.Ala459=) | single nucleotide variant | Familial cancer of breast [RCV005246688]|Hereditary cancer-predisposing syndrome [RCV000163291] | Chr22:28694116 [GRCh38] Chr22:29090104 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) | single nucleotide variant | Familial cancer of breast [RCV001087753]|Hereditary cancer-predisposing syndrome [RCV000163325]|not provided [RCV000679678]|not specified [RCV001800478] | Chr22:28734716 [GRCh38] Chr22:29130704 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala) | single nucleotide variant | Familial cancer of breast [RCV000820411]|Hereditary cancer-predisposing syndrome [RCV000167316]|not provided [RCV000586115] | Chr22:28725055 [GRCh38] Chr22:29121043 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.129C>T (p.Thr43=) | single nucleotide variant | Familial cancer of breast [RCV001437172]|Hereditary cancer-predisposing syndrome [RCV000165762]|not specified [RCV000611853] | Chr22:28734593 [GRCh38] Chr22:29130581 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.322T>A (p.Cys108Ser) | single nucleotide variant | Familial cancer of breast [RCV001049058]|Hereditary cancer-predisposing syndrome [RCV000165829] | Chr22:28725365 [GRCh38] Chr22:29121353 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) | single nucleotide variant | Familial cancer of breast [RCV001086645]|Hereditary cancer-predisposing syndrome [RCV000163350]|Li-Fraumeni syndrome [RCV005359420]|not provided [RCV000587452]|not specified [RCV000429216] | Chr22:28703506 [GRCh38] Chr22:29099494 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005361038]|Familial cancer of breast [RCV000635868]|Hereditary cancer-predisposing syndrome [RCV000167390] | Chr22:28734444 [GRCh38] Chr22:29130432 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) | single nucleotide variant | Familial cancer of breast [RCV000228262]|Hereditary cancer-predisposing syndrome [RCV000167444]|Hereditary nonpolyposis colon cancer [RCV005361040]|not provided [RCV000485654] | Chr22:28734637 [GRCh38] Chr22:29130625 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.472G>A (p.Ala158Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000167476] | Chr22:28725097 [GRCh38] Chr22:29121085 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004813068]|Familial cancer of breast [RCV000207334]|Hereditary cancer-predisposing syndrome [RCV000167508]|not provided [RCV000759774]|not specified [RCV001582660] | Chr22:28725025 [GRCh38] Chr22:29121013 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) | single nucleotide variant | Familial cancer of breast [RCV000990400]|Hereditary cancer-predisposing syndrome [RCV000167514]|not provided [RCV000487390] | Chr22:28734719 [GRCh38] Chr22:29130707 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) | single nucleotide variant | Familial cancer of breast [RCV000410813]|Hereditary cancer-predisposing syndrome [RCV000165939]|not provided [RCV001706085] | Chr22:28734587 [GRCh38] Chr22:29130575 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala) | single nucleotide variant | Familial cancer of breast [RCV000474853]|Hereditary cancer-predisposing syndrome [RCV000165950]|Predisposition to cancer [RCV002291581] | Chr22:28696944 [GRCh38] Chr22:29092932 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr) | single nucleotide variant | Familial cancer of breast [RCV003468768]|Hereditary cancer-predisposing syndrome [RCV000166026] | Chr22:28696915 [GRCh38] Chr22:29092903 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) | single nucleotide variant | Familial cancer of breast [RCV000206741]|Hereditary cancer-predisposing syndrome [RCV000166147]|not provided [RCV001704212] | Chr22:28734536 [GRCh38] Chr22:29130524 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) | deletion | Familial cancer of breast [RCV003335161]|Hereditary cancer-predisposing syndrome [RCV000166159] | Chr22:28695732..28695747 [GRCh38] Chr22:29091720..29091735 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) | single nucleotide variant | Familial cancer of breast [RCV000461326]|Hereditary cancer-predisposing syndrome [RCV000166176]|not provided [RCV001564596] | Chr22:28724989 [GRCh38] Chr22:29120977 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) | duplication | Familial cancer of breast [RCV000635824]|Hereditary cancer-predisposing syndrome [RCV000166190]|not provided [RCV000483271] | Chr22:28699925..28699926 [GRCh38] Chr22:29095913..29095914 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=) | single nucleotide variant | Familial cancer of breast [RCV000461169]|Hereditary cancer-predisposing syndrome [RCV000163900]|not provided [RCV004998314]|not specified [RCV000428627] | Chr22:28695179 [GRCh38] Chr22:29091167 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys) | single nucleotide variant | Familial cancer of breast [RCV000463155]|Hereditary cancer-predisposing syndrome [RCV000166389]|not provided [RCV004760414]|not specified [RCV001193090] | Chr22:28734618 [GRCh38] Chr22:29130606 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025266]|Familial cancer of breast [RCV000554183]|Hereditary cancer-predisposing syndrome [RCV000166397]|not provided [RCV000283398]|not specified [RCV004782273] | Chr22:28725265 [GRCh38] Chr22:29121253 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.593-1G>A | single nucleotide variant | Familial cancer of breast [RCV001850343]|Hereditary cancer-predisposing syndrome [RCV000166451] | Chr22:28719486 [GRCh38] Chr22:29115474 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) | single nucleotide variant | CHEK2-related disorder [RCV004535088]|Familial cancer of breast [RCV000474341]|Hereditary cancer-predisposing syndrome [RCV000163966]|not provided [RCV001704186] | Chr22:28734434 [GRCh38] Chr22:29130422 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1344T>C (p.Ile448=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164095] | Chr22:28695158 [GRCh38] Chr22:29091146 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.990G>A (p.Gln330=) | single nucleotide variant | Familial cancer of breast [RCV000932573]|Hereditary cancer-predisposing syndrome [RCV000164100]|Hereditary nonpolyposis colon cancer [RCV005359461]|not specified [RCV000599868] | Chr22:28699856 [GRCh38] Chr22:29095844 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.301G>T (p.Asp101Tyr) | single nucleotide variant | Familial cancer of breast [RCV000457744]|Hereditary cancer-predisposing syndrome [RCV000166518] | Chr22:28734421 [GRCh38] Chr22:29130409 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val) | single nucleotide variant | Familial cancer of breast [RCV001850345]|Hereditary cancer-predisposing syndrome [RCV000166550]|not provided [RCV001785484] | Chr22:28694054 [GRCh38] Chr22:29090042 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) | single nucleotide variant | Familial cancer of breast [RCV000206788]|Familial ovarian cancer [RCV001356173]|Hereditary cancer-predisposing syndrome [RCV000166559]|not provided [RCV000480734]|not specified [RCV001193681] | Chr22:28725090 [GRCh38] Chr22:29121078 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.409_417del (p.Arg137_Tyr139del) | deletion | Familial cancer of breast [RCV000199899]|Hereditary cancer-predisposing syndrome [RCV000166588] | Chr22:28725270..28725278 [GRCh38] Chr22:29121258..29121266 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.364del (p.Glu122fs) | deletion | Familial cancer of breast [RCV003335163]|Hereditary cancer-predisposing syndrome [RCV000166630] | Chr22:28725323 [GRCh38] Chr22:29121311 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.926T>A (p.Leu309Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000164175] | Chr22:28699920 [GRCh38] Chr22:29095908 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.277del (p.Trp93fs) | deletion | Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246744]|CHEK2-related cancer predisposition [RCV002294059]|Familial cancer of breast [RCV000197766]|Hereditary breast ovarian cancer syndrome [RCV002509269]|Hereditary cancer-predisposing syndrome [RCV000166773]|Predisposition to cancer [RCV004786474]|not provided [RCV000223102] | Chr22:28734445 [GRCh38] Chr22:29130433 [GRCh37] Chr22:22q12.1 |
pathogenic|not provided |
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) | single nucleotide variant | Familial cancer of breast [RCV000228877]|Hereditary cancer-predisposing syndrome [RCV000164268]|Malignant tumor of breast [RCV001357970]|not provided [RCV001284480]|not specified [RCV004700506] | Chr22:28687939 [GRCh38] Chr22:29083927 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) | single nucleotide variant | Breast and colorectal cancer, susceptibility to [RCV000210079]|CHEK2-related disorder [RCV004535095]|Familial cancer of breast [RCV000459747]|Hereditary cancer-predisposing syndrome [RCV000164270]|Malignant tumor of breast [RCV001357576]|not provided [RCV000221179] | Chr22:28725020 [GRCh38] Chr22:29121008 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) | single nucleotide variant | Familial cancer of breast [RCV001046816]|Hereditary cancer-predisposing syndrome [RCV001012022]|not provided [RCV000254950] | Chr22:28689149 [GRCh38] Chr22:29085137 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.606del (p.Phe202fs) | deletion | Familial cancer of breast [RCV001384514]|Hereditary cancer-predisposing syndrome [RCV000775229]|not provided [RCV000254973] | Chr22:28719472 [GRCh38] Chr22:29115460 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) | microsatellite | Familial cancer of breast [RCV001070188]|Hereditary cancer-predisposing syndrome [RCV001804992]|not provided [RCV000255001] | Chr22:28719446..28719449 [GRCh38] Chr22:29115434..29115437 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) | single nucleotide variant | Familial cancer of breast [RCV000545100]|Hereditary cancer-predisposing syndrome [RCV000573767]|not provided [RCV000255142] | Chr22:28703511 [GRCh38] Chr22:29099499 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.683+1G>C | single nucleotide variant | Familial cancer of breast [RCV000529813]|Hereditary cancer-predisposing syndrome [RCV003584585]|not provided [RCV000255210] | Chr22:28719394 [GRCh38] Chr22:29115382 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1252T>A (p.Phe418Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000579902] | Chr22:28695717 [GRCh38] Chr22:29091705 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.320-3C>A | single nucleotide variant | Familial cancer of breast [RCV000195464]|Hereditary cancer-predisposing syndrome [RCV000219631] | Chr22:28725370 [GRCh38] Chr22:29121358 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) | single nucleotide variant | Familial cancer of breast [RCV000195519]|Hereditary cancer-predisposing syndrome [RCV000570536] | Chr22:28734721 [GRCh38] Chr22:29130709 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup | duplication | Familial cancer of breast [RCV000195709] | Chr22:22q12.1 | likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.593-1G>T | single nucleotide variant | Familial cancer of breast [RCV000195929]|Familial cancer of breast [RCV002485316]|Hereditary cancer-predisposing syndrome [RCV000566129] | Chr22:28719486 [GRCh38] Chr22:29115474 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1260-8A>G | single nucleotide variant | Familial cancer of breast [RCV000196032]|Hereditary breast ovarian cancer syndrome [RCV003483572]|Hereditary cancer-predisposing syndrome [RCV000582062]|not provided [RCV000481621] | Chr22:28695250 [GRCh38] Chr22:29091238 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.3(CHEK2):c.320-?_592+?dup273 | duplication | Familial cancer of breast [RCV000196086] | Chr22:28724977..28725367 [GRCh38] Chr22:29120965..29121355 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr) | single nucleotide variant | Familial cancer of breast [RCV000196195]|not provided [RCV002260629] | Chr22:28711970 [GRCh38] Chr22:29107958 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) | single nucleotide variant | Familial cancer of breast [RCV000196438]|Hereditary cancer-predisposing syndrome [RCV000220881] | Chr22:28734638 [GRCh38] Chr22:29130626 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.587A>G (p.Asn196Ser) | single nucleotide variant | Familial cancer of breast [RCV000196744]|Hereditary cancer-predisposing syndrome [RCV002354567] | Chr22:28724982 [GRCh38] Chr22:29120970 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) | single nucleotide variant | Familial cancer of breast [RCV000196907]|Hereditary cancer-predisposing syndrome [RCV000564347]|Malignant tumor of breast [RCV001358454]|not provided [RCV000222711]|not specified [RCV000780188] | Chr22:28699843 [GRCh38] Chr22:29095831 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+4_846+7del | deletion | Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668848]|CHEK2-related cancer predisposition [RCV004554748]|CHEK2-related cancer predisposition [RCV005025326]|Carcinoma of pancreas [RCV001391210]|Endometrial carcinoma [RCV003128154]|Familial cancer of breast [RCV000197064]|Familial cancer of breast [RCV001171463]|Hereditary breast ovarian cancer syndrome [RCV002229123]|Hereditary cancer-predisposing syndrome [RCV000222175]|Hereditary nonpolyposis colon cancer [RCV005361156]|not provided [RCV000656831]|not specified [RCV000343110] | Chr22:28709999..28710002 [GRCh38] Chr22:29105987..29105990 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_007194.4(CHEK2):c.683+10T>A | single nucleotide variant | Familial cancer of breast [RCV000197477] | Chr22:28719385 [GRCh38] Chr22:29115373 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)del | deletion | Familial cancer of breast [RCV000197635] | Chr22:22q12.1 | pathogenic |
NM_007194.3(CHEK2):c.909-?_1095+?del | deletion | Breast and colorectal cancer, susceptibility to [RCV000210155]|Familial cancer of breast [RCV000197905] | Chr22:28696901..28699937 [GRCh38] Chr22:29092889..29095925 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.593-11_593-7del | deletion | Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246777]|Familial cancer of breast [RCV000198112]|Hereditary cancer-predisposing syndrome [RCV000579399]|Hereditary nonpolyposis colon cancer [RCV005361136]|not provided [RCV000585035]|not specified [RCV000485140] | Chr22:28719492..28719496 [GRCh38] Chr22:29115480..29115484 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.686G>C (p.Gly229Ala) | single nucleotide variant | Familial cancer of breast [RCV000198627] | Chr22:28712015 [GRCh38] Chr22:29108003 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) | single nucleotide variant | Familial cancer of breast [RCV000198756]|Familial cancer of breast [RCV000765621]|Familial ovarian cancer [RCV001356357]|Hereditary cancer-predisposing syndrome [RCV000492498]|not provided [RCV000484098]|not specified [RCV001193083] | Chr22:28711959 [GRCh38] Chr22:29107947 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.320-?_*(1_?)dup | duplication | Familial cancer of breast [RCV000199289] | Chr22:28687896..28725367 [GRCh38] Chr22:29083884..29121355 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu) | single nucleotide variant | Familial cancer of breast [RCV000200593]|Hereditary cancer-predisposing syndrome [RCV001187924] | Chr22:28699893 [GRCh38] Chr22:29095881 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) | single nucleotide variant | Familial cancer of breast [RCV000200863]|Hereditary cancer-predisposing syndrome [RCV000777665]|not provided [RCV001564935]|not specified [RCV001255545] | Chr22:28687943 [GRCh38] Chr22:29083931 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1461+1G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005396858]|Familial cancer of breast [RCV000468702]|Hereditary cancer-predisposing syndrome [RCV000569979]|not provided [RCV000255259] | Chr22:28694031 [GRCh38] Chr22:29090019 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) | single nucleotide variant | Familial cancer of breast [RCV000195910]|Hereditary cancer-predisposing syndrome [RCV000562192]|not provided [RCV001582697]|not specified [RCV001818490] | Chr22:28696968 [GRCh38] Chr22:29092956 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) | deletion | Familial cancer of breast [RCV000700987]|Hereditary cancer-predisposing syndrome [RCV000561136]|not provided [RCV001357481] | Chr22:28725091 [GRCh38] Chr22:29121079 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) | single nucleotide variant | Breast and/or ovarian cancer [RCV003491948]|Familial cancer of breast [RCV000199633]|Hereditary cancer-predisposing syndrome [RCV000567149]|not provided [RCV001589080] | Chr22:28724991 [GRCh38] Chr22:29120979 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1094A>C (p.Lys365Thr) | single nucleotide variant | Familial cancer of breast [RCV000548312] | Chr22:28696902 [GRCh38] Chr22:29092890 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-10dup | duplication | not specified [RCV000160451] | Chr22:28741771..28741772 [GRCh38] Chr22:29137759..29137760 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) | single nucleotide variant | Breast and/or ovarian cancer [RCV003491954]|CHEK2-related cancer predisposition [RCV005361182]|Familial cancer of breast [RCV000204321]|Hereditary cancer-predisposing syndrome [RCV000214040]|not provided [RCV001705173]|not specified [RCV000438041] | Chr22:28734707 [GRCh38] Chr22:29130695 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) | single nucleotide variant | Familial cancer of breast [RCV000204519]|Hereditary cancer-predisposing syndrome [RCV000777678]|not provided [RCV000520409] | Chr22:28734528 [GRCh38] Chr22:29130516 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) | single nucleotide variant | Familial cancer of breast [RCV000204561]|Hereditary cancer-predisposing syndrome [RCV000570800] | Chr22:28719413 [GRCh38] Chr22:29115401 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu) | single nucleotide variant | Familial cancer of breast [RCV000204617]|Hereditary cancer-predisposing syndrome [RCV002345742]|Malignant tumor of breast [RCV001357044] | Chr22:28725036 [GRCh38] Chr22:29121024 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) | single nucleotide variant | Familial cancer of breast [RCV000204786]|Hereditary cancer-predisposing syndrome [RCV000773153]|not specified [RCV000615918] | Chr22:28687906 [GRCh38] Chr22:29083894 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.792+2T>C | single nucleotide variant | Familial cancer of breast [RCV000205137]|Hereditary breast ovarian cancer syndrome [RCV005251093]|Hereditary cancer-predisposing syndrome [RCV000570644] | Chr22:28711907 [GRCh38] Chr22:29107895 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) | single nucleotide variant | Familial cancer of breast [RCV000205218]|Hereditary cancer-predisposing syndrome [RCV000221104]|not provided [RCV000255543] | Chr22:28696926 [GRCh38] Chr22:29092914 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) | single nucleotide variant | CHEK2-related disorder [RCV004530222]|Familial cancer of breast [RCV001084549]|Hereditary cancer-predisposing syndrome [RCV000777673]|Malignant tumor of breast [RCV001356907]|not provided [RCV000205233]|not specified [RCV000610350] | Chr22:28711987 [GRCh38] Chr22:29107975 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) | single nucleotide variant | Familial cancer of breast [RCV000205611]|Hereditary cancer-predisposing syndrome [RCV000561755]|not provided [RCV000679675] | Chr22:28734576 [GRCh38] Chr22:29130564 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+6T>C | single nucleotide variant | Familial cancer of breast [RCV000205660]|Hereditary cancer-predisposing syndrome [RCV003584566]|not provided [RCV001582708]|not specified [RCV001818497] | Chr22:28703499 [GRCh38] Chr22:29099487 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) | single nucleotide variant | Familial cancer of breast [RCV000205766]|Hereditary cancer-predisposing syndrome [RCV000234858]|not provided [RCV001582710] | Chr22:28699846 [GRCh38] Chr22:29095834 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) | single nucleotide variant | Breast and/or ovarian cancer [RCV003150092]|CHEK2-related cancer predisposition [RCV003493502]|Familial cancer of breast [RCV000205862]|Hereditary breast ovarian cancer syndrome [RCV004764780]|Hereditary cancer-predisposing syndrome [RCV000565935]|not provided [RCV001566699] | Chr22:28696963 [GRCh38] Chr22:29092951 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) | duplication | Familial cancer of breast [RCV000206009]|Hereditary cancer-predisposing syndrome [RCV003165494] | Chr22:28725085..28725086 [GRCh38] Chr22:29121073..29121074 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.444+5G>C | single nucleotide variant | Familial cancer of breast [RCV000206019]|not provided [RCV002460986] | Chr22:28725238 [GRCh38] Chr22:29121226 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-10T>G | single nucleotide variant | Familial cancer of breast [RCV001421981] | Chr22:28699947 [GRCh38] Chr22:29095935 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025330]|CHEK2-related cancer predisposition [RCV005361169]|Familial cancer of breast [RCV000206453]|Hereditary cancer-predisposing syndrome [RCV000219155]|Malignant tumor of breast [RCV003447517]|not provided [RCV000481149]|not specified [RCV001818496] | Chr22:28725012 [GRCh38] Chr22:29121000 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val) | single nucleotide variant | Familial cancer of breast [RCV000203746]|Hereditary cancer-predisposing syndrome [RCV002336560] | Chr22:28725096 [GRCh38] Chr22:29121084 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=) | single nucleotide variant | Familial cancer of breast [RCV000203830]|Hereditary cancer-predisposing syndrome [RCV000580335] | Chr22:28694083 [GRCh38] Chr22:29090071 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.320-1G>C | single nucleotide variant | Familial cancer of breast [RCV000203880]|Hereditary cancer-predisposing syndrome [RCV003165500] | Chr22:28725368 [GRCh38] Chr22:29121356 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly) | single nucleotide variant | Familial cancer of breast [RCV000203958]|Hereditary cancer-predisposing syndrome [RCV002345739]|not provided [RCV001753615] | Chr22:28725310 [GRCh38] Chr22:29121298 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.3(CHEK2):c.684-?_*154+?dup | duplication | Familial cancer of breast [RCV000203977] | uncertain significance | |
NM_007194.4(CHEK2):c.846+1G>C | single nucleotide variant | CHEK2-related cancer predisposition [RCV005396633]|CHEK2-related cancer predisposition [RCV005414478]|Familial cancer of breast [RCV000206880]|Hereditary cancer-predisposing syndrome [RCV000218773]|not provided [RCV000255179] | Chr22:28710005 [GRCh38] Chr22:29105993 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798682]|CHEK2-related disorder [RCV004530228]|Familial cancer of breast [RCV000204142]|Hereditary cancer-predisposing syndrome [RCV000574409]|not provided [RCV000481497] | Chr22:28695815 [GRCh38] Chr22:29091803 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.986A>G (p.Tyr329Cys) | single nucleotide variant | Familial cancer of breast [RCV000548810]|Hereditary cancer-predisposing syndrome [RCV002384085] | Chr22:28699860 [GRCh38] Chr22:29095848 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) | single nucleotide variant | Familial cancer of breast [RCV003335295]|Hereditary cancer-predisposing syndrome [RCV002328750]|Hereditary nonpolyposis colon cancer [RCV005361502]|not provided [RCV000255399] | Chr22:28695799 [GRCh38] Chr22:29091787 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.860del (p.Lys287fs) | deletion | Familial cancer of breast [RCV000409327]|Hereditary breast ovarian cancer syndrome [RCV001260330]|Hereditary cancer-predisposing syndrome [RCV002446501]|not provided [RCV000255418] | Chr22:28703553 [GRCh38] Chr22:29099541 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser) | single nucleotide variant | Familial cancer of breast [RCV002518758]|Hereditary cancer-predisposing syndrome [RCV004609336]|Malignant tumor of breast [RCV001358222]|not provided [RCV000255649] | Chr22:28725099 [GRCh38] Chr22:29121087 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1340T>C (p.Phe447Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562327] | Chr22:28695162 [GRCh38] Chr22:29091150 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1058T>C (p.Val353Ala) | single nucleotide variant | Familial cancer of breast [RCV000558843]|Hereditary cancer-predisposing syndrome [RCV002404408] | Chr22:28696938 [GRCh38] Chr22:29092926 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-8C>T | single nucleotide variant | Familial cancer of breast [RCV000558950]|Hereditary cancer-predisposing syndrome [RCV000776662]|not provided [RCV005000153]|not specified [RCV001174804] | Chr22:28712025 [GRCh38] Chr22:29108013 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.156C>T (p.Ser52=) | single nucleotide variant | Familial cancer of breast [RCV000559067] | Chr22:28734566 [GRCh38] Chr22:29130554 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu) | single nucleotide variant | Familial cancer of breast [RCV000559830]|Hereditary cancer-predisposing syndrome [RCV002404409] | Chr22:28687929 [GRCh38] Chr22:29083917 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn) | single nucleotide variant | Familial cancer of breast [RCV002527982]|Hereditary cancer-predisposing syndrome [RCV000562481] | Chr22:28699886 [GRCh38] Chr22:29095874 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005367368]|Familial cancer of breast [RCV000544062]|Hereditary cancer-predisposing syndrome [RCV000575755]|not provided [RCV000523569]|not specified [RCV001805134] | Chr22:28734427 [GRCh38] Chr22:29130415 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.254C>A (p.Pro85His) | single nucleotide variant | Familial cancer of breast [RCV000554787]|Hereditary cancer-predisposing syndrome [RCV001190157]|not provided [RCV004791531]|not specified [RCV001821525] | Chr22:28734468 [GRCh38] Chr22:29130456 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu) | single nucleotide variant | Familial cancer of breast [RCV001340655]|Hereditary cancer-predisposing syndrome [RCV000562747] | Chr22:28725091 [GRCh38] Chr22:29121079 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1233G>T (p.Trp411Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000562833] | Chr22:28695736 [GRCh38] Chr22:29091724 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) | single nucleotide variant | Familial cancer of breast [RCV001865736]|Hereditary breast ovarian cancer syndrome [RCV004764791]|Hereditary cancer-predisposing syndrome [RCV000562978]|not provided [RCV000657757] | Chr22:28695731 [GRCh38] Chr22:29091719 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1277C>G (p.Pro426Arg) | single nucleotide variant | Familial cancer of breast [RCV000635663]|Hereditary cancer-predisposing syndrome [RCV000563770] | Chr22:28695225 [GRCh38] Chr22:29091213 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) | single nucleotide variant | Familial cancer of breast [RCV001055511]|Hereditary cancer-predisposing syndrome [RCV000562079] | Chr22:28734666 [GRCh38] Chr22:29130654 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln) | single nucleotide variant | Familial cancer of breast [RCV002530751]|Hereditary cancer-predisposing syndrome [RCV000579924] | Chr22:28696945 [GRCh38] Chr22:29092933 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr) | single nucleotide variant | Familial cancer of breast [RCV002516195]|not provided [RCV000219591] | Chr22:28694085 [GRCh38] Chr22:29090073 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.809T>A (p.Val270Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221821] | Chr22:28710043 [GRCh38] Chr22:29106031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg) | single nucleotide variant | Familial cancer of breast [RCV001854736]|not provided [RCV000221826] | Chr22:28725043 [GRCh38] Chr22:29121031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser) | single nucleotide variant | Familial cancer of breast [RCV002519752]|Hereditary cancer-predisposing syndrome [RCV004948222]|not provided [RCV000221836] | Chr22:28696968 [GRCh38] Chr22:29092956 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) | single nucleotide variant | Familial cancer of breast [RCV000469289]|Hereditary cancer-predisposing syndrome [RCV000221904]|not provided [RCV000223554] | Chr22:28725049 [GRCh38] Chr22:29121037 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) | single nucleotide variant | Familial cancer of breast [RCV000476255]|Familial cancer of breast [RCV002500740]|Hereditary cancer-predisposing syndrome [RCV001019005]|not provided [RCV000215327] | Chr22:28699926 [GRCh38] Chr22:29095914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg) | single nucleotide variant | Familial cancer of breast [RCV001202841]|Hereditary cancer-predisposing syndrome [RCV000215367] | Chr22:28725331 [GRCh38] Chr22:29121319 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.544C>T (p.Pro182Ser) | single nucleotide variant | Familial cancer of breast [RCV000635898]|Hereditary cancer-predisposing syndrome [RCV000215383] | Chr22:28725025 [GRCh38] Chr22:29121013 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414480]|Familial cancer of breast [RCV000990385]|Hereditary cancer-predisposing syndrome [RCV000215406]|Hereditary nonpolyposis colon cancer [RCV005361271]|not provided [RCV001712100]|not specified [RCV000432175] | Chr22:28694041 [GRCh38] Chr22:29090029 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val) | single nucleotide variant | Familial cancer of breast [RCV001037157]|Hereditary cancer-predisposing syndrome [RCV000217090]|not specified [RCV000781302] | Chr22:28711929 [GRCh38] Chr22:29107917 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn) | single nucleotide variant | Familial cancer of breast [RCV000230901]|Hereditary cancer-predisposing syndrome [RCV000219618]|not specified [RCV001818527] | Chr22:28695809 [GRCh38] Chr22:29091797 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.910A>T (p.Met304Leu) | single nucleotide variant | Familial cancer of breast [RCV000458120]|Hereditary cancer-predisposing syndrome [RCV000219675] | Chr22:28699936 [GRCh38] Chr22:29095924 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) | single nucleotide variant | Familial cancer of breast [RCV000635744]|Hereditary cancer-predisposing syndrome [RCV000219710]|not provided [RCV000521105] | Chr22:28687938 [GRCh38] Chr22:29083926 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) | single nucleotide variant | CHEK2-related disorder [RCV004532800]|Familial cancer of breast [RCV000464724]|Hereditary cancer-predisposing syndrome [RCV000221992]|not provided [RCV000255080] | Chr22:28699929 [GRCh38] Chr22:29095917 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser) | single nucleotide variant | CHEK2-related disorder [RCV004725075]|Familial cancer of breast [RCV000635953]|Hereditary cancer-predisposing syndrome [RCV000222039]|not provided [RCV003229820] | Chr22:28695809 [GRCh38] Chr22:29091797 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) | single nucleotide variant | Familial cancer of breast [RCV000470899]|Hereditary cancer-predisposing syndrome [RCV000219946]|not provided [RCV000213121]|not specified [RCV003320140] | Chr22:28694073 [GRCh38] Chr22:29090061 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) | single nucleotide variant | Familial cancer of breast [RCV000476080]|Hereditary cancer-predisposing syndrome [RCV000565339]|not provided [RCV000590455]|not specified [RCV002247666] | Chr22:28734688 [GRCh38] Chr22:29130676 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003137823]|Familial cancer of breast [RCV000228310]|Familial cancer of breast [RCV002478800]|Hereditary cancer-predisposing syndrome [RCV000217252]|not provided [RCV000522320] | Chr22:28699884 [GRCh38] Chr22:29095872 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) | single nucleotide variant | Endometrial carcinoma [RCV001355259]|Familial cancer of breast [RCV000466283]|Hereditary cancer-predisposing syndrome [RCV000217311]|not provided [RCV001576667] | Chr22:28725319 [GRCh38] Chr22:29121307 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-3C>T | single nucleotide variant | Familial cancer of breast [RCV000526712]|Hereditary cancer-predisposing syndrome [RCV000219786]|not provided [RCV004772867] | Chr22:28689218 [GRCh38] Chr22:29085206 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) | single nucleotide variant | Familial cancer of breast [RCV000545753]|Hereditary cancer-predisposing syndrome [RCV000219795]|not provided [RCV000223593]|not specified [RCV001192411] | Chr22:28689155 [GRCh38] Chr22:29085143 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414481]|Familial cancer of breast [RCV000469433]|Familial prostate cancer [RCV002282053]|Hereditary cancer-predisposing syndrome [RCV000219822]|not provided [RCV000483345] | Chr22:28689191 [GRCh38] Chr22:29085179 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|not provided |
NM_007194.4(CHEK2):c.1399T>G (p.Leu467Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222069] | Chr22:28694094 [GRCh38] Chr22:29090082 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) | single nucleotide variant | Familial cancer of breast [RCV000475066]|Hereditary cancer-predisposing syndrome [RCV000213236]|not provided [RCV000318548]|not specified [RCV001420839] | Chr22:28734507 [GRCh38] Chr22:29130495 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val) | single nucleotide variant | Familial cancer of breast [RCV000798916]|Hereditary cancer-predisposing syndrome [RCV000213274]|not provided [RCV003159113] | Chr22:28694115 [GRCh38] Chr22:29090103 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.Glu86_Glu87insAspGlnGluProGlu) | microsatellite | Familial cancer of breast [RCV000471811]|Hereditary cancer-predisposing syndrome [RCV000219854]|not provided [RCV000487034]|not specified [RCV003493527] | Chr22:28734461..28734462 [GRCh38] Chr22:29130449..29130450 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) | deletion | Familial cancer of breast [RCV001207833]|Hereditary cancer-predisposing syndrome [RCV000222245]|not provided [RCV001753661] | Chr22:28734638..28734670 [GRCh38] Chr22:29130626..29130658 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) | single nucleotide variant | CHEK2-related disorder [RCV004529377]|Familial cancer of breast [RCV001222736]|Hereditary cancer-predisposing syndrome [RCV000222336]|not provided [RCV001753667] | Chr22:28694102 [GRCh38] Chr22:29090090 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1367C>T (p.Ser456Leu) | single nucleotide variant | Familial cancer of breast [RCV001853592]|Hereditary cancer-predisposing syndrome [RCV000220025] | Chr22:28695135 [GRCh38] Chr22:29091123 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) | single nucleotide variant | Familial cancer of breast [RCV001036467]|Hereditary cancer-predisposing syndrome [RCV000213517]|not provided [RCV001729467] | Chr22:28725062 [GRCh38] Chr22:29121050 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.505T>A (p.Phe169Ile) | single nucleotide variant | Familial cancer of breast [RCV001036998]|Hereditary cancer-predisposing syndrome [RCV000213598] | Chr22:28725064 [GRCh38] Chr22:29121052 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.848C>A (p.Pro283His) | single nucleotide variant | Familial cancer of breast [RCV000692317]|Hereditary cancer-predisposing syndrome [RCV000217734] | Chr22:28703565 [GRCh38] Chr22:29099553 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe) | single nucleotide variant | Familial cancer of breast [RCV001853586]|Hereditary cancer-predisposing syndrome [RCV000217761] | Chr22:28710021 [GRCh38] Chr22:29106009 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) | single nucleotide variant | Familial cancer of breast [RCV000576345]|Hereditary cancer-predisposing syndrome [RCV000217777]|not provided [RCV000255686] | Chr22:28695187 [GRCh38] Chr22:29091175 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) | single nucleotide variant | Familial cancer of breast [RCV000459450]|Hereditary cancer-predisposing syndrome [RCV000220064]|not provided [RCV000512899]|not specified [RCV000444042] | Chr22:28734590 [GRCh38] Chr22:29130578 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe) | single nucleotide variant | Familial cancer of breast [RCV005090145]|Hereditary cancer-predisposing syndrome [RCV000772048]|not provided [RCV000220093] | Chr22:28695815 [GRCh38] Chr22:29091803 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) | single nucleotide variant | Familial cancer of breast [RCV000233648]|Familial cancer of breast [RCV000764378]|Hereditary cancer-predisposing syndrome [RCV000220180]|Hereditary nonpolyposis colon cancer [RCV005361255]|not provided [RCV000985699] | Chr22:28696918 [GRCh38] Chr22:29092906 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) | microsatellite | Familial cancer of breast [RCV000812426]|Hereditary cancer-predisposing syndrome [RCV000214084]|not provided [RCV000213705] | Chr22:28694092..28694094 [GRCh38] Chr22:29090080..29090082 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn) | single nucleotide variant | Familial cancer of breast [RCV000526458]|Hereditary cancer-predisposing syndrome [RCV000213717]|not provided [RCV000220442] | Chr22:28695744 [GRCh38] Chr22:29091732 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.249A>G (p.Gln83=) | single nucleotide variant | Familial cancer of breast [RCV001433566]|Hereditary cancer-predisposing syndrome [RCV000213720] | Chr22:28734473 [GRCh38] Chr22:29130461 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.877G>A (p.Asp293Asn) | single nucleotide variant | Familial cancer of breast [RCV001072102]|Hereditary cancer-predisposing syndrome [RCV000213727] | Chr22:28703536 [GRCh38] Chr22:29099524 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.963A>C (p.Glu321Asp) | single nucleotide variant | Familial cancer of breast [RCV005090099]|Hereditary cancer-predisposing syndrome [RCV000215454] | Chr22:28699883 [GRCh38] Chr22:29095871 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+3A>G | single nucleotide variant | Familial cancer of breast [RCV000764372]|Familial cancer of breast [RCV001211449]|Hereditary cancer-predisposing syndrome [RCV000217853] | Chr22:28695124 [GRCh38] Chr22:29091112 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) | single nucleotide variant | Familial cancer of breast [RCV000539842]|Hereditary cancer-predisposing syndrome [RCV000217861]|Li-Fraumeni syndrome [RCV005361345]|not provided [RCV000766899]|not specified [RCV000485639] | Chr22:28695710 [GRCh38] Chr22:29091698 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1376-1G>A | single nucleotide variant | Familial cancer of breast [RCV001230274]|Hereditary cancer-predisposing syndrome [RCV000217905] | Chr22:28694118 [GRCh38] Chr22:29090106 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) | single nucleotide variant | Familial cancer of breast [RCV000635769]|Hereditary cancer-predisposing syndrome [RCV000222098]|not provided [RCV000217906]|not specified [RCV003150985] | Chr22:28703525 [GRCh38] Chr22:29099513 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) | single nucleotide variant | Breast and/or ovarian cancer [RCV003491990]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005416113]|Familial cancer of breast [RCV000465371]|Hereditary breast ovarian cancer syndrome [RCV002265697]|Hereditary cancer-predisposing syndrome [RCV000448496]|not provided [RCV000220219] | Chr22:28695737 [GRCh38] Chr22:29091725 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.520C>G (p.Leu174Val) | single nucleotide variant | Familial cancer of breast [RCV001853562]|Hereditary cancer-predisposing syndrome [RCV000220253] | Chr22:28725049 [GRCh38] Chr22:29121037 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) | single nucleotide variant | Familial cancer of breast [RCV001365138]|Hereditary cancer-predisposing syndrome [RCV000213798]|not provided [RCV001753665]|not specified [RCV001800557] | Chr22:28734537 [GRCh38] Chr22:29130525 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) | single nucleotide variant | Familial cancer of breast [RCV000539843]|Hereditary cancer-predisposing syndrome [RCV000213799]|not provided [RCV001575094] | Chr22:28703553 [GRCh38] Chr22:29099541 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) | single nucleotide variant | Familial cancer of breast [RCV000456944]|Hereditary cancer-predisposing syndrome [RCV000213808]|Hereditary nonpolyposis colon cancer [RCV005361263]|not provided [RCV001722178]|not specified [RCV000607166] | Chr22:28725306 [GRCh38] Chr22:29121294 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp) | single nucleotide variant | Familial cancer of breast [RCV000635939]|Hereditary cancer-predisposing syndrome [RCV000213815]|not provided [RCV003238741] | Chr22:28734698 [GRCh38] Chr22:29130686 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) | duplication | Familial cancer of breast [RCV001854719]|Hereditary cancer-predisposing syndrome [RCV000213838]|not provided [RCV000657826] | Chr22:28703536..28703537 [GRCh38] Chr22:29099524..29099525 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1096-3_1098del | deletion | Familial cancer of breast [RCV004791342]|Hereditary cancer-predisposing syndrome [RCV000213840] | Chr22:28695871..28695876 [GRCh38] Chr22:29091859..29091864 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.792+5G>A | single nucleotide variant | Familial cancer of breast [RCV001853514]|Hereditary cancer-predisposing syndrome [RCV000213857] | Chr22:28711904 [GRCh38] Chr22:29107892 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) | single nucleotide variant | Familial cancer of breast [RCV000542182]|Hereditary cancer-predisposing syndrome [RCV000213858]|Hereditary nonpolyposis colon cancer [RCV005361289]|not provided [RCV001795353] | Chr22:28734483 [GRCh38] Chr22:29130471 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg) | single nucleotide variant | Familial cancer of breast [RCV001212945]|not provided [RCV000215591] | Chr22:28734516 [GRCh38] Chr22:29130504 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) | single nucleotide variant | CHEK2-related disorder [RCV004737349]|Familial cancer of breast [RCV000526256]|Hereditary cancer-predisposing syndrome [RCV000220847]|not provided [RCV000215612] | Chr22:28703558 [GRCh38] Chr22:29099546 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val) | single nucleotide variant | Familial cancer of breast [RCV000231597]|Hereditary cancer-predisposing syndrome [RCV000215617] | Chr22:28712015 [GRCh38] Chr22:29108003 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=) | single nucleotide variant | Familial cancer of breast [RCV001506665]|Hereditary cancer-predisposing syndrome [RCV000217982]|Hereditary nonpolyposis colon cancer [RCV005361323] | Chr22:28719418 [GRCh38] Chr22:29115406 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser) | single nucleotide variant | Familial cancer of breast [RCV001853597]|Hereditary cancer-predisposing syndrome [RCV000218081]|not provided [RCV001284624] | Chr22:28703517 [GRCh38] Chr22:29099505 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1113C>T (p.His371=) | single nucleotide variant | Familial cancer of breast [RCV000456713]|Hereditary cancer-predisposing syndrome [RCV000218083]|not specified [RCV000605748] | Chr22:28695856 [GRCh38] Chr22:29091844 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.78C>T (p.Thr26=) | single nucleotide variant | Familial cancer of breast [RCV000635983]|Hereditary cancer-predisposing syndrome [RCV000220441]|not specified [RCV000426998] | Chr22:28734644 [GRCh38] Chr22:29130632 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu) | single nucleotide variant | Familial cancer of breast [RCV000635813]|Hereditary cancer-predisposing syndrome [RCV000220471]|not provided [RCV000220593] | Chr22:28725333 [GRCh38] Chr22:29121321 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005365165]|Familial cancer of breast [RCV000698359]|Hereditary cancer-predisposing syndrome [RCV000215715] | Chr22:28695151 [GRCh38] Chr22:29091139 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.432T>G (p.Phe144Leu) | single nucleotide variant | Familial cancer of breast [RCV003607261]|Hereditary cancer-predisposing syndrome [RCV000215720] | Chr22:28725255 [GRCh38] Chr22:29121243 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.876del (p.Phe292fs) | deletion | Familial cancer of breast [RCV000462314]|Hereditary cancer-predisposing syndrome [RCV000568161]|not provided [RCV000215774] | Chr22:28703537 [GRCh38] Chr22:29099525 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) | single nucleotide variant | Familial cancer of breast [RCV000476107]|Hereditary cancer-predisposing syndrome [RCV000218111]|not provided [RCV000759044]|not specified [RCV000781295] | Chr22:28734663 [GRCh38] Chr22:29130651 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1520C>A (p.Ala507Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000218115] | Chr22:28689157 [GRCh38] Chr22:29085145 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+1_1375+2del | deletion | Familial cancer of breast [RCV000823885]|Hereditary cancer-predisposing syndrome [RCV000220512] | Chr22:28695125..28695126 [GRCh38] Chr22:29091113..29091114 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) | deletion | Familial cancer of breast [RCV001854693]|Hereditary breast ovarian cancer syndrome [RCV001199925]|Hereditary cancer-predisposing syndrome [RCV000220544]|not provided [RCV001551330] | Chr22:28734702..28734708 [GRCh38] Chr22:29130690..29130696 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.91_111dup (p.Gly37_Ile38insSerSerSerGlnSerGlnGly) | duplication | Familial cancer of breast [RCV002518231]|Hereditary cancer-predisposing syndrome [RCV000220600] | Chr22:28734610..28734611 [GRCh38] Chr22:29130598..29130599 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.110G>A (p.Gly37Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000220647] | Chr22:28734612 [GRCh38] Chr22:29130600 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1200G>A (p.Gly400=) | single nucleotide variant | Familial cancer of breast [RCV002057201]|Hereditary cancer-predisposing syndrome [RCV000214151] | Chr22:28695769 [GRCh38] Chr22:29091757 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1095+1G>A | single nucleotide variant | Familial cancer of breast [RCV000468038]|Hereditary cancer-predisposing syndrome [RCV000215927]|not provided [RCV000520428] | Chr22:28696900 [GRCh38] Chr22:29092888 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) | single nucleotide variant | Familial cancer of breast [RCV000458988]|Hereditary cancer-predisposing syndrome [RCV000565220]|not provided [RCV000767121]|not specified [RCV000218256] | Chr22:28699930 [GRCh38] Chr22:29095918 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) | single nucleotide variant | Familial cancer of breast [RCV000699081]|Hereditary cancer-predisposing syndrome [RCV000220383]|not provided [RCV000218265] | Chr22:28695225 [GRCh38] Chr22:29091213 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) | single nucleotide variant | Familial cancer of breast [RCV000530173]|Hereditary cancer-predisposing syndrome [RCV000218319]|not provided [RCV001775694] | Chr22:28695181 [GRCh38] Chr22:29091169 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) | single nucleotide variant | Familial cancer of breast [RCV000540877]|Hereditary cancer-predisposing syndrome [RCV000218357] | Chr22:28699872 [GRCh38] Chr22:29095860 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.507_509del (p.Phe169_Val170delinsLeu) | deletion | Familial cancer of breast [RCV000798479]|Hereditary cancer-predisposing syndrome [RCV000220664] | Chr22:28725060..28725062 [GRCh38] Chr22:29121048..29121050 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.238C>T (p.Pro80Ser) | single nucleotide variant | Familial cancer of breast [RCV000822283]|Hereditary cancer-predisposing syndrome [RCV000222378] | Chr22:28734484 [GRCh38] Chr22:29130472 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp) | single nucleotide variant | Familial cancer of breast [RCV001237510]|Hereditary cancer-predisposing syndrome [RCV000222404] | Chr22:28734450 [GRCh38] Chr22:29130438 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.759A>G (p.Lys253=) | single nucleotide variant | Familial cancer of breast [RCV005246814]|Hereditary cancer-predisposing syndrome [RCV000222531] | Chr22:28711942 [GRCh38] Chr22:29107930 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) | single nucleotide variant | Breast neoplasm [RCV000399989]|Colorectal cancer [RCV000301635]|Familial cancer of breast [RCV000232766]|Hereditary cancer-predisposing syndrome [RCV000222533]|not provided [RCV000586880]|not specified [RCV003235148] | Chr22:28725352 [GRCh38] Chr22:29121340 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.793-122G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209010] | Chr22:28710181 [GRCh38] Chr22:29106169 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) | single nucleotide variant | Familial cancer of breast [RCV000555257]|Hereditary cancer-predisposing syndrome [RCV000214290]|not provided [RCV001800577]|not specified [RCV001804960] | Chr22:28725245 [GRCh38] Chr22:29121233 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) | single nucleotide variant | Familial cancer of breast [RCV000470987]|Hereditary cancer-predisposing syndrome [RCV000214317]|not provided [RCV001762482]|not specified [RCV003230457] | Chr22:28687938 [GRCh38] Chr22:29083926 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.371G>T (p.Cys124Phe) | single nucleotide variant | Familial cancer of breast [RCV005090137]|not provided [RCV000215985] | Chr22:28725316 [GRCh38] Chr22:29121304 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025360]|Familial cancer of breast [RCV000535584]|Hereditary breast ovarian cancer syndrome [RCV001030621]|Hereditary cancer-predisposing syndrome [RCV000215992]|Malignant tumor of breast [RCV001355832]|not provided [RCV000223343]|not specified [RCV000780185] | Chr22:28695145 [GRCh38] Chr22:29091133 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.-3G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000217055]|not provided [RCV000215997] | Chr22:28734724 [GRCh38] Chr22:29130712 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro) | single nucleotide variant | Familial cancer of breast [RCV000691821]|Hereditary cancer-predisposing syndrome [RCV000216045] | Chr22:28695127 [GRCh38] Chr22:29091115 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp) | single nucleotide variant | Familial cancer of breast [RCV000537393]|Hereditary cancer-predisposing syndrome [RCV000220903]|not provided [RCV000479865] | Chr22:28725073 [GRCh38] Chr22:29121061 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) | deletion | CHEK2-related disorder [RCV004532790]|Familial cancer of breast [RCV000635814]|Hereditary cancer-predisposing syndrome [RCV000223426]|not provided [RCV000220927] | Chr22:28694065..28694076 [GRCh38] Chr22:29090053..29090064 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414484]|Familial cancer of breast [RCV000534980]|Hereditary cancer-predisposing syndrome [RCV000222661]|not specified [RCV002265693] | Chr22:28687959 [GRCh38] Chr22:29083947 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) | single nucleotide variant | Familial cancer of breast [RCV000476078]|Hereditary cancer-predisposing syndrome [RCV000222675]|Hereditary nonpolyposis colon cancer [RCV005361268]|not provided [RCV001800546]|not specified [RCV001193089] | Chr22:28694055 [GRCh38] Chr22:29090043 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.399A>G (p.Thr133=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000222679] | Chr22:28725288 [GRCh38] Chr22:29121276 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.847-1329T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000208907] | Chr22:28704895 [GRCh38] Chr22:29100883 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1542+208C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000208932] | Chr22:28688927 [GRCh38] Chr22:29084915 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.592+1802A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209013] | Chr22:28723175 [GRCh38] Chr22:29119163 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+664C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209174] | Chr22:28709342 [GRCh38] Chr22:29105330 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1009-166A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209250] | Chr22:28697153 [GRCh38] Chr22:29093141 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.520C>A (p.Leu174Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000216235] | Chr22:28725049 [GRCh38] Chr22:29121037 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1098T>C (p.Ile366=) | single nucleotide variant | Familial cancer of breast [RCV001395884]|Hereditary cancer-predisposing syndrome [RCV000216244] | Chr22:28695871 [GRCh38] Chr22:29091859 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile) | single nucleotide variant | Familial cancer of breast [RCV000536362]|Hereditary cancer-predisposing syndrome [RCV000216282] | Chr22:28734584 [GRCh38] Chr22:29130572 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.409_410delinsTC (p.Arg137Ser) | indel | Familial cancer of breast [RCV002519660]|Hereditary cancer-predisposing syndrome [RCV000218554] | Chr22:28725277..28725278 [GRCh38] Chr22:29121265..29121266 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met) | single nucleotide variant | Familial cancer of breast [RCV000635886]|Hereditary cancer-predisposing syndrome [RCV000221032] | Chr22:28695202 [GRCh38] Chr22:29091190 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798724]|Familial cancer of breast [RCV000465836]|Hereditary cancer-predisposing syndrome [RCV000221086]|not provided [RCV000485481] | Chr22:28725075 [GRCh38] Chr22:29121063 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004701296]|Familial cancer of breast [RCV000635710]|Hereditary cancer-predisposing syndrome [RCV000222729]|not provided [RCV000482650]|not specified [RCV001818540] | Chr22:28696920 [GRCh38] Chr22:29092908 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+783C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209077] | Chr22:28693249 [GRCh38] Chr22:29089237 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.792+128C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209147] | Chr22:28711781 [GRCh38] Chr22:29107769 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+1775T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209256] | Chr22:28692257 [GRCh38] Chr22:29088245 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909-90C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209454] | Chr22:28700027 [GRCh38] Chr22:29096015 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1462-181A>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209529] | Chr22:28689396 [GRCh38] Chr22:29085384 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-107G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209555] | Chr22:28710166 [GRCh38] Chr22:29106154 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) | single nucleotide variant | Familial cancer of breast [RCV000699485]|Hereditary cancer-predisposing syndrome [RCV000214536]|not provided [RCV000657722] | Chr22:28694034 [GRCh38] Chr22:29090022 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) | single nucleotide variant | Familial cancer of breast [RCV000230142]|Familial cancer of breast [RCV002485419]|Hereditary cancer-predisposing syndrome [RCV000214565]|Hereditary nonpolyposis colon cancer [RCV005361275]|not provided [RCV000523789]|not specified [RCV000781305] | Chr22:28734588 [GRCh38] Chr22:29130576 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1401G>C (p.Leu467Phe) | single nucleotide variant | Familial cancer of breast [RCV001323295]|Hereditary cancer-predisposing syndrome [RCV000214589] | Chr22:28694092 [GRCh38] Chr22:29090080 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001833223]|Familial cancer of breast [RCV000554690]|Hereditary cancer-predisposing syndrome [RCV000214614]|not provided [RCV001594878] | Chr22:28695828 [GRCh38] Chr22:29091816 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) | single nucleotide variant | Familial cancer of breast [RCV000226448]|Hereditary cancer-predisposing syndrome [RCV000214627]|not provided [RCV000657033]|not specified [RCV003230460] | Chr22:28734468 [GRCh38] Chr22:29130456 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=) | single nucleotide variant | Familial cancer of breast [RCV000872142]|Hereditary cancer-predisposing syndrome [RCV000216315]|not specified [RCV001193689] | Chr22:28695766 [GRCh38] Chr22:29091754 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) | single nucleotide variant | Familial cancer of breast [RCV000547372]|Hereditary cancer-predisposing syndrome [RCV000216336]|not provided [RCV001722182] | Chr22:28696907 [GRCh38] Chr22:29092895 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.788_790dup (p.Glu263_Ala264insGlu) | duplication | Hereditary cancer-predisposing syndrome [RCV000216414] | Chr22:28711910..28711911 [GRCh38] Chr22:29107898..29107899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr) | single nucleotide variant | Familial cancer of breast [RCV000686614]|Hereditary cancer-predisposing syndrome [RCV000216434]|not provided [RCV001753658] | Chr22:28710010 [GRCh38] Chr22:29105998 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.414A>C (p.Thr138=) | single nucleotide variant | Familial cancer of breast [RCV001479069]|Hereditary cancer-predisposing syndrome [RCV000218705] | Chr22:28725273 [GRCh38] Chr22:29121261 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025354]|Familial cancer of breast [RCV000234274]|Hereditary cancer-predisposing syndrome [RCV000218814]|not provided [RCV003153494]|not specified [RCV002465568] | Chr22:28703562 [GRCh38] Chr22:29099550 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) | single nucleotide variant | Familial cancer of breast [RCV001212505]|Hereditary cancer-predisposing syndrome [RCV000218820] | Chr22:28734418 [GRCh38] Chr22:29130406 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.86A>G (p.Gln29Arg) | single nucleotide variant | Familial cancer of breast [RCV002519718]|Hereditary cancer-predisposing syndrome [RCV000218829] | Chr22:28734636 [GRCh38] Chr22:29130624 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1037G>T (p.Arg346Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000221244] | Chr22:28696959 [GRCh38] Chr22:29092947 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met) | single nucleotide variant | not provided [RCV000222888] | Chr22:28734608 [GRCh38] Chr22:29130596 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr) | single nucleotide variant | Familial cancer of breast [RCV001338616]|Hereditary cancer-predisposing syndrome [RCV000222912] | Chr22:28687911 [GRCh38] Chr22:29083899 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) | single nucleotide variant | Familial cancer of breast [RCV000460613]|Hereditary cancer-predisposing syndrome [RCV000222942]|Malignant tumor of breast [RCV001356889]|not provided [RCV003477745]|not specified [RCV000426186] | Chr22:28689186 [GRCh38] Chr22:29085174 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1376-12T>C | single nucleotide variant | CHEK2-related cancer predisposition [RCV005361354]|Familial cancer of breast [RCV002054998]|Hereditary cancer-predisposing syndrome [RCV001192140]|not provided [RCV000222949] | Chr22:28694129 [GRCh38] Chr22:29090117 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His) | single nucleotide variant | Familial cancer of breast [RCV000463739]|Hereditary cancer-predisposing syndrome [RCV000222979]|not provided [RCV001284479] | Chr22:28694085 [GRCh38] Chr22:29090073 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.707T>A (p.Leu236Gln) | single nucleotide variant | Familial cancer of breast [RCV005090103]|Hereditary cancer-predisposing syndrome [RCV000222985] | Chr22:28711994 [GRCh38] Chr22:29107982 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+140G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209351] | Chr22:28694987 [GRCh38] Chr22:29090975 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909-74T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209450] | Chr22:28700011 [GRCh38] Chr22:29095999 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.592+1705C>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209478] | Chr22:28723272 [GRCh38] Chr22:29119260 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-7+136T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209778] | Chr22:28741633 [GRCh38] Chr22:29137621 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) | single nucleotide variant | Familial cancer of breast [RCV000807751]|Hereditary cancer-predisposing syndrome [RCV000214665]|not provided [RCV000759771]|not specified [RCV005237749] | Chr22:28696964 [GRCh38] Chr22:29092952 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1134C>T (p.Thr378=) | single nucleotide variant | Familial cancer of breast [RCV001485674]|Hereditary cancer-predisposing syndrome [RCV000214722] | Chr22:28695835 [GRCh38] Chr22:29091823 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) | single nucleotide variant | Familial cancer of breast [RCV000468739]|Hereditary cancer-predisposing syndrome [RCV000214724] | Chr22:28734414 [GRCh38] Chr22:29130402 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala) | single nucleotide variant | Familial cancer of breast [RCV003500514]|Hereditary cancer-predisposing syndrome [RCV000214725]|not provided [RCV001284136] | Chr22:28696948 [GRCh38] Chr22:29092936 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) | single nucleotide variant | Familial cancer of breast [RCV000696869]|Hereditary cancer-predisposing syndrome [RCV000214765]|not provided [RCV000585913]|not specified [RCV001175354] | Chr22:28734564 [GRCh38] Chr22:29130552 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414482]|Familial cancer of breast [RCV000555568]|Hereditary cancer-predisposing syndrome [RCV000216512] | Chr22:28734438 [GRCh38] Chr22:29130426 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.945G>T (p.Gly315=) | single nucleotide variant | Familial cancer of breast [RCV001238036]|Hereditary cancer-predisposing syndrome [RCV000216514] | Chr22:28699901 [GRCh38] Chr22:29095889 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu) | single nucleotide variant | Familial cancer of breast [RCV000795561]|Hereditary cancer-predisposing syndrome [RCV000218891] | Chr22:28696903 [GRCh38] Chr22:29092891 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004776435]|Familial cancer of breast [RCV000696110]|Hereditary breast ovarian cancer syndrome [RCV001030684]|Hereditary cancer-predisposing syndrome [RCV000218902]|not provided [RCV000480778]|not specified [RCV005406960] | Chr22:28703527 [GRCh38] Chr22:29099515 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) | single nucleotide variant | Familial cancer of breast [RCV000663138]|Hereditary cancer-predisposing syndrome [RCV000218911]|not provided [RCV000222824] | Chr22:28734517 [GRCh38] Chr22:29130505 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025358]|Familial cancer of breast [RCV000545025]|Hereditary breast ovarian cancer syndrome [RCV001030624]|Hereditary cancer-predisposing syndrome [RCV000221402]|not specified [RCV001193684] | Chr22:28695774 [GRCh38] Chr22:29091762 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414485]|Familial cancer of breast [RCV000635982]|Hereditary cancer-predisposing syndrome [RCV000221424]|not specified [RCV000418461] | Chr22:28725270 [GRCh38] Chr22:29121258 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) | duplication | Familial cancer of breast [RCV001065399]|Hereditary cancer-predisposing syndrome [RCV000574687]|not provided [RCV000223018] | Chr22:28734445..28734446 [GRCh38] Chr22:29130433..29130434 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys) | single nucleotide variant | Familial cancer of breast [RCV001854691]|Hereditary cancer-predisposing syndrome [RCV000223071]|not provided [RCV001354931] | Chr22:28695162 [GRCh38] Chr22:29091150 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.387G>A (p.Leu129=) | single nucleotide variant | Familial cancer of breast [RCV000929339]|Hereditary cancer-predisposing syndrome [RCV000223088] | Chr22:28725300 [GRCh38] Chr22:29121288 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) | single nucleotide variant | Familial cancer of breast [RCV001343023]|Hereditary cancer-predisposing syndrome [RCV000223114]|not provided [RCV000481522] | Chr22:28695150 [GRCh38] Chr22:29091138 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=) | single nucleotide variant | Familial cancer of breast [RCV001443967]|Hereditary cancer-predisposing syndrome [RCV004023839] | Chr22:28696946 [GRCh38] Chr22:29092934 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.909-61T>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209634] | Chr22:28699998 [GRCh38] Chr22:29095986 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+121T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209697] | Chr22:28695006 [GRCh38] Chr22:29090994 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1096-129A>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209754]|not provided [RCV001812215] | Chr22:28696002 [GRCh38] Chr22:29091990 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-6-3504A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000209801] | Chr22:28738231 [GRCh38] Chr22:29134219 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn) | single nucleotide variant | Familial cancer of breast [RCV000688848]|Hereditary cancer-predisposing syndrome [RCV000214852]|not provided [RCV002262809] | Chr22:28695821 [GRCh38] Chr22:29091809 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) | single nucleotide variant | CHEK2-related disorder [RCV004532805]|Familial cancer of breast [RCV000978774]|Hereditary cancer-predisposing syndrome [RCV000214889]|not specified [RCV000610859] | Chr22:28734695 [GRCh38] Chr22:29130683 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414483]|Familial cancer of breast [RCV000465325]|Hereditary cancer-predisposing syndrome [RCV000214895]|not provided [RCV001711509]|not specified [RCV000440523] | Chr22:28687936 [GRCh38] Chr22:29083924 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1220C>T (p.Ala407Val) | single nucleotide variant | Familial cancer of breast [RCV001854700]|Hereditary cancer-predisposing syndrome [RCV000214948] | Chr22:28695749 [GRCh38] Chr22:29091737 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) | single nucleotide variant | Familial cancer of breast [RCV001438069]|Hereditary cancer-predisposing syndrome [RCV000216612]|not specified [RCV000611282] | Chr22:28699921 [GRCh38] Chr22:29095909 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=) | single nucleotide variant | Familial cancer of breast [RCV001409242]|Hereditary cancer-predisposing syndrome [RCV000216731] | Chr22:28694107 [GRCh38] Chr22:29090095 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.908+1G>T | single nucleotide variant | Familial cancer of breast [RCV003335267]|Hereditary breast ovarian cancer syndrome [RCV002282061]|Hereditary cancer-predisposing syndrome [RCV001018802]|not provided [RCV000219083] | Chr22:28703504 [GRCh38] Chr22:29099492 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.372del (p.Phe125fs) | deletion | Familial cancer of breast [RCV000810666]|Hereditary cancer-predisposing syndrome [RCV003165578]|not provided [RCV000221519] | Chr22:28725315 [GRCh38] Chr22:29121303 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001788089]|Familial cancer of breast [RCV000459190]|Hereditary cancer-predisposing syndrome [RCV000221570]|not provided [RCV000589153] | Chr22:28725091 [GRCh38] Chr22:29121079 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile) | single nucleotide variant | Familial cancer of breast [RCV000471573]|Hereditary cancer-predisposing syndrome [RCV000223247] | Chr22:28694091 [GRCh38] Chr22:29090079 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000022.10:g.(?_29095820)_(29130715_?)del | deletion | Familial cancer of breast [RCV000543787] | Chr22:29095820..29130715 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) | single nucleotide variant | Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246836]|Familial cancer of breast [RCV000576520]|Hereditary breast ovarian cancer syndrome [RCV005090100]|Hereditary cancer-predisposing syndrome [RCV000215015]|Uterine corpus cancer [RCV003128155] | Chr22:28703519 [GRCh38] Chr22:29099507 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.222T>C (p.Ile74=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005361309]|Familial cancer of breast [RCV001499395]|Hereditary cancer-predisposing syndrome [RCV000216855]|not specified [RCV000601017] | Chr22:28734500 [GRCh38] Chr22:29130488 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) | deletion | Familial cancer of breast [RCV000635697]|Hereditary cancer-predisposing syndrome [RCV000219196]|not provided [RCV000255563] | Chr22:28703537..28703538 [GRCh38] Chr22:29099525..29099526 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.777T>C (p.Gly259=) | single nucleotide variant | Familial cancer of breast [RCV001470569]|Hereditary cancer-predisposing syndrome [RCV000221614]|not specified [RCV000427555] | Chr22:28711924 [GRCh38] Chr22:29107912 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.616G>A (p.Val206Ile) | single nucleotide variant | Familial cancer of breast [RCV000635649]|Hereditary cancer-predisposing syndrome [RCV000221751] | Chr22:28719462 [GRCh38] Chr22:29115450 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.517G>A (p.Glu173Lys) | single nucleotide variant | Familial cancer of breast [RCV001317364]|Hereditary cancer-predisposing syndrome [RCV000223336] | Chr22:28725052 [GRCh38] Chr22:29121040 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) | deletion | Familial cancer of breast [RCV003335238]|Hereditary cancer-predisposing syndrome [RCV000223384] | Chr22:28695772 [GRCh38] Chr22:29091760 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg) | single nucleotide variant | Familial cancer of breast [RCV001865716]|Hereditary cancer-predisposing syndrome [RCV000562095]|not specified [RCV003320192] | Chr22:28696980 [GRCh38] Chr22:29092968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) | insertion | Familial cancer of breast [RCV003335246]|Hereditary cancer-predisposing syndrome [RCV000217042] | Chr22:28687970..28687971 [GRCh38] Chr22:29083958..29083959 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.108G>A (p.Gln36=) | single nucleotide variant | Familial cancer of breast [RCV002057210]|Hereditary cancer-predisposing syndrome [RCV000219322]|not specified [RCV000606978] | Chr22:28734614 [GRCh38] Chr22:29130602 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu) | single nucleotide variant | Familial cancer of breast [RCV000685658]|Hereditary cancer-predisposing syndrome [RCV000219327] | Chr22:28712006 [GRCh38] Chr22:29107994 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.920del (p.Gly307fs) | deletion | Familial cancer of breast [RCV000635873]|Hereditary cancer-predisposing syndrome [RCV000219380] | Chr22:28699926 [GRCh38] Chr22:29095914 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) | deletion | Familial cancer of breast [RCV000547049]|Hereditary cancer-predisposing syndrome [RCV000219411]|not provided [RCV000254757] | Chr22:28695165 [GRCh38] Chr22:29091153 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) | single nucleotide variant | Familial cancer of breast [RCV000229454]|Hereditary cancer-predisposing syndrome [RCV000568332]|not provided [RCV001795369] | Chr22:28696924 [GRCh38] Chr22:29092912 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=) | single nucleotide variant | Familial cancer of breast [RCV000229695]|Hereditary cancer-predisposing syndrome [RCV000561613]|not provided [RCV004999153] | Chr22:28695233 [GRCh38] Chr22:29091221 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.683+1G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV003333745]|Familial cancer of breast [RCV000229878]|Hereditary breast ovarian cancer syndrome [RCV005406979]|Hereditary cancer-predisposing syndrome [RCV000571803] | Chr22:28719394 [GRCh38] Chr22:29115382 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) | single nucleotide variant | Familial cancer of breast [RCV000230229]|Hereditary cancer-predisposing syndrome [RCV000573507] | Chr22:28711939 [GRCh38] Chr22:29107927 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1260-6del | deletion | Familial cancer of breast [RCV000228232]|Hereditary cancer-predisposing syndrome [RCV000771321]|not provided [RCV000480678] | Chr22:28695248 [GRCh38] Chr22:29091236 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.827T>G (p.Ile276Ser) | single nucleotide variant | Familial cancer of breast [RCV000230738]|Hereditary cancer-predisposing syndrome [RCV001027363] | Chr22:28710025 [GRCh38] Chr22:29106013 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) | microsatellite | CHEK2-related cancer predisposition [RCV005361458]|Familial cancer of breast [RCV000231095]|Hereditary cancer-predisposing syndrome [RCV000569380]|Malignant tumor of breast [RCV001357063]|not provided [RCV002307465] | Chr22:28703526..28703528 [GRCh38] Chr22:29099514..29099516 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr) | single nucleotide variant | Familial cancer of breast [RCV000229227]|Hereditary cancer-predisposing syndrome [RCV000579464] | Chr22:28734697 [GRCh38] Chr22:29130685 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly) | single nucleotide variant | Familial cancer of breast [RCV000231745]|Hereditary cancer-predisposing syndrome [RCV000580448] | Chr22:28695738 [GRCh38] Chr22:29091726 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005025393]|Familial cancer of breast [RCV000229558]|Hereditary cancer-predisposing syndrome [RCV003165640] | Chr22:28711991 [GRCh38] Chr22:29107979 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) | single nucleotide variant | Familial cancer of breast [RCV000229971]|Hereditary cancer-predisposing syndrome [RCV000582604]|not provided [RCV004767187]|not specified [RCV002229363] | Chr22:28725359 [GRCh38] Chr22:29121347 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.240T>G (p.Pro80=) | single nucleotide variant | Familial cancer of breast [RCV001483683]|Hereditary cancer-predisposing syndrome [RCV000776454] | Chr22:28734482 [GRCh38] Chr22:29130470 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.3(CHEK2):c.320-?_*154+?dup | duplication | Familial cancer of breast [RCV000225783] | uncertain significance | |
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=) | single nucleotide variant | Familial cancer of breast [RCV001441649]|Hereditary cancer-predisposing syndrome [RCV003584580] | Chr22:28689180 [GRCh38] Chr22:29085168 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn) | single nucleotide variant | Familial cancer of breast [RCV000233086]|Hereditary cancer-predisposing syndrome [RCV002411054]|not specified [RCV001192413] | Chr22:28734645 [GRCh38] Chr22:29130633 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer) | inversion | Familial cancer of breast [RCV000233221]|Hereditary cancer-predisposing syndrome [RCV002379014]|Predisposition to cancer [RCV001775104]|not provided [RCV001753705] | Chr22:28695127..28695128 [GRCh38] Chr22:29091115..29091116 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.188T>C (p.Leu63Ser) | single nucleotide variant | Familial cancer of breast [RCV000231926] | Chr22:28734534 [GRCh38] Chr22:29130522 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1240G>A (p.Gly414Arg) | single nucleotide variant | Familial cancer of breast [RCV000226640]|Hereditary cancer-predisposing syndrome [RCV000565206]|not provided [RCV004999152] | Chr22:28695729 [GRCh38] Chr22:29091717 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg) | single nucleotide variant | Familial cancer of breast [RCV000233610]|Hereditary cancer-predisposing syndrome [RCV002379013]|not provided [RCV003477830] | Chr22:28695195 [GRCh38] Chr22:29091183 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) | single nucleotide variant | Familial cancer of breast [RCV000232004]|Hereditary cancer-predisposing syndrome [RCV000573953]|not provided [RCV001762540]|not specified [RCV001797691] | Chr22:28719449 [GRCh38] Chr22:29115437 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-10C>G | single nucleotide variant | Familial cancer of breast [RCV000233752]|Familial cancer of breast [RCV002494653]|Hereditary cancer-predisposing syndrome [RCV000580112]|not provided [RCV001284622]|not specified [RCV000442363] | Chr22:28703576 [GRCh38] Chr22:29099564 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_007194.3(CHEK2):c.593-?_*154dup1194 | duplication | Familial cancer of breast [RCV000234319] | Chr22:28687743..28719485 [GRCh38] Chr22:29083731..29115473 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1188del (p.Val397fs) | deletion | Familial cancer of breast [RCV000234460]|Hereditary cancer-predisposing syndrome [RCV000492286]|not provided [RCV004725114] | Chr22:28695781 [GRCh38] Chr22:29091769 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.847-1G>A | single nucleotide variant | Breast carcinoma [RCV001579299]|Familial cancer of breast [RCV000227592]|Hereditary cancer-predisposing syndrome [RCV002444910] | Chr22:28703567 [GRCh38] Chr22:29099555 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.793-3A>G | single nucleotide variant | Familial cancer of breast [RCV000227906]|Hereditary cancer-predisposing syndrome [RCV002418020] | Chr22:28710062 [GRCh38] Chr22:29106050 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) | single nucleotide variant | Familial cancer of breast [RCV000234645]|Hereditary cancer-predisposing syndrome [RCV002356299]|not specified [RCV000428889] | Chr22:28724987 [GRCh38] Chr22:29120975 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr) | single nucleotide variant | Familial cancer of breast [RCV000225929]|Hereditary cancer-predisposing syndrome [RCV000569800]|not provided [RCV000478108] | Chr22:28696981 [GRCh38] Chr22:29092969 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg) | single nucleotide variant | Familial cancer of breast [RCV000225976]|Hereditary cancer-predisposing syndrome [RCV001025661] | Chr22:28719399 [GRCh38] Chr22:29115387 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=) | single nucleotide variant | Familial cancer of breast [RCV001467033]|Hereditary cancer-predisposing syndrome [RCV003584579] | Chr22:28695805 [GRCh38] Chr22:29091793 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.892T>G (p.Tyr298Asp) | single nucleotide variant | Familial cancer of breast [RCV000233810]|Hereditary cancer-predisposing syndrome [RCV000569745] | Chr22:28703521 [GRCh38] Chr22:29099509 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) | single nucleotide variant | Familial cancer of breast [RCV000226188]|Hereditary cancer-predisposing syndrome [RCV000571196]|not provided [RCV001284138] | Chr22:28695765 [GRCh38] Chr22:29091753 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) | single nucleotide variant | CHEK2-related disorder [RCV004737385]|Familial cancer of breast [RCV000226245]|Hereditary cancer-predisposing syndrome [RCV000561448]|not provided [RCV004999154] | Chr22:28695185 [GRCh38] Chr22:29091173 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) | single nucleotide variant | Familial cancer of breast [RCV000228482]|not provided [RCV001782725] | Chr22:28734514 [GRCh38] Chr22:29130502 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1043T>C (p.Leu348Ser) | single nucleotide variant | Familial cancer of breast [RCV000226665]|Hereditary cancer-predisposing syndrome [RCV000571718] | Chr22:28696953 [GRCh38] Chr22:29092941 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.432T>C (p.Phe144=) | single nucleotide variant | Familial cancer of breast [RCV000227278]|Hereditary cancer-predisposing syndrome [RCV000571486]|not specified [RCV000429008] | Chr22:28725255 [GRCh38] Chr22:29121243 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1100C>G (p.Thr367Ser) | single nucleotide variant | Familial cancer of breast [RCV000227403] | Chr22:28695869 [GRCh38] Chr22:29091857 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.615T>G (p.Thr205=) | single nucleotide variant | Familial cancer of breast [RCV002066583]|Hereditary cancer-predisposing syndrome [RCV001805212]|not specified [RCV000606033] | Chr22:28719463 [GRCh38] Chr22:29115451 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg) | single nucleotide variant | Familial cancer of breast [RCV001374211]|Hereditary cancer-predisposing syndrome [RCV000562844]|not specified [RCV003493652] | Chr22:28710013 [GRCh38] Chr22:29106001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) | single nucleotide variant | Familial cancer of breast [RCV003335487]|Hereditary cancer-predisposing syndrome [RCV000563054]|not provided [RCV001284625] | Chr22:28703505 [GRCh38] Chr22:29099493 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.443G>A (p.Arg148Lys) | single nucleotide variant | Familial cancer of breast [RCV001858098]|Hereditary cancer-predisposing syndrome [RCV000564133] | Chr22:28725244 [GRCh38] Chr22:29121232 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met) | single nucleotide variant | Familial cancer of breast [RCV000687836]|Hereditary cancer-predisposing syndrome [RCV000564147]|not provided [RCV001755943] | Chr22:28695210 [GRCh38] Chr22:29091198 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.555C>A (p.Asn185Lys) | single nucleotide variant | Familial cancer of breast [RCV000635625]|Hereditary cancer-predisposing syndrome [RCV000563647] | Chr22:28725014 [GRCh38] Chr22:29121002 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) | single nucleotide variant | Familial cancer of breast [RCV000709602]|Hereditary cancer-predisposing syndrome [RCV000563789] | Chr22:28734634 [GRCh38] Chr22:29130622 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.1517C>T (p.Thr506Ile) | single nucleotide variant | Familial cancer of breast [RCV000552731]|Hereditary cancer-predisposing syndrome [RCV000566493] | Chr22:28689160 [GRCh38] Chr22:29085148 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) | single nucleotide variant | Familial cancer of breast [RCV000546521]|Hereditary cancer-predisposing syndrome [RCV000572698]|Li-Fraumeni syndrome [RCV005367381]|not provided [RCV001569385] | Chr22:28687961 [GRCh38] Chr22:29083949 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser) | single nucleotide variant | Familial cancer of breast [RCV001069665]|Hereditary cancer-predisposing syndrome [RCV000564763] | Chr22:28725063 [GRCh38] Chr22:29121051 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys) | single nucleotide variant | Familial cancer of breast [RCV001299517]|Hereditary cancer-predisposing syndrome [RCV000566272] | Chr22:28734712 [GRCh38] Chr22:29130700 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-1G>T | single nucleotide variant | Familial cancer of breast [RCV000558415]|not provided [RCV000256104] | Chr22:28699938 [GRCh38] Chr22:29095926 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.444+2T>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607840] | Chr22:28725241 [GRCh38] Chr22:29121229 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.789G>T (p.Glu263Asp) | single nucleotide variant | Familial cancer of breast [RCV003500562]|Hereditary cancer-predisposing syndrome [RCV000564368] | Chr22:28711912 [GRCh38] Chr22:29107900 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=) | single nucleotide variant | Familial cancer of breast [RCV003767181]|Hereditary cancer-predisposing syndrome [RCV000564412] | Chr22:28695143 [GRCh38] Chr22:29091131 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.717G>A (p.Glu239=) | single nucleotide variant | Familial cancer of breast [RCV000635985]|Hereditary cancer-predisposing syndrome [RCV000566763] | Chr22:28711984 [GRCh38] Chr22:29107972 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) | deletion | Familial cancer of breast [RCV000540422]|Hereditary cancer-predisposing syndrome [RCV000564621]|not provided [RCV000657297]|not specified [RCV001002217] | Chr22:28719461..28719462 [GRCh38] Chr22:29115449..29115450 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1096-1G>C | single nucleotide variant | Familial cancer of breast [RCV000541307]|Hereditary breast ovarian cancer syndrome [RCV001280574]|Hereditary cancer-predisposing syndrome [RCV000565718] | Chr22:28695874 [GRCh38] Chr22:29091862 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe) | single nucleotide variant | Familial cancer of breast [RCV000695143]|not provided [RCV000520533] | Chr22:28703557 [GRCh38] Chr22:29099545 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.389T>C (p.Leu130Pro) | single nucleotide variant | Familial cancer of breast [RCV002526781]|Hereditary cancer-predisposing syndrome [RCV000567234] | Chr22:28725298 [GRCh38] Chr22:29121286 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1157G>A (p.Gly386Glu) | single nucleotide variant | Familial cancer of breast [RCV000543181]|Hereditary cancer-predisposing syndrome [RCV000564558] | Chr22:28695812 [GRCh38] Chr22:29091800 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357640]|CHEK2-related disorder [RCV004543261]|Familial cancer of breast [RCV000794841]|Hereditary cancer-predisposing syndrome [RCV000564639]|not provided [RCV001563527] | Chr22:28695753 [GRCh38] Chr22:29091741 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser) | single nucleotide variant | Familial cancer of breast [RCV000635936]|Hereditary cancer-predisposing syndrome [RCV000565900] | Chr22:28687980 [GRCh38] Chr22:29083968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) | single nucleotide variant | Familial cancer of breast [RCV000636041]|Hereditary cancer-predisposing syndrome [RCV000566816]|not provided [RCV001284481] | Chr22:28687909 [GRCh38] Chr22:29083897 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.3(CHEK2):c.1462-?_1542+?del | deletion | Familial cancer of breast [RCV000240587]|not provided [RCV000589230] | Chr22:28689135..28689215 [GRCh38] Chr22:29085123..29085203 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val) | single nucleotide variant | Familial cancer of breast [RCV001237093]|Hereditary cancer-predisposing syndrome [RCV000566929]|not provided [RCV003144384] | Chr22:28734492 [GRCh38] Chr22:29130480 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=) | single nucleotide variant | Familial cancer of breast [RCV001415667]|Hereditary cancer-predisposing syndrome [RCV000566940] | Chr22:28695760 [GRCh38] Chr22:29091748 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.*59C>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414493] | Chr22:28687838 [GRCh38] Chr22:29083826 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val) | single nucleotide variant | Familial cancer of breast [RCV001060228]|Hereditary breast ovarian cancer syndrome [RCV005251113]|Hereditary cancer-predisposing syndrome [RCV002338819]|not provided [RCV000312579] | Chr22:28695783 [GRCh38] Chr22:29091771 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) | single nucleotide variant | Familial cancer of breast [RCV000475698]|Hereditary cancer-predisposing syndrome [RCV002257624]|not provided [RCV000282416]|not specified [RCV000780189] | Chr22:28734522 [GRCh38] Chr22:29130510 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-25C>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414495] | Chr22:28741787 [GRCh38] Chr22:29137775 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+12A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414494]|Familial cancer of breast [RCV002057798]|not specified [RCV000611685] | Chr22:28694020 [GRCh38] Chr22:29090008 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs) | duplication | not provided [RCV000358352] | Chr22:28695759..28695760 [GRCh38] Chr22:29091747..29091748 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005355581]|Familial cancer of breast [RCV000465362]|Hereditary cancer-predisposing syndrome [RCV000573690]|not provided [RCV000399000]|not specified [RCV001193088] | Chr22:28699838 [GRCh38] Chr22:29095826 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) | single nucleotide variant | Familial cancer of breast [RCV000473696]|Hereditary cancer-predisposing syndrome [RCV000573852]|not provided [RCV000367328]|not specified [RCV003235169] | Chr22:28689215 [GRCh38] Chr22:29085203 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357662]|Familial cancer of breast [RCV000709596]|Hereditary cancer-predisposing syndrome [RCV000568436]|not specified [RCV003320474] | Chr22:28695852 [GRCh38] Chr22:29091840 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.87_107dup (p.Gly37_Ile38insSerSerSerGlnSerGlnGly) | duplication | Familial cancer of breast [RCV001858289]|Hereditary cancer-predisposing syndrome [RCV000568904] | Chr22:28734614..28734615 [GRCh38] Chr22:29130602..29130603 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) | microsatellite | Breast and/or ovarian cancer [RCV001270932]|Familial cancer of breast [RCV001385374]|Hereditary cancer-predisposing syndrome [RCV003584876]|not provided [RCV004720835] | Chr22:28734621..28734622 [GRCh38] Chr22:29130609..29130610 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.344T>G (p.Phe115Cys) | single nucleotide variant | Familial cancer of breast [RCV000804375]|Hereditary cancer-predisposing syndrome [RCV000564748] | Chr22:28725343 [GRCh38] Chr22:29121331 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.657A>G (p.Glu219=) | single nucleotide variant | Familial cancer of breast [RCV000931051]|Hereditary cancer-predisposing syndrome [RCV000567921] | Chr22:28719421 [GRCh38] Chr22:29115409 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.90C>T (p.Gly30=) | single nucleotide variant | Familial cancer of breast [RCV002527983]|Hereditary cancer-predisposing syndrome [RCV000567929] | Chr22:28734632 [GRCh38] Chr22:29130620 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.846+35T>C | single nucleotide variant | not specified [RCV003320516] | Chr22:28709971 [GRCh38] Chr22:29105959 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-6-2A>C | single nucleotide variant | not provided [RCV002281497] | Chr22:28734729 [GRCh38] Chr22:29130717 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln) | single nucleotide variant | Familial cancer of breast [RCV001853957]|Hereditary cancer-predisposing syndrome [RCV003159986]|not provided [RCV000585610] | Chr22:28694044 [GRCh38] Chr22:29090032 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+19A>G | single nucleotide variant | Familial cancer of breast [RCV002063978]|not specified [RCV000603005] | Chr22:28703486 [GRCh38] Chr22:29099474 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=) | single nucleotide variant | Familial cancer of breast [RCV001481950]|Hereditary cancer-predisposing syndrome [RCV000568632] | Chr22:28695218 [GRCh38] Chr22:29091206 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) | single nucleotide variant | Familial cancer of breast [RCV003335491]|Hereditary cancer-predisposing syndrome [RCV000568296] | Chr22:28699885 [GRCh38] Chr22:29095873 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs) | deletion | Familial cancer of breast [RCV003315495]|Hereditary cancer-predisposing syndrome [RCV004949058] | Chr22:28719452..28719455 [GRCh38] Chr22:29115440..29115443 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.-44G>C | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414496] | Chr22:28741806 [GRCh38] Chr22:29137794 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1550C>G (p.Thr517Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000568694] | Chr22:28687979 [GRCh38] Chr22:29083967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.555C>G (p.Asn185Lys) | single nucleotide variant | Familial cancer of breast [RCV001865715]|Hereditary cancer-predisposing syndrome [RCV000566863] | Chr22:28725014 [GRCh38] Chr22:29121002 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909G>A (p.Leu303=) | single nucleotide variant | Familial cancer of breast [RCV001858096]|Hereditary cancer-predisposing syndrome [RCV000567710] | Chr22:28699937 [GRCh38] Chr22:29095925 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu) | single nucleotide variant | Familial cancer of breast [RCV001211302]|Hereditary cancer-predisposing syndrome [RCV000579658] | Chr22:28725030 [GRCh38] Chr22:29121018 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser) | single nucleotide variant | Familial cancer of breast [RCV001348593]|Hereditary cancer-predisposing syndrome [RCV000580033] | Chr22:28694093 [GRCh38] Chr22:29090081 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357725]|Familial cancer of breast [RCV002272294]|Hereditary cancer-predisposing syndrome [RCV000580063] | Chr22:28695791 [GRCh38] Chr22:29091779 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+1G>C | single nucleotide variant | Familial cancer of breast [RCV001867911]|Hereditary breast ovarian cancer syndrome [RCV000589468] | Chr22:28703504 [GRCh38] Chr22:29099492 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1542+7G>A | single nucleotide variant | Familial cancer of breast [RCV001442837]|Hereditary cancer-predisposing syndrome [RCV000582133]|not specified [RCV001797754] | Chr22:28689128 [GRCh38] Chr22:29085116 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) | single nucleotide variant | Familial cancer of breast [RCV001478392]|Hereditary cancer-predisposing syndrome [RCV000582089]|not provided [RCV001284482] | Chr22:28734551 [GRCh38] Chr22:29130539 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.793-13C>T | single nucleotide variant | Familial cancer of breast [RCV005248350]|Hereditary cancer-predisposing syndrome [RCV000583855] | Chr22:28710072 [GRCh38] Chr22:29106060 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1259+17T>C | single nucleotide variant | Familial cancer of breast [RCV002061806]|Hereditary cancer-predisposing syndrome [RCV000583897]|not specified [RCV000609867] | Chr22:28695693 [GRCh38] Chr22:29091681 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.792+1G>A | single nucleotide variant | Familial cancer of breast [RCV000801436]|Gastric cancer [RCV003159980]|Hereditary cancer-predisposing syndrome [RCV000583981] | Chr22:28711908 [GRCh38] Chr22:29107896 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.592+16T>G | single nucleotide variant | Familial cancer of breast [RCV005091502]|Hereditary cancer-predisposing syndrome [RCV000583915] | Chr22:28724961 [GRCh38] Chr22:29120949 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) | single nucleotide variant | CHEK2-related disorder [RCV004543306]|Familial cancer of breast [RCV001051029]|Hereditary cancer-predisposing syndrome [RCV002395509]|not provided [RCV000587181] | Chr22:28694063 [GRCh38] Chr22:29090051 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) | single nucleotide variant | Familial cancer of breast [RCV001236319]|Hereditary cancer-predisposing syndrome [RCV000579443]|not provided [RCV001692210] | Chr22:28695157 [GRCh38] Chr22:29091145 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr) | single nucleotide variant | Familial cancer of breast [RCV003500579]|Hereditary cancer-predisposing syndrome [RCV000582202] | Chr22:28699854 [GRCh38] Chr22:29095842 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-16T>C | single nucleotide variant | Familial cancer of breast [RCV002061814]|Hereditary cancer-predisposing syndrome [RCV000582268] | Chr22:28712033 [GRCh38] Chr22:29108021 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.673A>G (p.Thr225Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000582401] | Chr22:28719405 [GRCh38] Chr22:29115393 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000583970] | Chr22:28689194..28689195 [GRCh38] Chr22:29085182..29085183 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.592+5TAT[2] | microsatellite | Familial cancer of breast [RCV002061811]|Hereditary cancer-predisposing syndrome [RCV000584041]|not provided [RCV001637093] | Chr22:28724964..28724966 [GRCh38] Chr22:29120952..29120954 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.908+11A>T | single nucleotide variant | Familial cancer of breast [RCV003607331]|Hereditary cancer-predisposing syndrome [RCV000584074] | Chr22:28703494 [GRCh38] Chr22:29099482 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+3865T>C | single nucleotide variant | CHEK2-related disorder [RCV004543289]|Hereditary cancer-predisposing syndrome [RCV000584203] | Chr22:28730538 [GRCh38] Chr22:29126526 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1259+1G>A | single nucleotide variant | Familial cancer of breast [RCV001860142]|Hereditary cancer-predisposing syndrome [RCV002431744]|Li-Fraumeni syndrome [RCV000587596] | Chr22:28695709 [GRCh38] Chr22:29091697 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) | deletion | Familial cancer of breast [RCV001858095]|Hereditary cancer-predisposing syndrome [RCV000566049]|not provided [RCV003478205]|not specified [RCV003230543] | Chr22:28695721..28695723 [GRCh38] Chr22:29091709..29091711 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.576A>G (p.Ser192=) | single nucleotide variant | Familial cancer of breast [RCV001407921]|Hereditary cancer-predisposing syndrome [RCV000566128] | Chr22:28724993 [GRCh38] Chr22:29120981 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798901]|Familial cancer of breast [RCV001443690]|Hereditary cancer-predisposing syndrome [RCV002257848]|not provided [RCV000579370]|not specified [RCV000780179] | Chr22:28719466 [GRCh38] Chr22:29115454 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His) | single nucleotide variant | Familial cancer of breast [RCV002529097]|Hereditary cancer-predisposing syndrome [RCV000580180] | Chr22:28695190 [GRCh38] Chr22:29091178 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1035C>T (p.His345=) | single nucleotide variant | CHEK2-related disorder [RCV004543288]|Familial cancer of breast [RCV000636020]|Hereditary cancer-predisposing syndrome [RCV000582436] | Chr22:28696961 [GRCh38] Chr22:29092949 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) | single nucleotide variant | Familial cancer of breast [RCV001223674]|Hereditary cancer-predisposing syndrome [RCV000582359]|not provided [RCV003478315] | Chr22:28711991 [GRCh38] Chr22:29107979 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+2T>A | single nucleotide variant | Familial cancer of breast [RCV000694321]|Hereditary cancer-predisposing syndrome [RCV000582469] | Chr22:28695125 [GRCh38] Chr22:29091113 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000582445] | Chr22:28734632..28734636 [GRCh38] Chr22:29130620..29130624 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001788295]|CHEK2-related cancer predisposition [RCV005027687]|Familial cancer of breast [RCV001386328]|Hereditary cancer-predisposing syndrome [RCV000584130] | Chr22:28711944 [GRCh38] Chr22:29107932 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) | single nucleotide variant | Familial cancer of breast [RCV001399884]|Hereditary cancer-predisposing syndrome [RCV000584329]|not provided [RCV000616292] | Chr22:28725101 [GRCh38] Chr22:29121089 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr) | single nucleotide variant | Familial cancer of breast [RCV001215586]|Hereditary cancer-predisposing syndrome [RCV000584218] | Chr22:28703517 [GRCh38] Chr22:29099505 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027681]|CHEK2-related cancer predisposition [RCV005367433]|Familial cancer of breast [RCV001853875]|Hereditary cancer-predisposing syndrome [RCV000580618]|not provided [RCV001561372] | Chr22:28695872 [GRCh38] Chr22:29091860 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.271_272delinsAA (p.Ala91Asn) | indel | Hereditary cancer-predisposing syndrome [RCV000580671] | Chr22:28734450..28734451 [GRCh38] Chr22:29130438..29130439 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser) | single nucleotide variant | Familial cancer of breast [RCV001056853]|Hereditary cancer-predisposing syndrome [RCV000582495] | Chr22:28734669 [GRCh38] Chr22:29130657 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.792+11A>G | single nucleotide variant | Familial cancer of breast [RCV002061815]|Hereditary cancer-predisposing syndrome [RCV000582548] | Chr22:28711898 [GRCh38] Chr22:29107886 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1096-16T>C | single nucleotide variant | Familial cancer of breast [RCV002529236]|Hereditary cancer-predisposing syndrome [RCV000582631] | Chr22:28695889 [GRCh38] Chr22:29091877 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp) | single nucleotide variant | Familial cancer of breast [RCV001853918]|Hereditary cancer-predisposing syndrome [RCV000582644] | Chr22:28703511 [GRCh38] Chr22:29099499 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+3G>A | single nucleotide variant | Familial cancer of breast [RCV005248349]|Hereditary cancer-predisposing syndrome [RCV000582666] | Chr22:28694029 [GRCh38] Chr22:29090017 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1542+6C>T | single nucleotide variant | Familial cancer of breast [RCV000702180]|Hereditary cancer-predisposing syndrome [RCV000584300] | Chr22:28689129 [GRCh38] Chr22:29085117 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe) | single nucleotide variant | Familial cancer of breast [RCV003607312]|Hereditary cancer-predisposing syndrome [RCV000568640] | Chr22:28695774 [GRCh38] Chr22:29091762 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.876T>C (p.Phe292=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000566454] | Chr22:28703537 [GRCh38] Chr22:29099525 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.10:g.(?_29130385)_(29130715_?)dup | duplication | Familial cancer of breast [RCV000551037] | Chr22:29130385..29130715 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu) | inversion | Hereditary cancer-predisposing syndrome [RCV000580741] | Chr22:28695763..28695764 [GRCh38] Chr22:29091751..29091752 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val) | single nucleotide variant | Familial cancer of breast [RCV001368875]|Hereditary cancer-predisposing syndrome [RCV000580902] | Chr22:28734417 [GRCh38] Chr22:29130405 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) | deletion | Familial cancer of breast [RCV000805624]|Hereditary cancer-predisposing syndrome [RCV000582748]|Hereditary nonpolyposis colon cancer [RCV005357746]|not provided [RCV003493676] | Chr22:28703516..28703520 [GRCh38] Chr22:29099504..29099508 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg) | single nucleotide variant | Familial cancer of breast [RCV000635852]|Hereditary cancer-predisposing syndrome [RCV000582815]|not provided [RCV003237952] | Chr22:28724989 [GRCh38] Chr22:29120977 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6-8T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000582720] | Chr22:28734735 [GRCh38] Chr22:29130723 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+17T>C | single nucleotide variant | Familial cancer of breast [RCV002061810]|Hereditary cancer-predisposing syndrome [RCV000582727] | Chr22:28734386 [GRCh38] Chr22:29130374 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1543-12C>G | single nucleotide variant | Familial cancer of breast [RCV002061809]|Hereditary cancer-predisposing syndrome [RCV000584380] | Chr22:28687998 [GRCh38] Chr22:29083986 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.684-14G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000584407] | Chr22:28712031 [GRCh38] Chr22:29108019 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) | single nucleotide variant | Familial cancer of breast [RCV001405567]|Hereditary cancer-predisposing syndrome [RCV000584556]|not specified [RCV000608969] | Chr22:28719424 [GRCh38] Chr22:29115412 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005034151]|Familial cancer of breast [RCV000778091]|Hereditary cancer-predisposing syndrome [RCV000584578] | Chr22:28734622 [GRCh38] Chr22:29130610 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) | deletion | Familial cancer of breast [RCV003336074]|Hereditary cancer-predisposing syndrome [RCV000584472] | Chr22:28725097..28725118 [GRCh38] Chr22:29121085..29121106 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe) | single nucleotide variant | Familial cancer of breast [RCV003500578]|Hereditary cancer-predisposing syndrome [RCV000584483] | Chr22:28734630 [GRCh38] Chr22:29130618 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) | single nucleotide variant | Familial cancer of breast [RCV000819783]|Hereditary cancer-predisposing syndrome [RCV000581053]|not provided [RCV002221559] | Chr22:28695734 [GRCh38] Chr22:29091722 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser) | single nucleotide variant | Familial cancer of breast [RCV001361432]|Hereditary cancer-predisposing syndrome [RCV000581142]|not provided [RCV005416374]|not specified [RCV003226329] | Chr22:28696941 [GRCh38] Chr22:29092929 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro) | single nucleotide variant | Familial cancer of breast [RCV003767305]|Hereditary cancer-predisposing syndrome [RCV000581177] | Chr22:28734714 [GRCh38] Chr22:29130702 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+1G>T | single nucleotide variant | Familial cancer of breast [RCV000794905]|Hereditary cancer-predisposing syndrome [RCV000581207] | Chr22:28694031 [GRCh38] Chr22:29090019 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.592+12_592+13del | deletion | Hereditary cancer-predisposing syndrome [RCV000582892] | Chr22:28724964..28724965 [GRCh38] Chr22:29120952..29120953 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+18T>A | single nucleotide variant | Familial cancer of breast [RCV000662851]|Hereditary cancer-predisposing syndrome [RCV000582934]|not specified [RCV005231129] | Chr22:28703487 [GRCh38] Chr22:29099475 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1260-18C>G | single nucleotide variant | Familial cancer of breast [RCV003607330]|Hereditary cancer-predisposing syndrome [RCV000584669] | Chr22:28695260 [GRCh38] Chr22:29091248 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-7T>A | single nucleotide variant | Familial cancer of breast [RCV002061813]|Hereditary cancer-predisposing syndrome [RCV000584673] | Chr22:28719492 [GRCh38] Chr22:29115480 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+15_846+16del | microsatellite | Familial cancer of breast [RCV002061816]|Hereditary cancer-predisposing syndrome [RCV000584726] | Chr22:28709990..28709991 [GRCh38] Chr22:29105978..29105979 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1096-10T>C | single nucleotide variant | Familial cancer of breast [RCV000876089]|Hereditary cancer-predisposing syndrome [RCV000581180] | Chr22:28695883 [GRCh38] Chr22:29091871 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.738A>T (p.Val246=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000581227] | Chr22:28711963 [GRCh38] Chr22:29107951 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-2A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005392128]|Familial cancer of breast [RCV001209317]|Hereditary cancer-predisposing syndrome [RCV000583186] | Chr22:28710061 [GRCh38] Chr22:29106049 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter) | single nucleotide variant | Familial cancer of breast [RCV001860143]|Hereditary cancer-predisposing syndrome [RCV002404595]|not provided [RCV000590066] | Chr22:28687947 [GRCh38] Chr22:29083935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+5G>A | single nucleotide variant | Familial cancer of breast [RCV000635676]|Hereditary cancer-predisposing syndrome [RCV002257851]|not provided [RCV000590374] | Chr22:28710001 [GRCh38] Chr22:29105989 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.705G>A (p.Lys235=) | single nucleotide variant | Familial cancer of breast [RCV000981444]|Hereditary cancer-predisposing syndrome [RCV000581349] | Chr22:28711996 [GRCh38] Chr22:29107984 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val) | single nucleotide variant | Familial cancer of breast [RCV001064112]|Hereditary cancer-predisposing syndrome [RCV000581313] | Chr22:28703526 [GRCh38] Chr22:29099514 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser) | single nucleotide variant | Familial cancer of breast [RCV001043988]|Hereditary cancer-predisposing syndrome [RCV000581416] | Chr22:28734448 [GRCh38] Chr22:29130436 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-15_847-14insGG | insertion | Hereditary cancer-predisposing syndrome [RCV000581430] | Chr22:28703580..28703581 [GRCh38] Chr22:29099568..29099569 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1009-20A>G | single nucleotide variant | Familial cancer of breast [RCV002529235]|Hereditary cancer-predisposing syndrome [RCV000583144] | Chr22:28697007 [GRCh38] Chr22:29092995 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1260-20CT[3] | microsatellite | Familial cancer of breast [RCV002061807]|Hereditary cancer-predisposing syndrome [RCV000583225]|not provided [RCV001619802] | Chr22:28695255..28695256 [GRCh38] Chr22:29091243..29091244 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.593-20T>G | single nucleotide variant | Familial cancer of breast [RCV002061812]|Hereditary cancer-predisposing syndrome [RCV000583242] | Chr22:28719505 [GRCh38] Chr22:29115493 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+6TAT[2] | microsatellite | Hereditary cancer-predisposing syndrome [RCV000583259] | Chr22:28709992..28709994 [GRCh38] Chr22:29105980..29105982 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1542+11T>C | single nucleotide variant | Familial cancer of breast [RCV002061808]|Hereditary cancer-predisposing syndrome [RCV000583283] | Chr22:28689124 [GRCh38] Chr22:29085112 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-12T>C | single nucleotide variant | Familial cancer of breast [RCV003500577]|Hereditary cancer-predisposing syndrome [RCV000583293] | Chr22:28710071 [GRCh38] Chr22:29106059 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1259+14T>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005392127]|Familial cancer of breast [RCV002061805]|Hereditary cancer-predisposing syndrome [RCV000583355] | Chr22:28695696 [GRCh38] Chr22:29091684 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1060T>G (p.Leu354Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000583443] | Chr22:28696936 [GRCh38] Chr22:29092924 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.622del (p.Asp208fs) | deletion | Familial cancer of breast [RCV001858287]|Hereditary cancer-predisposing syndrome [RCV000568969]|not provided [RCV004719881] | Chr22:28719456 [GRCh38] Chr22:29115444 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val) | single nucleotide variant | Familial cancer of breast [RCV001224677]|Hereditary cancer-predisposing syndrome [RCV002384286]|not provided [RCV000586813] | Chr22:28695160 [GRCh38] Chr22:29091148 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) | single nucleotide variant | Familial cancer of breast [RCV000636037]|Hereditary cancer-predisposing syndrome [RCV000581518]|not provided [RCV001569123]|not specified [RCV001193686] | Chr22:28711936 [GRCh38] Chr22:29107924 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) | duplication | Breast cancer, susceptibility to [RCV001258052]|Familial cancer of breast [RCV000703607]|Hereditary cancer-predisposing syndrome [RCV000581639] | Chr22:28719471..28719472 [GRCh38] Chr22:29115459..29115460 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.319+6A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000581584] | Chr22:28734397 [GRCh38] Chr22:29130385 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro) | single nucleotide variant | Familial cancer of breast [RCV001215810]|Hereditary cancer-predisposing syndrome [RCV000583422] | Chr22:28734442 [GRCh38] Chr22:29130430 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=) | single nucleotide variant | Familial cancer of breast [RCV001427243]|Hereditary cancer-predisposing syndrome [RCV000583479] | Chr22:28694116 [GRCh38] Chr22:29090104 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1009-14G>C | single nucleotide variant | Familial cancer of breast [RCV003607329]|Hereditary cancer-predisposing syndrome [RCV000581660] | Chr22:28697001 [GRCh38] Chr22:29092989 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe) | single nucleotide variant | Familial cancer of breast [RCV001860082]|Hereditary cancer-predisposing syndrome [RCV000581670] | Chr22:28725325 [GRCh38] Chr22:29121313 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.793-11G>A | single nucleotide variant | Familial cancer of breast [RCV000663321]|Hereditary cancer-predisposing syndrome [RCV000581846]|not provided [RCV000679679] | Chr22:28710070 [GRCh38] Chr22:29106058 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) | single nucleotide variant | Familial cancer of breast [RCV000926794]|Hereditary cancer-predisposing syndrome [RCV000583631]|not specified [RCV000602036] | Chr22:28699850 [GRCh38] Chr22:29095838 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.847-14_847-2del | deletion | Familial cancer of breast [RCV002289861]|Hereditary cancer-predisposing syndrome [RCV000583579] | Chr22:28703568..28703580 [GRCh38] Chr22:29099556..29099568 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1552A>T (p.Ser518Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000583678] | Chr22:28687977 [GRCh38] Chr22:29083965 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala) | single nucleotide variant | Familial cancer of breast [RCV001858166]|Hereditary cancer-predisposing syndrome [RCV000569153] | Chr22:28710038 [GRCh38] Chr22:29106026 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1558A>C (p.Lys520Gln) | single nucleotide variant | Familial cancer of breast [RCV003500550]|Hereditary cancer-predisposing syndrome [RCV000569191] | Chr22:28687971 [GRCh38] Chr22:29083959 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1574G>A (p.Gly525Glu) | single nucleotide variant | Familial cancer of breast [RCV002530252]|Hereditary cancer-predisposing syndrome [RCV000569238] | Chr22:28687955 [GRCh38] Chr22:29083943 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) | deletion | Familial cancer of breast [RCV001217823]|Hereditary cancer-predisposing syndrome [RCV000581889] | Chr22:28695736..28695760 [GRCh38] Chr22:29091724..29091748 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.467A>T (p.Tyr156Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000583776] | Chr22:28725102 [GRCh38] Chr22:29121090 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-3T>C | single nucleotide variant | Familial cancer of breast [RCV001313014]|Hereditary cancer-predisposing syndrome [RCV000583713] | Chr22:28712020 [GRCh38] Chr22:29108008 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1095+1G>T | single nucleotide variant | Familial cancer of breast [RCV002530795]|Hereditary cancer-predisposing syndrome [RCV000583746] | Chr22:28696900 [GRCh38] Chr22:29092888 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly) | single nucleotide variant | Familial cancer of breast [RCV002530937]|Hereditary cancer-predisposing syndrome [RCV004024685]|not provided [RCV000586905] | Chr22:28725334 [GRCh38] Chr22:29121322 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+11T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000581907] | Chr22:28724966 [GRCh38] Chr22:29120954 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+18del | deletion | Familial cancer of breast [RCV002061818]|Hereditary cancer-predisposing syndrome [RCV000581938]|not provided [RCV001672886] | Chr22:28703487 [GRCh38] Chr22:29099475 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1462-12A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005034152]|Familial cancer of breast [RCV001853917]|Hereditary cancer-predisposing syndrome [RCV000581958] | Chr22:28689227 [GRCh38] Chr22:29085215 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) | deletion | Familial cancer of breast [RCV000802961]|Hereditary cancer-predisposing syndrome [RCV000582032]|Malignant tumor of breast [RCV001355310] | Chr22:28710034..28710035 [GRCh38] Chr22:29106022..29106023 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.847-30_847-11dup | duplication | CHEK2-related cancer predisposition [RCV005367438]|Familial cancer of breast [RCV002061817]|Hereditary cancer-predisposing syndrome [RCV000582108]|not provided [RCV001712595] | Chr22:28703576..28703577 [GRCh38] Chr22:29099564..29099565 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.593-9C>T | single nucleotide variant | Familial cancer of breast [RCV000409511]|not provided [RCV000859757] | Chr22:28719494 [GRCh38] Chr22:29115482 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.603T>G (p.Phe201Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571711] | Chr22:28719475 [GRCh38] Chr22:29115463 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.3(CHEK2):c.909delG | deletion | Familial cancer of breast [RCV000409709] | Chr22:28699937 [GRCh38] Chr22:29095925 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1037G>C (p.Arg346Pro) | single nucleotide variant | Familial cancer of breast [RCV000533037] | Chr22:28696959 [GRCh38] Chr22:29092947 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs) | duplication | Familial cancer of breast [RCV000533140] | Chr22:28734566..28734567 [GRCh38] Chr22:29130554..29130555 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1462-20T>C | single nucleotide variant | Familial cancer of breast [RCV000410333]|Hereditary breast ovarian cancer syndrome [RCV002225609]|Hereditary cancer-predisposing syndrome [RCV000582986]|not provided [RCV001613257] | Chr22:28689235 [GRCh38] Chr22:29085223 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1095+19G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005235269]|Familial cancer of breast [RCV000411005]|Hereditary cancer-predisposing syndrome [RCV000582297]|not provided [RCV001528783]|not specified [RCV003493563] | Chr22:28696882 [GRCh38] Chr22:29092870 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1008+13C>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005398500]|Familial cancer of breast [RCV000411567]|Hereditary cancer-predisposing syndrome [RCV000580155]|not specified [RCV000418309] | Chr22:28699825 [GRCh38] Chr22:29095813 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile) | single nucleotide variant | Familial cancer of breast [RCV000533182]|Hereditary cancer-predisposing syndrome [RCV003584653] | Chr22:28719428 [GRCh38] Chr22:29115416 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.817G>C (p.Glu273Gln) | single nucleotide variant | Familial cancer of breast [RCV000525631]|Hereditary cancer-predisposing syndrome [RCV002431574] | Chr22:28710035 [GRCh38] Chr22:29106023 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1108G>C (p.Gly370Arg) | single nucleotide variant | Familial cancer of breast [RCV000529789] | Chr22:28695861 [GRCh38] Chr22:29091849 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.556A>G (p.Asn186Asp) | single nucleotide variant | Familial cancer of breast [RCV000533757]|Hereditary cancer-predisposing syndrome [RCV004023841] | Chr22:28725013 [GRCh38] Chr22:29121001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573147] | Chr22:28725315 [GRCh38] Chr22:29121303 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.384A>G (p.Pro128=) | single nucleotide variant | Familial cancer of breast [RCV000527408]|Hereditary cancer-predisposing syndrome [RCV000777677] | Chr22:28725303 [GRCh38] Chr22:29121291 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1149C>T (p.Thr383=) | single nucleotide variant | Familial cancer of breast [RCV000530568] | Chr22:28695820 [GRCh38] Chr22:29091808 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1312G>A (p.Asp438Asn) | single nucleotide variant | Familial cancer of breast [RCV000803213]|Hereditary cancer-predisposing syndrome [RCV000574814] | Chr22:28695190 [GRCh38] Chr22:29091178 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28725237)_(28725373_?)del | deletion | Familial cancer of breast [RCV000557674] | Chr22:28725237..28725373 [GRCh38] Chr22:29121225..29121361 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.179T>G (p.Leu60Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570813] | Chr22:28734543 [GRCh38] Chr22:29130531 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.137T>G (p.Met46Arg) | single nucleotide variant | Familial cancer of breast [RCV000810443]|Hereditary cancer-predisposing syndrome [RCV000572420] | Chr22:28734585 [GRCh38] Chr22:29130573 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096-10T>A | single nucleotide variant | Familial cancer of breast [RCV000528715] | Chr22:28695883 [GRCh38] Chr22:29091871 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg) | single nucleotide variant | Familial cancer of breast [RCV001056976]|Hereditary cancer-predisposing syndrome [RCV000569480] | Chr22:28694066 [GRCh38] Chr22:29090054 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.884A>G (p.Glu295Gly) | single nucleotide variant | Familial cancer of breast [RCV001063566]|Hereditary cancer-predisposing syndrome [RCV000570976] | Chr22:28703529 [GRCh38] Chr22:29099517 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1573G>A (p.Gly525Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571024] | Chr22:28687956 [GRCh38] Chr22:29083944 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=) | single nucleotide variant | Familial cancer of breast [RCV000898944]|Hereditary cancer-predisposing syndrome [RCV000571033]|Hereditary nonpolyposis colon cancer [RCV005357660] | Chr22:28695841 [GRCh38] Chr22:29091829 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) | indel | Familial cancer of breast [RCV000537997]|Hereditary cancer-predisposing syndrome [RCV000775869]|Malignant tumor of breast [RCV001358524]|not provided [RCV000985700] | Chr22:28695763..28695764 [GRCh38] Chr22:29091751..29091752 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.326_327del (p.Val109fs) | microsatellite | Familial cancer of breast [RCV000538143] | Chr22:28725360..28725361 [GRCh38] Chr22:29121348..29121349 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.14C>G (p.Ser5Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575010] | Chr22:28734708 [GRCh38] Chr22:29130696 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.561T>C (p.Ser187=) | single nucleotide variant | Familial cancer of breast [RCV002060464]|Hereditary cancer-predisposing syndrome [RCV000572748] | Chr22:28725008 [GRCh38] Chr22:29120996 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NC_000022.10:g.(?_29105988)_(29106053_?)del | deletion | Familial cancer of breast [RCV000558606] | Chr22:29105988..29106053 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) | microsatellite | Familial cancer of breast [RCV000576340] | Chr22:28734415..28734418 [GRCh38] Chr22:29130403..29130406 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.931G>C (p.Asp311His) | single nucleotide variant | Familial cancer of breast [RCV002526829]|Hereditary cancer-predisposing syndrome [RCV000571472]|not provided [RCV002476225] | Chr22:28699915 [GRCh38] Chr22:29095903 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1230C>T (p.Cys410=) | single nucleotide variant | Familial cancer of breast [RCV001498084]|Hereditary cancer-predisposing syndrome [RCV000574503] | Chr22:28695739 [GRCh38] Chr22:29091727 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28695121)_(28703572_?)del | deletion | Familial cancer of breast [RCV000541073] | Chr22:28695121..28703572 [GRCh38] Chr22:29091109..29099560 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.812A>C (p.Glu271Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574515] | Chr22:28710040 [GRCh38] Chr22:29106028 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) | deletion | Nephroblastoma [RCV000505568] | Chr22:28695868..28695869 [GRCh38] Chr22:29091856..29091857 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.602T>G (p.Phe201Cys) | single nucleotide variant | Familial cancer of breast [RCV000696718]|Hereditary cancer-predisposing syndrome [RCV000568371] | Chr22:28719476 [GRCh38] Chr22:29115464 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.-27G>A | single nucleotide variant | not specified [RCV000423625] | Chr22:28741789 [GRCh38] Chr22:29137777 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) | single nucleotide variant | Familial cancer of breast [RCV001462828]|Hereditary cancer-predisposing syndrome [RCV001026215]|not specified [RCV000423754] | Chr22:28711975 [GRCh38] Chr22:29107963 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.213C>G (p.Leu71=) | single nucleotide variant | Familial cancer of breast [RCV000969709]|Hereditary cancer-predisposing syndrome [RCV000775889]|not specified [RCV000423790] | Chr22:28734509 [GRCh38] Chr22:29130497 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1260-18C>T | single nucleotide variant | Familial cancer of breast [RCV002062503]|Hereditary cancer-predisposing syndrome [RCV000579956]|not specified [RCV000430957] | Chr22:28695260 [GRCh38] Chr22:29091248 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=) | single nucleotide variant | Familial cancer of breast [RCV002061599]|Hereditary cancer-predisposing syndrome [RCV004609375]|not specified [RCV000444917] | Chr22:28695140 [GRCh38] Chr22:29091128 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=) | single nucleotide variant | Familial cancer of breast [RCV001398089]|Hereditary cancer-predisposing syndrome [RCV002379360]|not specified [RCV000445027] | Chr22:28695134 [GRCh38] Chr22:29091122 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) | single nucleotide variant | Familial cancer of breast [RCV001411776]|Hereditary cancer-predisposing syndrome [RCV000708632]|not specified [RCV000445038] | Chr22:28689156 [GRCh38] Chr22:29085144 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) | single nucleotide variant | Familial cancer of breast [RCV000990399]|Hereditary cancer-predisposing syndrome [RCV001019967]|not specified [RCV000427572] | Chr22:28734623 [GRCh38] Chr22:29130611 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.444+16C>T | single nucleotide variant | not specified [RCV000441487] | Chr22:28725227 [GRCh38] Chr22:29121215 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1543-20C>G | single nucleotide variant | Familial cancer of breast [RCV001861534]|Hereditary cancer-predisposing syndrome [RCV001180797]|not specified [RCV000441668] | Chr22:28688006 [GRCh38] Chr22:29083994 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+7C>T | single nucleotide variant | Familial cancer of breast [RCV000468836]|Hereditary cancer-predisposing syndrome [RCV000579827]|not specified [RCV000424187] | Chr22:28734396 [GRCh38] Chr22:29130384 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.684-20A>G | single nucleotide variant | Familial cancer of breast [RCV002058888]|Hereditary cancer-predisposing syndrome [RCV000580028]|not specified [RCV000431418] | Chr22:28712037 [GRCh38] Chr22:29108025 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-20G>C | single nucleotide variant | not specified [RCV000434793] | Chr22:28741782 [GRCh38] Chr22:29137770 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.*16C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000580101]|not specified [RCV000441946] | Chr22:28687881 [GRCh38] Chr22:29083869 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004577527]|Familial cancer of breast [RCV000576726]|Hereditary cancer-predisposing syndrome [RCV001015209]|not provided [RCV000522849] | Chr22:28734490 [GRCh38] Chr22:29130478 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.908+14T>G | single nucleotide variant | Familial cancer of breast [RCV002062390]|Hereditary cancer-predisposing syndrome [RCV000775873]|not specified [RCV000418151] | Chr22:28703491 [GRCh38] Chr22:29099479 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909-18C>T | single nucleotide variant | Familial cancer of breast [RCV002061582]|not provided [RCV001573298]|not specified [RCV000424305] | Chr22:28699955 [GRCh38] Chr22:29095943 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) | single nucleotide variant | Familial cancer of breast [RCV000476061]|Hereditary cancer-predisposing syndrome [RCV000563064]|not specified [RCV000442145] | Chr22:28689177 [GRCh38] Chr22:29085165 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.444+20G>T | single nucleotide variant | Familial cancer of breast [RCV002061355]|Hereditary cancer-predisposing syndrome [RCV000582007]|not specified [RCV000424625] | Chr22:28725223 [GRCh38] Chr22:29121211 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1259+20C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001180799]|not specified [RCV000435078] | Chr22:28695690 [GRCh38] Chr22:29091678 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-7+10A>G | single nucleotide variant | not specified [RCV000438627] | Chr22:28741759 [GRCh38] Chr22:29137747 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.388C>T (p.Leu130=) | single nucleotide variant | Familial cancer of breast [RCV000539994]|Hereditary cancer-predisposing syndrome [RCV000575675]|not specified [RCV000438715] | Chr22:28725299 [GRCh38] Chr22:29121287 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=) | single nucleotide variant | Familial cancer of breast [RCV001417288]|Hereditary cancer-predisposing syndrome [RCV001017374]|not specified [RCV000442227] | Chr22:28695853 [GRCh38] Chr22:29091841 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) | single nucleotide variant | Familial cancer of breast [RCV000990387] | Chr22:28695786 [GRCh38] Chr22:29091774 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala) | single nucleotide variant | Breast neoplasm [RCV000429856] | Chr22:28696956 [GRCh38] Chr22:29092944 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1375+8T>A | single nucleotide variant | not specified [RCV000418708] | Chr22:28695119 [GRCh38] Chr22:29091107 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-15T>A | single nucleotide variant | Familial cancer of breast [RCV000662854]|Hereditary cancer-predisposing syndrome [RCV000580819]|Li-Fraumeni syndrome [RCV005355752]|not specified [RCV000435307] | Chr22:28719500 [GRCh38] Chr22:29115488 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.592+9A>G | single nucleotide variant | Familial cancer of breast [RCV001089179]|Hereditary cancer-predisposing syndrome [RCV000777676]|not provided [RCV000759043]|not specified [RCV000428609] | Chr22:28724968 [GRCh38] Chr22:29120956 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.978C>T (p.Leu326=) | single nucleotide variant | Familial cancer of breast [RCV001484374]|Hereditary cancer-predisposing syndrome [RCV000565866]|not provided [RCV004584709]|not specified [RCV000419102] | Chr22:28699868 [GRCh38] Chr22:29095856 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.955C>T (p.Leu319=) | single nucleotide variant | Familial cancer of breast [RCV000466051]|not specified [RCV000419114] | Chr22:28699891 [GRCh38] Chr22:29095879 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) | single nucleotide variant | Familial cancer of breast [RCV000635967]|Hereditary cancer-predisposing syndrome [RCV001011883]|not provided [RCV001705557] | Chr22:28689159 [GRCh38] Chr22:29085147 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.792+17G>A | single nucleotide variant | Familial cancer of breast [RCV002063507]|Hereditary cancer-predisposing syndrome [RCV001183960]|not provided [RCV005230357]|not specified [RCV000422055] | Chr22:28711892 [GRCh38] Chr22:29107880 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.792+19C>G | single nucleotide variant | not specified [RCV000422089] | Chr22:28711890 [GRCh38] Chr22:29107878 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1259+7A>G | single nucleotide variant | Familial cancer of breast [RCV002063535]|not specified [RCV000429021] | Chr22:28695703 [GRCh38] Chr22:29091691 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1009-4G>A | single nucleotide variant | Familial cancer of breast [RCV005246977]|Hereditary cancer-predisposing syndrome [RCV004948285]|not specified [RCV000429102] | Chr22:28696991 [GRCh38] Chr22:29092979 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=) | single nucleotide variant | Familial cancer of breast [RCV001404866]|Hereditary cancer-predisposing syndrome [RCV002393024]|not specified [RCV000435896] | Chr22:28689201 [GRCh38] Chr22:29085189 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.908+10A>G | single nucleotide variant | CHEK2-related disorder [RCV004530534]|Familial cancer of breast [RCV000464086]|Hereditary cancer-predisposing syndrome [RCV000771774]|not specified [RCV000435978] | Chr22:28703495 [GRCh38] Chr22:29099483 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.908+19A>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005235282]|Familial cancer of breast [RCV002064942]|Hereditary cancer-predisposing syndrome [RCV000580259]|not specified [RCV000425584] | Chr22:28703486 [GRCh38] Chr22:29099474 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.847-7T>G | single nucleotide variant | Familial cancer of breast [RCV001475129]|not specified [RCV000425715] | Chr22:28703573 [GRCh38] Chr22:29099561 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) | single nucleotide variant | Familial cancer of breast [RCV000929602]|Hereditary cancer-predisposing syndrome [RCV000581106]|not provided [RCV000436224] | Chr22:28725254 [GRCh38] Chr22:29121242 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.793-17T>C | single nucleotide variant | Familial cancer of breast [RCV000662961]|Hereditary cancer-predisposing syndrome [RCV000581701]|not specified [RCV000436257] | Chr22:28710076 [GRCh38] Chr22:29106064 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-17G>A | single nucleotide variant | not specified [RCV000443376] | Chr22:28741779 [GRCh38] Chr22:29137767 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+12T>C | single nucleotide variant | Familial cancer of breast [RCV002060053]|not specified [RCV000443477] | Chr22:28709994 [GRCh38] Chr22:29105982 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1542+16A>G | single nucleotide variant | Familial cancer of breast [RCV001861603]|not specified [RCV000432891] | Chr22:28689119 [GRCh38] Chr22:29085107 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.390G>A (p.Leu130=) | single nucleotide variant | Familial cancer of breast [RCV002062802]|Hereditary cancer-predisposing syndrome [RCV004022405]|not specified [RCV000426161] | Chr22:28725297 [GRCh38] Chr22:29121285 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=) | single nucleotide variant | Familial cancer of breast [RCV001434372]|Hereditary cancer-predisposing syndrome [RCV001012419]|not specified [RCV000426204] | Chr22:28687918 [GRCh38] Chr22:29083906 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1461+8T>C | single nucleotide variant | Familial cancer of breast [RCV000875463]|Hereditary cancer-predisposing syndrome [RCV000775913]|not specified [RCV000436626] | Chr22:28694024 [GRCh38] Chr22:29090012 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+15G>T | single nucleotide variant | not specified [RCV000443811] | Chr22:28695112 [GRCh38] Chr22:29091100 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) | single nucleotide variant | Familial cancer of breast [RCV003335322]|not provided [RCV000432752] | Chr22:28710029 [GRCh38] Chr22:29106017 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.-28C>A | single nucleotide variant | not specified [RCV000433421] | Chr22:28741790 [GRCh38] Chr22:29137778 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) | single nucleotide variant | Familial cancer of breast [RCV000465154]|Hereditary cancer-predisposing syndrome [RCV001012329]|not specified [RCV000436796] | Chr22:28687939 [GRCh38] Chr22:29083927 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.54T>C (p.Cys18=) | single nucleotide variant | Familial cancer of breast [RCV002522612]|not specified [RCV000444090] | Chr22:28734668 [GRCh38] Chr22:29130656 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.593-16C>T | single nucleotide variant | Familial cancer of breast [RCV003500536]|not specified [RCV000423033] | Chr22:28719501 [GRCh38] Chr22:29115489 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.105C>T (p.Ser35=) | single nucleotide variant | Familial cancer of breast [RCV001444110]|Hereditary cancer-predisposing syndrome [RCV002402149]|not specified [RCV000426505] | Chr22:28734617 [GRCh38] Chr22:29130605 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.593-9C>G | single nucleotide variant | Familial cancer of breast [RCV001407203]|not specified [RCV000433602] | Chr22:28719494 [GRCh38] Chr22:29115482 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-7+11T>C | single nucleotide variant | not specified [RCV000433648] | Chr22:28741758 [GRCh38] Chr22:29137746 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-32T>C | single nucleotide variant | not specified [RCV000433668] | Chr22:28741794 [GRCh38] Chr22:29137782 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) | single nucleotide variant | Familial cancer of breast [RCV000467751]|Hereditary cancer-predisposing syndrome [RCV000573352]|not provided [RCV001712184] | Chr22:28695772 [GRCh38] Chr22:29091760 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-7+8A>G | single nucleotide variant | not specified [RCV000440642] | Chr22:28741761 [GRCh38] Chr22:29137749 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1299A>G (p.Gln433=) | single nucleotide variant | Familial cancer of breast [RCV005247007]|Hereditary cancer-predisposing syndrome [RCV004609381]|not specified [RCV000420158] | Chr22:28695203 [GRCh38] Chr22:29091191 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.504C>T (p.Thr168=) | single nucleotide variant | not specified [RCV000420296] | Chr22:28725065 [GRCh38] Chr22:29121053 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-6-20T>C | single nucleotide variant | not specified [RCV000423178] | Chr22:28734747 [GRCh38] Chr22:29130735 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+18T>C | single nucleotide variant | Familial cancer of breast [RCV002063408]|not specified [RCV000423330] | Chr22:28703487 [GRCh38] Chr22:29099475 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+8C>A | single nucleotide variant | Familial cancer of breast [RCV000933216]|not specified [RCV000423336] | Chr22:28734395 [GRCh38] Chr22:29130383 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.-40G>C | single nucleotide variant | not specified [RCV000426838] | Chr22:28741802 [GRCh38] Chr22:29137790 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) | single nucleotide variant | Familial cancer of breast [RCV000551720]|Hereditary cancer-predisposing syndrome [RCV000775906]|not specified [RCV000433776] | Chr22:28699928 [GRCh38] Chr22:29095916 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.*6G>A | single nucleotide variant | Familial cancer of breast [RCV005246944]|Hereditary cancer-predisposing syndrome [RCV000579574]|not specified [RCV000440833] | Chr22:28687891 [GRCh38] Chr22:29083879 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-28C>T | single nucleotide variant | not specified [RCV000440870] | Chr22:28741790 [GRCh38] Chr22:29137778 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+4G>A | single nucleotide variant | Familial cancer of breast [RCV000459808]|Hereditary cancer-predisposing syndrome [RCV000584112]|not provided [RCV004999402]|not specified [RCV000420551] | Chr22:28694028 [GRCh38] Chr22:29090016 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.*19G>A | single nucleotide variant | not specified [RCV000423504] | Chr22:28687878 [GRCh38] Chr22:29083866 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.942G>A (p.Val314=) | single nucleotide variant | Familial cancer of breast [RCV002521549]|Hereditary cancer-predisposing syndrome [RCV002446660]|not specified [RCV000430620] | Chr22:28699904 [GRCh38] Chr22:29095892 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1095+8A>G | single nucleotide variant | Familial cancer of breast [RCV001078507]|Hereditary cancer-predisposing syndrome [RCV000776557]|not specified [RCV000441205] | Chr22:28696893 [GRCh38] Chr22:29092881 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp) | single nucleotide variant | Familial cancer of breast [RCV000462827]|Hereditary cancer-predisposing syndrome [RCV000573606]|Hereditary nonpolyposis colon cancer [RCV005355846]|not provided [RCV004999467] | Chr22:28695773 [GRCh38] Chr22:29091761 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) | single nucleotide variant | Familial cancer of breast [RCV000466569]|Familial cancer of breast [RCV000765619]|Hereditary cancer-predisposing syndrome [RCV000582321]|not provided [RCV004999468] | Chr22:28699909 [GRCh38] Chr22:29095897 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005365329]|Familial cancer of breast [RCV000473992]|Hereditary cancer-predisposing syndrome [RCV000568899]|not provided [RCV003319357] | Chr22:28689172 [GRCh38] Chr22:29085160 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg) | single nucleotide variant | Familial cancer of breast [RCV000473998]|Hereditary cancer-predisposing syndrome [RCV000582868] | Chr22:28734447 [GRCh38] Chr22:29130435 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) | single nucleotide variant | Familial cancer of breast [RCV000474125]|Familial cancer of breast [RCV002481443]|Hereditary cancer-predisposing syndrome [RCV000564322] | Chr22:28712015 [GRCh38] Chr22:29108003 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687743)_(28741834_?)del | deletion | Familial cancer of breast [RCV000197635] | Chr22:28687743..28741834 [GRCh38] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.-7+6T>C | single nucleotide variant | not provided [RCV000483269] | Chr22:28741763 [GRCh38] Chr22:29137751 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28710006)_(28719485_?)del | deletion | Familial cancer of breast [RCV000463075] | Chr22:28710006..28719485 [GRCh38] Chr22:29105994..29115473 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.411A>C (p.Arg137=) | single nucleotide variant | Familial cancer of breast [RCV000463145]|Hereditary cancer-predisposing syndrome [RCV000570218]|not provided [RCV000608278] | Chr22:28725276 [GRCh38] Chr22:29121264 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.772A>T (p.Ile258Phe) | single nucleotide variant | Familial cancer of breast [RCV000466753] | Chr22:28711929 [GRCh38] Chr22:29107917 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) | single nucleotide variant | Familial cancer of breast [RCV000470563]|Hereditary cancer-predisposing syndrome [RCV000575592]|not provided [RCV001729602] | Chr22:28734607 [GRCh38] Chr22:29130595 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr) | single nucleotide variant | Familial cancer of breast [RCV000474200]|Hereditary cancer-predisposing syndrome [RCV000563163]|not specified [RCV002282155] | Chr22:28711952 [GRCh38] Chr22:29107940 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027554]|Familial cancer of breast [RCV000559307]|Hereditary cancer-predisposing syndrome [RCV000574009]|not provided [RCV000479455] | Chr22:28699912 [GRCh38] Chr22:29095900 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+4A>G | single nucleotide variant | Familial cancer of breast [RCV001856859]|Hereditary cancer-predisposing syndrome [RCV002367643]|not provided [RCV000483804] | Chr22:28719391 [GRCh38] Chr22:29115379 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1278T>G (p.Pro426=) | single nucleotide variant | Familial cancer of breast [RCV000459366] | Chr22:28695224 [GRCh38] Chr22:29091212 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.316C>G (p.Leu106Val) | single nucleotide variant | Familial cancer of breast [RCV000459397]|Hereditary nonpolyposis colon cancer [RCV005365330] | Chr22:28734406 [GRCh38] Chr22:29130394 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.119G>C (p.Ser40Thr) | single nucleotide variant | Familial cancer of breast [RCV000463217] | Chr22:28734603 [GRCh38] Chr22:29130591 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) | single nucleotide variant | Familial cancer of breast [RCV000467127]|Hereditary cancer-predisposing syndrome [RCV000563610]|not provided [RCV001764430] | Chr22:28689135 [GRCh38] Chr22:29085123 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687743)_(28687986_?)del | deletion | Familial cancer of breast [RCV000470664] | Chr22:28687743..28687986 [GRCh38] Chr22:29083731..29083974 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp) | single nucleotide variant | Familial cancer of breast [RCV000470668]|Hereditary cancer-predisposing syndrome [RCV000775754] | Chr22:28724983 [GRCh38] Chr22:29120971 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu) | single nucleotide variant | Familial cancer of breast [RCV001856822]|Hereditary cancer-predisposing syndrome [RCV000574107]|not provided [RCV000479779] | Chr22:28695234 [GRCh38] Chr22:29091222 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.486_488del (p.His163del) | deletion | Familial cancer of breast [RCV001320639]|Hereditary cancer-predisposing syndrome [RCV004609397]|not provided [RCV000479812] | Chr22:28725081..28725083 [GRCh38] Chr22:29121069..29121071 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg) | single nucleotide variant | Familial cancer of breast [RCV000635618]|Hereditary cancer-predisposing syndrome [RCV000561532]|not provided [RCV000479824] | Chr22:28696912 [GRCh38] Chr22:29092900 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly) | single nucleotide variant | Familial cancer of breast [RCV001342431]|Hereditary cancer-predisposing syndrome [RCV002341132]|not provided [RCV000479954] | Chr22:28695773 [GRCh38] Chr22:29091761 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-15T>A | single nucleotide variant | Familial cancer of breast [RCV003766665]|not provided [RCV000479976] | Chr22:28725139 [GRCh38] Chr22:29121127 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.-7+8A>C | single nucleotide variant | not provided [RCV000483845] | Chr22:28741761 [GRCh38] Chr22:29137749 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593-20_593-18del | deletion | Familial cancer of breast [RCV002063691]|Hereditary cancer-predisposing syndrome [RCV000579706]|not specified [RCV000484078] | Chr22:28719503..28719505 [GRCh38] Chr22:29115491..29115493 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.445-9C>G | single nucleotide variant | Familial cancer of breast [RCV001079878]|Hereditary cancer-predisposing syndrome [RCV001180854]|not provided [RCV000484094] | Chr22:28725133 [GRCh38] Chr22:29121121 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) | single nucleotide variant | Familial cancer of breast [RCV000459664]|Hereditary cancer-predisposing syndrome [RCV000775719] | Chr22:28725351 [GRCh38] Chr22:29121339 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) | single nucleotide variant | Familial cancer of breast [RCV000463397]|Hereditary cancer-predisposing syndrome [RCV000777668]|not provided [RCV003478037]|not specified [RCV000609779] | Chr22:28696913 [GRCh38] Chr22:29092901 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala) | single nucleotide variant | Familial cancer of breast [RCV000463493]|Hereditary cancer-predisposing syndrome [RCV002374790] | Chr22:28725290 [GRCh38] Chr22:29121278 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-10T>C | single nucleotide variant | CHEK2-related cancer predisposition [RCV005355901]|Familial cancer of breast [RCV000463557]|Hereditary cancer-predisposing syndrome [RCV000579962]|not provided [RCV001576569]|not specified [RCV005230435] | Chr22:28725134 [GRCh38] Chr22:29121122 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.276del (p.Trp93fs) | deletion | Familial cancer of breast [RCV000467195]|Hereditary cancer-predisposing syndrome [RCV002436442] | Chr22:28734446 [GRCh38] Chr22:29130434 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.847-10del | deletion | Familial cancer of breast [RCV000467259] | Chr22:28703576 [GRCh38] Chr22:29099564 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn) | single nucleotide variant | Familial cancer of breast [RCV000470829]|Hereditary cancer-predisposing syndrome [RCV003278816] | Chr22:28734675 [GRCh38] Chr22:29130663 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys) | single nucleotide variant | Familial cancer of breast [RCV000470930]|Hereditary cancer-predisposing syndrome [RCV000580420] | Chr22:28725349 [GRCh38] Chr22:29121337 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val) | single nucleotide variant | Familial cancer of breast [RCV000474645]|Hereditary cancer-predisposing syndrome [RCV003278817]|not provided [RCV003736778] | Chr22:28711931 [GRCh38] Chr22:29107919 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-1G>A | single nucleotide variant | Familial cancer of breast [RCV000474737]|Hereditary cancer-predisposing syndrome [RCV000773145] | Chr22:28689216 [GRCh38] Chr22:29085204 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1152A>T (p.Leu384Phe) | single nucleotide variant | Familial cancer of breast [RCV000474755]|Hereditary cancer-predisposing syndrome [RCV001010001] | Chr22:28695817 [GRCh38] Chr22:29091805 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser) | single nucleotide variant | Familial cancer of breast [RCV000474804]|Hereditary cancer-predisposing syndrome [RCV000584064] | Chr22:28725343 [GRCh38] Chr22:29121331 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+17dup | duplication | not specified [RCV000480082] | Chr22:28741751..28741752 [GRCh38] Chr22:29137739..29137740 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del) | deletion | Familial cancer of breast [RCV002525757]|not provided [RCV000480094] | Chr22:28734452..28734457 [GRCh38] Chr22:29130440..29130445 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val) | single nucleotide variant | Familial cancer of breast [RCV000635648]|Hereditary cancer-predisposing syndrome [RCV000563586]|not provided [RCV000480115] | Chr22:28703557 [GRCh38] Chr22:29099545 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu) | single nucleotide variant | Familial cancer of breast [RCV001231948]|Hereditary cancer-predisposing syndrome [RCV000564409]|not provided [RCV000480218] | Chr22:28695717 [GRCh38] Chr22:29091705 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.374T>G (p.Phe125Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002350066]|not provided [RCV000484314] | Chr22:28725313 [GRCh38] Chr22:29121301 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) | duplication | Familial cancer of breast [RCV000456188]|Hereditary breast ovarian cancer syndrome [RCV002222517]|Hereditary cancer-predisposing syndrome [RCV001188944]|not provided [RCV000759773] | Chr22:28734690..28734691 [GRCh38] Chr22:29130678..29130679 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1376-1G>C | single nucleotide variant | Familial cancer of breast [RCV000456304]|Hereditary cancer-predisposing syndrome [RCV000572752] | Chr22:28694118 [GRCh38] Chr22:29090106 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004720258]|Familial cancer of breast [RCV000459842]|Hereditary cancer-predisposing syndrome [RCV000573624]|Malignant tumor of breast [RCV001355873]|not provided [RCV003441879]|not specified [RCV001821280] | Chr22:28734714 [GRCh38] Chr22:29130702 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027525]|Familial cancer of breast [RCV000467590]|Hereditary cancer-predisposing syndrome [RCV000569776]|Malignant tumor of breast [RCV001358131]|not provided [RCV000588837]|not specified [RCV003320467] | Chr22:28694110 [GRCh38] Chr22:29090098 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.823del (p.Glu275fs) | deletion | Familial cancer of breast [RCV000474863]|Hereditary cancer-predisposing syndrome [RCV001027311]|not provided [RCV003320468] | Chr22:28710029 [GRCh38] Chr22:29106017 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) | insertion | Familial cancer of breast [RCV003335363]|Hereditary cancer-predisposing syndrome [RCV002455926]|not provided [RCV000482812] | Chr22:28695826..28695827 [GRCh38] Chr22:29091814..29091815 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) | single nucleotide variant | Familial cancer of breast [RCV001856811]|Hereditary cancer-predisposing syndrome [RCV002436526]|Inherited breast cancer and ovarian cancer [RCV005416034]|not provided [RCV000484546] | Chr22:28695854 [GRCh38] Chr22:29091842 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) | single nucleotide variant | Familial cancer of breast [RCV001346368]|Hereditary cancer-predisposing syndrome [RCV000564784]|not provided [RCV000484630] | Chr22:28695217 [GRCh38] Chr22:29091205 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) | single nucleotide variant | Familial cancer of breast [RCV000460064]|Hereditary cancer-predisposing syndrome [RCV000580089]|not provided [RCV000985702] | Chr22:28725093 [GRCh38] Chr22:29121081 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp) | single nucleotide variant | Familial cancer of breast [RCV000463864]|Hereditary cancer-predisposing syndrome [RCV001190632] | Chr22:28699874 [GRCh38] Chr22:29095862 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile) | single nucleotide variant | CHEK2-related disorder [RCV004533193]|Familial cancer of breast [RCV000467802]|Hereditary cancer-predisposing syndrome [RCV001010081] | Chr22:28695786 [GRCh38] Chr22:29091774 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.736G>C (p.Val246Leu) | single nucleotide variant | Familial cancer of breast [RCV000471471]|Hereditary cancer-predisposing syndrome [RCV001026337] | Chr22:28711965 [GRCh38] Chr22:29107953 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) | single nucleotide variant | Familial cancer of breast [RCV000475251]|Hereditary breast ovarian cancer syndrome [RCV003483626]|Hereditary cancer-predisposing syndrome [RCV000566309]|Hereditary nonpolyposis colon cancer [RCV005355845]|not provided [RCV001528284]|not specified [RCV003114586] | Chr22:28695800 [GRCh38] Chr22:29091788 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.319+7C>G | single nucleotide variant | Familial cancer of breast [RCV000473854] | Chr22:28734396 [GRCh38] Chr22:29130384 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.444+2T>C | single nucleotide variant | Familial cancer of breast [RCV000543761]|Familial cancer of breast [RCV000763474]|Hereditary cancer-predisposing syndrome [RCV000562639]|not provided [RCV000483398] | Chr22:28725241 [GRCh38] Chr22:29121229 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys) | single nucleotide variant | Familial cancer of breast [RCV001048415]|not provided [RCV000480625] | Chr22:28695736 [GRCh38] Chr22:29091724 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+12_846+16del | deletion | not specified [RCV000480644] | Chr22:28709990..28709994 [GRCh38] Chr22:29105978..29105982 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) | single nucleotide variant | Familial cancer of breast [RCV000547774]|Hereditary cancer-predisposing syndrome [RCV000775780]|not provided [RCV000480755] | Chr22:28734684 [GRCh38] Chr22:29130672 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) | single nucleotide variant | Familial cancer of breast [RCV000460369]|Hereditary cancer-predisposing syndrome [RCV004609388] | Chr22:28711922 [GRCh38] Chr22:29107910 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28703505)_(28703566_?)del | deletion | Familial cancer of breast [RCV000464194] | Chr22:28703505..28703566 [GRCh38] Chr22:29099493..29099554 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1096-1G>A | single nucleotide variant | Familial cancer of breast [RCV000464247]|Hereditary cancer-predisposing syndrome [RCV000565790]|not provided [RCV001782952] | Chr22:28695874 [GRCh38] Chr22:29091862 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=) | single nucleotide variant | Familial cancer of breast [RCV000464282]|Hereditary cancer-predisposing syndrome [RCV000573023] | Chr22:28694065 [GRCh38] Chr22:29090053 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) | duplication | Familial cancer of breast [RCV000464286]|Hereditary cancer-predisposing syndrome [RCV003584611]|not provided [RCV004696916] | Chr22:28695804..28695805 [GRCh38] Chr22:29091792..29091793 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His) | single nucleotide variant | Familial cancer of breast [RCV000467998]|Hereditary cancer-predisposing syndrome [RCV000569146]|not provided [RCV003477981] | Chr22:28689135 [GRCh38] Chr22:29085123 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1261C>T (p.Leu421Phe) | single nucleotide variant | Familial cancer of breast [RCV000468070]|Hereditary cancer-predisposing syndrome [RCV000575686] | Chr22:28695241 [GRCh38] Chr22:29091229 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV003493582]|Familial cancer of breast [RCV000471619]|Hereditary cancer-predisposing syndrome [RCV001011473]|not provided [RCV003328584] | Chr22:28694081 [GRCh38] Chr22:29090069 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.683+9T>C | single nucleotide variant | Familial cancer of breast [RCV000471802]|Hereditary cancer-predisposing syndrome [RCV000583421]|not provided [RCV001613311]|not specified [RCV000781306] | Chr22:28719386 [GRCh38] Chr22:29115374 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1418C>T (p.Ala473Val) | single nucleotide variant | Familial cancer of breast [RCV000475471]|Hereditary cancer-predisposing syndrome [RCV004609386] | Chr22:28694075 [GRCh38] Chr22:29090063 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1302G>A (p.Val434=) | single nucleotide variant | Familial cancer of breast [RCV001504465]|Hereditary cancer-predisposing syndrome [RCV002383890]|not specified [RCV000486859] | Chr22:28695200 [GRCh38] Chr22:29091188 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) | single nucleotide variant | Breast and/or ovarian cancer [RCV003150220]|Familial cancer of breast [RCV000461191]|Hereditary breast ovarian cancer syndrome [RCV003483625]|Hereditary cancer-predisposing syndrome [RCV001022201]|Hereditary nonpolyposis colon cancer [RCV005355843]|not provided [RCV000590326]|not specified [RCV002468941] | Chr22:28725260 [GRCh38] Chr22:29121248 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) | single nucleotide variant | Familial cancer of breast [RCV000543380]|Hereditary cancer-predisposing syndrome [RCV000560968]|not provided [RCV000480813] | Chr22:28695128 [GRCh38] Chr22:29091116 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1260-4T>G | single nucleotide variant | Familial cancer of breast [RCV003766664]|not provided [RCV000485039] | Chr22:28695246 [GRCh38] Chr22:29091234 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027547]|Familial cancer of breast [RCV000556152]|Hereditary cancer-predisposing syndrome [RCV000562793]|Li-Fraumeni syndrome 1 [RCV001174504]|not provided [RCV000485124]|not specified [RCV004689756] | Chr22:28689195 [GRCh38] Chr22:29085183 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His) | single nucleotide variant | Familial cancer of breast [RCV000456925]|Hereditary cancer-predisposing syndrome [RCV000575067]|not provided [RCV001753896] | Chr22:28695240 [GRCh38] Chr22:29091228 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys) | single nucleotide variant | Familial cancer of breast [RCV000460515]|Hereditary cancer-predisposing syndrome [RCV001186457] | Chr22:28695758 [GRCh38] Chr22:29091746 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-6C>T | single nucleotide variant | Familial cancer of breast [RCV000464376]|Hereditary cancer-predisposing syndrome [RCV003584621]|not specified [RCV000602809] | Chr22:28712023 [GRCh38] Chr22:29108011 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.444+6T>C | single nucleotide variant | Familial cancer of breast [RCV000462929]|Hereditary cancer-predisposing syndrome [RCV003584612]|not provided [RCV000482912]|not specified [RCV001174668] | Chr22:28725237 [GRCh38] Chr22:29121225 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027526]|Familial cancer of breast [RCV000466798]|Hereditary cancer-predisposing syndrome [RCV000574842]|Predisposition to cancer [RCV003325201]|not provided [RCV000759772]|not specified [RCV001821281] | Chr22:28734558 [GRCh38] Chr22:29130546 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) | single nucleotide variant | Familial cancer of breast [RCV000467334]|Hereditary cancer-predisposing syndrome [RCV000575429]|not provided [RCV000480457]|not specified [RCV004596197] | Chr22:28696974 [GRCh38] Chr22:29092962 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444+1del | deletion | Familial cancer of breast [RCV001064455]|Hereditary cancer-predisposing syndrome [RCV001188327]|not provided [RCV000484271] | Chr22:28725242 [GRCh38] Chr22:29121230 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.-7+4_-7+13del | deletion | not provided [RCV000481106] | Chr22:28741756..28741765 [GRCh38] Chr22:29137744..29137753 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6-12T>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001176774]|not provided [RCV000481320] | Chr22:28734739 [GRCh38] Chr22:29130727 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027546]|Familial cancer of breast [RCV000528645]|Hereditary cancer-predisposing syndrome [RCV000574986]|not provided [RCV000512871] | Chr22:28699873 [GRCh38] Chr22:29095861 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) | single nucleotide variant | Familial cancer of breast [RCV000663289]|Familial cancer of breast [RCV000765618]|Hereditary cancer-predisposing syndrome [RCV000569568]|not provided [RCV000485499] | Chr22:28699879 [GRCh38] Chr22:29095867 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu) | single nucleotide variant | Familial cancer of breast [RCV000457117]|Hereditary cancer-predisposing syndrome [RCV000572134] | Chr22:28719474 [GRCh38] Chr22:29115462 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr) | single nucleotide variant | Familial cancer of breast [RCV000475949]|Hereditary cancer-predisposing syndrome [RCV002257724] | Chr22:28719435 [GRCh38] Chr22:29115423 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027524]|Familial cancer of breast [RCV000469327]|Hereditary cancer-predisposing syndrome [RCV000579404]|not provided [RCV000481362] | Chr22:28696915 [GRCh38] Chr22:29092903 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met) | single nucleotide variant | Familial cancer of breast [RCV001851201]|Hereditary cancer-predisposing syndrome [RCV002402403]|not provided [RCV000485826] | Chr22:28687917 [GRCh38] Chr22:29083905 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.69C>T (p.Gly23=) | single nucleotide variant | Familial cancer of breast [RCV000457392] | Chr22:28734653 [GRCh38] Chr22:29130641 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) | single nucleotide variant | Familial cancer of breast [RCV000457423]|Hereditary cancer-predisposing syndrome [RCV000570489] | Chr22:28695185 [GRCh38] Chr22:29091173 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1019A>G (p.Glu340Gly) | single nucleotide variant | Familial cancer of breast [RCV000457476]|Hereditary cancer-predisposing syndrome [RCV004022743] | Chr22:28696977 [GRCh38] Chr22:29092965 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=) | single nucleotide variant | Familial cancer of breast [RCV000461120]|Hereditary cancer-predisposing syndrome [RCV002393135]|not specified [RCV004596196] | Chr22:28694032 [GRCh38] Chr22:29090020 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu) | single nucleotide variant | Familial cancer of breast [RCV000476147]|Hereditary cancer-predisposing syndrome [RCV000775770] | Chr22:28699906 [GRCh38] Chr22:29095894 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1420C>G (p.Arg474Gly) | single nucleotide variant | Familial cancer of breast [RCV000476206]|Hereditary cancer-predisposing syndrome [RCV002393136] | Chr22:28694073 [GRCh38] Chr22:29090061 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) | duplication | Familial cancer of breast [RCV000476282]|Hereditary cancer-predisposing syndrome [RCV002365646] | Chr22:28719404..28719405 [GRCh38] Chr22:29115392..29115393 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.329A>G (p.Asn110Ser) | single nucleotide variant | CHEK2-related disorder [RCV004737534]|Familial cancer of breast [RCV000476300]|Hereditary cancer-predisposing syndrome [RCV002323731] | Chr22:28725358 [GRCh38] Chr22:29121346 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1063C>G (p.Leu355Val) | single nucleotide variant | Familial cancer of breast [RCV000476333] | Chr22:28696933 [GRCh38] Chr22:29092921 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.886G>C (p.Asp296His) | single nucleotide variant | Familial cancer of breast [RCV001851253]|Hereditary cancer-predisposing syndrome [RCV004023192]|not provided [RCV000481807] | Chr22:28703527 [GRCh38] Chr22:29099515 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+6T>C | single nucleotide variant | Familial cancer of breast [RCV001036268]|Hereditary cancer-predisposing syndrome [RCV000775792]|not provided [RCV000485929] | Chr22:28694026 [GRCh38] Chr22:29090014 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs) | deletion | Familial cancer of breast [RCV000457707] | Chr22:28711917..28711918 [GRCh38] Chr22:29107905..29107906 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004595507]|Familial cancer of breast [RCV000465132]|Hereditary cancer-predisposing syndrome [RCV000568008]|not provided [RCV001555558] | Chr22:28712013 [GRCh38] Chr22:29108001 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.243G>A (p.Glu81=) | single nucleotide variant | Familial cancer of breast [RCV001446938]|Hereditary cancer-predisposing syndrome [RCV000775748] | Chr22:28734479 [GRCh38] Chr22:29130467 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1461+5G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV003444238]|Familial cancer of breast [RCV000468962]|Hereditary cancer-predisposing syndrome [RCV000561946] | Chr22:28694027 [GRCh38] Chr22:29090015 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys) | single nucleotide variant | Familial cancer of breast [RCV000476422]|Hereditary cancer-predisposing syndrome [RCV004609387]|Hereditary nonpolyposis colon cancer [RCV005355844]|not provided [RCV003105915] | Chr22:28719419 [GRCh38] Chr22:29115407 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) | duplication | Familial cancer of breast [RCV001851132]|Hereditary cancer-predisposing syndrome [RCV000565389]|not provided [RCV000478022] | Chr22:28695852..28695853 [GRCh38] Chr22:29091840..29091841 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.936dup (p.Val313fs) | duplication | Hereditary cancer-predisposing syndrome [RCV005318406]|not provided [RCV000478216] | Chr22:28699909..28699910 [GRCh38] Chr22:29095897..29095898 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly) | single nucleotide variant | Familial cancer of breast [RCV000528303]|Hereditary cancer-predisposing syndrome [RCV002383909]|not provided [RCV000486280] | Chr22:28695211 [GRCh38] Chr22:29091199 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp) | single nucleotide variant | Familial cancer of breast [RCV000690699]|Hereditary cancer-predisposing syndrome [RCV001010526]|not provided [RCV000486281] | Chr22:28695725 [GRCh38] Chr22:29091713 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.631G>T (p.Val211Phe) | single nucleotide variant | Familial cancer of breast [RCV000461608]|Hereditary cancer-predisposing syndrome [RCV002356686] | Chr22:28719447 [GRCh38] Chr22:29115435 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259+1G>T | single nucleotide variant | Familial cancer of breast [RCV000465281] | Chr22:28695709 [GRCh38] Chr22:29091697 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) | microsatellite | Familial cancer of breast [RCV000469025]|Hereditary cancer-predisposing syndrome [RCV000566120]|not provided [RCV000507955] | Chr22:28695829..28695830 [GRCh38] Chr22:29091817..29091818 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29099493)_(29099554_?)dup | duplication | Familial cancer of breast [RCV000469066] | Chr22:28703505..28703566 [GRCh38] Chr22:29099493..29099554 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1542+3A>G | single nucleotide variant | Familial cancer of breast [RCV000472776]|Hereditary cancer-predisposing syndrome [RCV000568643]|not provided [RCV000587215] | Chr22:28689132 [GRCh38] Chr22:29085120 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NC_000022.11:g.(?_28687743)_(28725367_?)del | deletion | Familial cancer of breast [RCV000476678] | Chr22:28687743..28725367 [GRCh38] Chr22:29083731..29121355 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.645A>G (p.Ala215=) | single nucleotide variant | Familial cancer of breast [RCV001481778]|Hereditary cancer-predisposing syndrome [RCV000777675] | Chr22:28719433 [GRCh38] Chr22:29115421 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NC_000022.11:g.(?_28724977)_(28725367_?)del | deletion | Familial cancer of breast [RCV000476770] | Chr22:28724977..28725367 [GRCh38] Chr22:29120965..29121355 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) | deletion | Familial cancer of breast [RCV003335349]|not provided [RCV000485854] | Chr22:28696904..28696907 [GRCh38] Chr22:29092892..29092895 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.908+5G>C | single nucleotide variant | Familial cancer of breast [RCV001343088]|not provided [RCV000485985] | Chr22:28703500 [GRCh38] Chr22:29099488 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1461+5G>T | single nucleotide variant | Familial cancer of breast [RCV000802634]|Hereditary breast ovarian cancer syndrome [RCV004802050]|Hereditary cancer-predisposing syndrome [RCV002395146]|not provided [RCV000482348] | Chr22:28694027 [GRCh38] Chr22:29090015 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.343T>A (p.Phe115Ile) | single nucleotide variant | Familial cancer of breast [RCV000458096]|Hereditary cancer-predisposing syndrome [RCV001020315] | Chr22:28725344 [GRCh38] Chr22:29121332 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260C>G (p.Cys420Trp) | single nucleotide variant | Familial cancer of breast [RCV000465698] | Chr22:28695242 [GRCh38] Chr22:29091230 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp) | single nucleotide variant | Familial cancer of breast [RCV005090946]|Hereditary cancer-predisposing syndrome [RCV002395161]|not provided [RCV000482675] | Chr22:28696963 [GRCh38] Chr22:29092951 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-4T>C | single nucleotide variant | Familial cancer of breast [RCV001088821]|Hereditary cancer-predisposing syndrome [RCV002329155]|not provided [RCV000487020] | Chr22:28725128 [GRCh38] Chr22:29121116 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.995T>C (p.Leu332Pro) | single nucleotide variant | Familial cancer of breast [RCV002526782]|Hereditary cancer-predisposing syndrome [RCV000568415] | Chr22:28699851 [GRCh38] Chr22:29095839 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu) | single nucleotide variant | Familial cancer of breast [RCV000469556]|Hereditary cancer-predisposing syndrome [RCV000572603]|Malignant tumor of breast [RCV001358000] | Chr22:28734447 [GRCh38] Chr22:29130435 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.282del (p.Arg95fs) | deletion | Familial cancer of breast [RCV001041221]|Hereditary cancer-predisposing syndrome [RCV000568231]|not provided [RCV000486640] | Chr22:28734440 [GRCh38] Chr22:29130428 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) | single nucleotide variant | Familial cancer of breast [RCV001349306]|Hereditary cancer-predisposing syndrome [RCV000572689]|not provided [RCV000478285] | Chr22:28710059 [GRCh38] Chr22:29106047 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) | single nucleotide variant | Familial cancer of breast [RCV000537431]|Hereditary cancer-predisposing syndrome [RCV000708695]|not provided [RCV000478318] | Chr22:28694078 [GRCh38] Chr22:29090066 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp) | single nucleotide variant | Familial cancer of breast [RCV000535903]|Hereditary cancer-predisposing syndrome [RCV001026399]|not provided [RCV000478513] | Chr22:28711961 [GRCh38] Chr22:29107949 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu) | single nucleotide variant | Familial cancer of breast [RCV003766655]|Hereditary cancer-predisposing syndrome [RCV003380585]|not provided [RCV000487064] | Chr22:28725064 [GRCh38] Chr22:29121052 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.706C>G (p.Leu236Val) | single nucleotide variant | Familial cancer of breast [RCV000458482]|Hereditary cancer-predisposing syndrome [RCV001025997] | Chr22:28711995 [GRCh38] Chr22:29107983 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1008+8A>G | single nucleotide variant | Familial cancer of breast [RCV001087812]|Hereditary cancer-predisposing syndrome [RCV000584710]|not provided [RCV000588387]|not specified [RCV000600589] | Chr22:28699830 [GRCh38] Chr22:29095818 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1056T>G (p.Asn352Lys) | single nucleotide variant | Familial cancer of breast [RCV000458569]|Hereditary cancer-predisposing syndrome [RCV002402279] | Chr22:28696940 [GRCh38] Chr22:29092928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.280G>A (p.Ala94Thr) | single nucleotide variant | Familial cancer of breast [RCV000462270]|Hereditary cancer-predisposing syndrome [RCV000562512] | Chr22:28734442 [GRCh38] Chr22:29130430 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.555C>T (p.Asn185=) | single nucleotide variant | Familial cancer of breast [RCV001403686] | Chr22:28725014 [GRCh38] Chr22:29121002 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+10G>A | single nucleotide variant | Familial cancer of breast [RCV000469807] | Chr22:28694022 [GRCh38] Chr22:29090010 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28699838)_(28703566_?)del | deletion | Familial cancer of breast [RCV000469867] | Chr22:28699838..28703566 [GRCh38] Chr22:29095826..29099554 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) | single nucleotide variant | Familial cancer of breast [RCV000469899]|Hereditary cancer-predisposing syndrome [RCV000581834]|not provided [RCV000997889] | Chr22:28689174 [GRCh38] Chr22:29085162 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.-8C>T | single nucleotide variant | not provided [RCV000478681] | Chr22:28741770 [GRCh38] Chr22:29137758 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) | single nucleotide variant | Familial cancer of breast [RCV000529273]|Hereditary cancer-predisposing syndrome [RCV000579685]|not provided [RCV000483004]|not specified [RCV004596223] | Chr22:28734714 [GRCh38] Chr22:29130702 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1376-13A>G | single nucleotide variant | Familial cancer of breast [RCV000764371]|Familial cancer of breast [RCV001865432]|Hereditary cancer-predisposing syndrome [RCV000775796]|not provided [RCV000487384] | Chr22:28694130 [GRCh38] Chr22:29090118 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.683+10T>C | single nucleotide variant | Familial cancer of breast [RCV000458706]|Hereditary cancer-predisposing syndrome [RCV000580978] | Chr22:28719385 [GRCh38] Chr22:29115373 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.72C>T (p.Ser24=) | single nucleotide variant | Familial cancer of breast [RCV000458849]|Hereditary cancer-predisposing syndrome [RCV000777680]|Hereditary nonpolyposis colon cancer [RCV005355902]|not specified [RCV004586724] | Chr22:28734650 [GRCh38] Chr22:29130638 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.151C>A (p.Gln51Lys) | single nucleotide variant | Familial cancer of breast [RCV000462478] | Chr22:28734571 [GRCh38] Chr22:29130559 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro) | single nucleotide variant | Breast and/or ovarian cancer [RCV003150221]|Familial cancer of breast [RCV000470117]|Hereditary cancer-predisposing syndrome [RCV000584612] | Chr22:28734642 [GRCh38] Chr22:29130630 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.986A>C (p.Tyr329Ser) | single nucleotide variant | Familial cancer of breast [RCV000473849] | Chr22:28699860 [GRCh38] Chr22:29095848 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) | single nucleotide variant | Familial cancer of breast [RCV001066993]|Hereditary cancer-predisposing syndrome [RCV001016911]|not provided [RCV000480175] | Chr22:28734694 [GRCh38] Chr22:29130682 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.845_846+36dup | duplication | not provided [RCV001704611] | Chr22:28709969..28709970 [GRCh38] Chr22:29105957..29105958 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val) | single nucleotide variant | Familial cancer of breast [RCV002525912]|Hereditary cancer-predisposing syndrome [RCV001012412]|not provided [RCV000478951] | Chr22:28687919 [GRCh38] Chr22:29083907 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+3_592+4del | deletion | not provided [RCV000478991] | Chr22:28724973..28724974 [GRCh38] Chr22:29120961..29120962 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3 | copy number gain | See cases [RCV000510523] | Chr22:28349854..33013062 [GRCh37] Chr22:22q12.1-12.3 |
likely pathogenic |
NM_007194.4(CHEK2):c.225T>G (p.Pro75=) | single nucleotide variant | Familial cancer of breast [RCV001488981]|Hereditary cancer-predisposing syndrome [RCV000776711]|not specified [RCV000503958] | Chr22:28734497 [GRCh38] Chr22:29130485 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414503]|Familial cancer of breast [RCV002524944]|Hereditary cancer [RCV000509464]|Hereditary cancer-predisposing syndrome [RCV002420290]|not provided [RCV000522986] | Chr22:28734643 [GRCh38] Chr22:29130631 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
GRCh37/hg19 22q12.1(chr22:29105415-29115517)x1 | copy number loss | See cases [RCV000510238] | Chr22:29105415..29115517 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
GRCh37/hg19 22q12.1(chr22:29079237-29115517)x3 | copy number gain | See cases [RCV000511407] | Chr22:29079237..29115517 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.762dup (p.Lys255fs) | duplication | Hereditary cancer-predisposing syndrome [RCV000492222] | Chr22:28711938..28711939 [GRCh38] Chr22:29107926..29107927 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1009-2A>G | single nucleotide variant | Familial cancer of breast [RCV000699758]|Hereditary cancer-predisposing syndrome [RCV000492459]|not provided [RCV001543591] | Chr22:28696989 [GRCh38] Chr22:29092977 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) | deletion | Familial cancer of breast [RCV000635920]|Hereditary cancer-predisposing syndrome [RCV000492481] | Chr22:28689176 [GRCh38] Chr22:29085164 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.846+1G>A | single nucleotide variant | Familial cancer of breast [RCV000635951]|Hereditary cancer-predisposing syndrome [RCV000492671]|not provided [RCV000522765] | Chr22:28710005 [GRCh38] Chr22:29105993 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1259+8A>G | single nucleotide variant | Familial cancer of breast [RCV000527244]|Hereditary cancer-predisposing syndrome [RCV000581749]|not provided [RCV001712463]|not specified [RCV000506517] | Chr22:28695702 [GRCh38] Chr22:29091690 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.847-14_847-2delinsGG | indel | Familial cancer of breast [RCV003335439]|Hereditary cancer-predisposing syndrome [RCV001017856]|not provided [RCV004704034] | Chr22:28703568..28703580 [GRCh38] Chr22:29099556..29099568 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) | single nucleotide variant | Colorectal cancer [RCV004771475]|Familial cancer of breast [RCV001068757]|Hereditary cancer-predisposing syndrome [RCV000581294]|not provided [RCV004800436]|not specified [RCV000506957] | Chr22:28734438 [GRCh38] Chr22:29130426 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) | single nucleotide variant | Breast and/or ovarian cancer [RCV003150248]|CHEK2-related cancer predisposition [RCV004796214]|Familial cancer of breast [RCV000541871]|Familial cancer of breast [RCV000763476]|Hereditary breast ovarian cancer syndrome [RCV001375597]|Hereditary cancer-predisposing syndrome [RCV000572280]|not provided [RCV000507030] | Chr22:28725270 [GRCh38] Chr22:29121258 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro) | single nucleotide variant | Familial cancer of breast [RCV000698041]|Hereditary cancer-predisposing syndrome [RCV001181979] | Chr22:28719467 [GRCh38] Chr22:29115455 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1396T>G (p.Leu466Val) | single nucleotide variant | Familial cancer of breast [RCV000698276] | Chr22:28694097 [GRCh38] Chr22:29090085 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val) | single nucleotide variant | Familial cancer of breast [RCV000698965]|Hereditary cancer-predisposing syndrome [RCV001021673] | Chr22:28725286 [GRCh38] Chr22:29121274 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+7A>G | single nucleotide variant | Familial cancer of breast [RCV000542610]|Hereditary cancer-predisposing syndrome [RCV001188174] | Chr22:28709999 [GRCh38] Chr22:29105987 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro) | single nucleotide variant | Familial cancer of breast [RCV000689455]|Hereditary cancer-predisposing syndrome [RCV000568852] | Chr22:28699839 [GRCh38] Chr22:29095827 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 | copy number gain | See cases [RCV000511098] | Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3 |
pathogenic |
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) | single nucleotide variant | Familial cancer of breast [RCV000635927]|Hereditary cancer-predisposing syndrome [RCV000569419] | Chr22:28694058 [GRCh38] Chr22:29090046 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) | deletion | Familial cancer of breast [RCV000812102]|Hereditary cancer-predisposing syndrome [RCV000572548] | Chr22:28694042 [GRCh38] Chr22:29090030 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28687891)_(28689221_?)del | deletion | Familial cancer of breast [RCV000555929] | Chr22:28687891..28689221 [GRCh38] Chr22:29083879..29085209 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) | single nucleotide variant | Familial cancer of breast [RCV001308832]|Hereditary cancer-predisposing syndrome [RCV000575171]|not provided [RCV001560729] | Chr22:28734676 [GRCh38] Chr22:29130664 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) | deletion | CHEK2-related cancer predisposition [RCV001788289]|Familial cancer of breast [RCV003335488]|Hereditary breast ovarian cancer syndrome [RCV003230542]|Hereditary cancer-predisposing syndrome [RCV000575173]|not provided [RCV003228957] | Chr22:28695731 [GRCh38] Chr22:29091719 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.830T>C (p.Leu277Ser) | single nucleotide variant | Familial cancer of breast [RCV001338833]|Hereditary cancer-predisposing syndrome [RCV000575262] | Chr22:28710022 [GRCh38] Chr22:29106010 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.412A>G (p.Thr138Ala) | single nucleotide variant | Familial cancer of breast [RCV000524740]|Hereditary cancer-predisposing syndrome [RCV002330851] | Chr22:28725275 [GRCh38] Chr22:29121263 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.799G>A (p.Ala267Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572948] | Chr22:28710053 [GRCh38] Chr22:29106041 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val) | single nucleotide variant | Familial cancer of breast [RCV000543198]|Hereditary cancer-predisposing syndrome [RCV000575304] | Chr22:28712006 [GRCh38] Chr22:29107994 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1389C>T (p.Val463=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000575340] | Chr22:28694104 [GRCh38] Chr22:29090092 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1054A>C (p.Asn352His) | single nucleotide variant | Familial cancer of breast [RCV000822282]|Hereditary cancer-predisposing syndrome [RCV000575358] | Chr22:28696942 [GRCh38] Chr22:29092930 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1475_1477del (p.Lys492del) | deletion | Hereditary cancer-predisposing syndrome [RCV000575472] | Chr22:28689200..28689202 [GRCh38] Chr22:29085188..29085190 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.583A>G (p.Arg195Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570017] | Chr22:28724986 [GRCh38] Chr22:29120974 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1443A>G (p.Leu481=) | single nucleotide variant | Familial cancer of breast [RCV005091300]|Hereditary cancer-predisposing syndrome [RCV000572972] | Chr22:28694050 [GRCh38] Chr22:29090038 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) | single nucleotide variant | Familial cancer of breast [RCV000525290]|Hereditary cancer-predisposing syndrome [RCV002431573] | Chr22:28734475 [GRCh38] Chr22:29130463 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.818A>C (p.Glu273Ala) | single nucleotide variant | Familial cancer of breast [RCV001057181]|Hereditary cancer-predisposing syndrome [RCV000573029] | Chr22:28710034 [GRCh38] Chr22:29106022 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.*2C>T | single nucleotide variant | Familial cancer of breast [RCV005248290]|Hereditary cancer-predisposing syndrome [RCV000575604] | Chr22:28687895 [GRCh38] Chr22:29083883 [GRCh37] Chr22:22q12.1 |
benign|uncertain significance |
NM_007194.4(CHEK2):c.429C>G (p.His143Gln) | single nucleotide variant | Familial cancer of breast [RCV003500567]|Hereditary breast ovarian cancer syndrome [RCV003483678]|Hereditary cancer-predisposing syndrome [RCV000566903] | Chr22:28725258 [GRCh38] Chr22:29121246 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala) | single nucleotide variant | Familial cancer of breast [RCV001867889]|Hereditary cancer-predisposing syndrome [RCV000570308]|not provided [RCV001284623] | Chr22:28703535 [GRCh38] Chr22:29099523 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln) | single nucleotide variant | Familial cancer of breast [RCV001217899]|Hereditary cancer-predisposing syndrome [RCV000573178] | Chr22:28711986 [GRCh38] Chr22:29107974 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.990G>T (p.Gln330His) | single nucleotide variant | Familial cancer of breast [RCV003607320]|Hereditary cancer-predisposing syndrome [RCV000573188] | Chr22:28699856 [GRCh38] Chr22:29095844 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-5T>G | single nucleotide variant | Familial cancer of breast [RCV001339076]|Hereditary cancer-predisposing syndrome [RCV000575754] | Chr22:28725129 [GRCh38] Chr22:29121117 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1008+2T>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005027662]|Familial cancer of breast [RCV000709597]|Hereditary cancer-predisposing syndrome [RCV000575839] | Chr22:28699836 [GRCh38] Chr22:29095824 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.909-2A>G | single nucleotide variant | Bone osteosarcoma [RCV004732484]|Familial cancer of breast [RCV000576712]|Hereditary cancer-predisposing syndrome [RCV000584150]|not provided [RCV003886415] | Chr22:28699939 [GRCh38] Chr22:29095927 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr) | single nucleotide variant | Familial cancer of breast [RCV001049982]|Hereditary cancer-predisposing syndrome [RCV000579601]|not provided [RCV002289851] | Chr22:28703556 [GRCh38] Chr22:29099544 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570646]|not provided [RCV001354759] | Chr22:28711936 [GRCh38] Chr22:29107924 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.129C>A (p.Thr43=) | single nucleotide variant | Familial cancer of breast [RCV000529108]|Hereditary cancer-predisposing syndrome [RCV001010838] | Chr22:28734593 [GRCh38] Chr22:29130581 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+1G>A | single nucleotide variant | Breast cancer, susceptibility to [RCV001258068]|CHEK2-related cancer predisposition [RCV005398885]|CHEK2-related disorder [RCV004737837]|Familial cancer of breast [RCV000635773]|Hereditary cancer-predisposing syndrome [RCV000573370] | Chr22:28734402 [GRCh38] Chr22:29130390 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) | deletion | Familial cancer of breast [RCV000529636]|Hereditary cancer-predisposing syndrome [RCV001012055] | Chr22:28687982 [GRCh38] Chr22:29083970 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.413C>T (p.Thr138Ile) | single nucleotide variant | Familial cancer of breast [RCV001859987]|Hereditary cancer-predisposing syndrome [RCV000576067] | Chr22:28725274 [GRCh38] Chr22:29121262 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs) | insertion | Hereditary cancer-predisposing syndrome [RCV000576069] | Chr22:28712007..28712008 [GRCh38] Chr22:29107995..29107996 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.-3G>A | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357639]|Hereditary cancer-predisposing syndrome [RCV000576083] | Chr22:28734724 [GRCh38] Chr22:29130712 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) | single nucleotide variant | CHEK2-related disorder [RCV004530602]|Familial cancer of breast [RCV000686285]|Hereditary cancer-predisposing syndrome [RCV000576138] | Chr22:28724977 [GRCh38] Chr22:29120965 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val) | single nucleotide variant | Familial cancer of breast [RCV001348839]|Hereditary cancer-predisposing syndrome [RCV000579659] | Chr22:28696971 [GRCh38] Chr22:29092959 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn) | single nucleotide variant | Familial cancer of breast [RCV001240845]|Hereditary cancer-predisposing syndrome [RCV000579833] | Chr22:28695759 [GRCh38] Chr22:29091747 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.150C>T (p.Ser50=) | single nucleotide variant | Familial cancer of breast [RCV001062346]|Hereditary cancer-predisposing syndrome [RCV000570717]|not provided [RCV000842677] | Chr22:28734572 [GRCh38] Chr22:29130560 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.433del (p.Arg145fs) | deletion | Familial cancer of breast [RCV000530353] | Chr22:28725254 [GRCh38] Chr22:29121242 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly) | single nucleotide variant | Familial cancer of breast [RCV000530682]|Hereditary cancer-predisposing syndrome [RCV000777274] | Chr22:28734696 [GRCh38] Chr22:29130684 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.275C>A (p.Pro92His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000573515]|not provided [RCV004767389] | Chr22:28734447 [GRCh38] Chr22:29130435 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444+10_444+13del | deletion | Familial cancer of breast [RCV000531296] | Chr22:28725230..28725233 [GRCh38] Chr22:29121218..29121221 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) | single nucleotide variant | Familial cancer of breast [RCV000635731]|Familial cancer of breast [RCV000765624]|Hereditary cancer-predisposing syndrome [RCV000570860]|not provided [RCV001800767] | Chr22:28725251 [GRCh38] Chr22:29121239 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+1G>C | single nucleotide variant | Familial cancer of breast [RCV000532543] | Chr22:28734402 [GRCh38] Chr22:29130390 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.870del (p.Phe292fs) | deletion | Familial cancer of breast [RCV000532620]|Hereditary cancer-predisposing syndrome [RCV001805158] | Chr22:28703543 [GRCh38] Chr22:29099531 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.655G>A (p.Glu219Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003293690] | Chr22:28719423 [GRCh38] Chr22:29115411 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.508G>C (p.Val170Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003293697] | Chr22:28725061 [GRCh38] Chr22:29121049 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1086T>G (p.Cys362Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571096] | Chr22:28696910 [GRCh38] Chr22:29092898 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1416G>A (p.Lys472=) | single nucleotide variant | Familial cancer of breast [RCV005248217]|Hereditary cancer-predisposing syndrome [RCV000573976] | Chr22:28694077 [GRCh38] Chr22:29090065 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.699G>C (p.Glu233Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000571514] | Chr22:28712002 [GRCh38] Chr22:29107990 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.878A>T (p.Asp293Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000574029] | Chr22:28703535 [GRCh38] Chr22:29099523 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792+4A>G | single nucleotide variant | Familial cancer of breast [RCV000536851] | Chr22:28711905 [GRCh38] Chr22:29107893 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) | deletion | Familial cancer of breast [RCV003335489]|Hereditary cancer-predisposing syndrome [RCV000571640] | Chr22:28695179 [GRCh38] Chr22:29091167 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1222G>A (p.Val408Met) | single nucleotide variant | Familial cancer of breast [RCV002528128]|Hereditary cancer-predisposing syndrome [RCV000571704] | Chr22:28695747 [GRCh38] Chr22:29091735 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.277T>A (p.Trp93Arg) | single nucleotide variant | Familial cancer of breast [RCV000538696] | Chr22:28734445 [GRCh38] Chr22:29130433 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.46_72del (p.Ser16_Ser24del) | deletion | Familial cancer of breast [RCV000635624] | Chr22:28734650..28734676 [GRCh38] Chr22:29130638..29130664 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) | duplication | Familial cancer of breast [RCV000635634]|Hereditary cancer-predisposing syndrome [RCV004948497] | Chr22:28699866..28699867 [GRCh38] Chr22:29095854..29095855 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.846+1G>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005401542]|Familial cancer of breast [RCV000635635]|Hereditary cancer-predisposing syndrome [RCV002448967] | Chr22:28710005 [GRCh38] Chr22:29105993 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.745A>C (p.Lys249Gln) | single nucleotide variant | Familial cancer of breast [RCV000635654] | Chr22:28711956 [GRCh38] Chr22:29107944 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs) | deletion | Familial cancer of breast [RCV000635662] | Chr22:28694049..28694050 [GRCh38] Chr22:29090037..29090038 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1009-5T>A | single nucleotide variant | Familial cancer of breast [RCV000635667] | Chr22:28696992 [GRCh38] Chr22:29092980 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp) | single nucleotide variant | Familial cancer of breast [RCV000635671]|Hereditary cancer-predisposing syndrome [RCV001526237] | Chr22:28695150 [GRCh38] Chr22:29091138 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) | deletion | Familial cancer of breast [RCV000635711] | Chr22:28687985 [GRCh38] Chr22:29083973 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1016A>T (p.His339Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357837]|Familial cancer of breast [RCV000635717] | Chr22:28696980 [GRCh38] Chr22:29092968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.60G>T (p.Gln20His) | single nucleotide variant | Familial cancer of breast [RCV000635741]|Hereditary cancer-predisposing syndrome [RCV001024901] | Chr22:28734662 [GRCh38] Chr22:29130650 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.545C>A (p.Pro182His) | single nucleotide variant | Familial cancer of breast [RCV000635752] | Chr22:28725024 [GRCh38] Chr22:29121012 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-3del | deletion | Familial cancer of breast [RCV000635791] | Chr22:28696990 [GRCh38] Chr22:29092978 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.953G>C (p.Arg318Pro) | single nucleotide variant | Familial cancer of breast [RCV000635808]|Hereditary cancer-predisposing syndrome [RCV002377378] | Chr22:28699893 [GRCh38] Chr22:29095881 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083879)_(29130715_?)dup | duplication | Familial cancer of breast [RCV000559544] | Chr22:29083879..29130715 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.176C>T (p.Thr59Ile) | single nucleotide variant | Familial cancer of breast [RCV000817916]|Hereditary cancer-predisposing syndrome [RCV000574428]|Li-Fraumeni syndrome [RCV005357684] | Chr22:28734546 [GRCh38] Chr22:29130534 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-36AG[1] | microsatellite | not specified [RCV000606410] | Chr22:28741795..28741796 [GRCh38] Chr22:29137783..29137784 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1008+15C>G | single nucleotide variant | Familial cancer of breast [RCV002063910]|Hereditary cancer-predisposing syndrome [RCV000772546]|not specified [RCV000606524] | Chr22:28699823 [GRCh38] Chr22:29095811 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1471A>G (p.Met491Val) | single nucleotide variant | Familial cancer of breast [RCV000635890]|Hereditary cancer-predisposing syndrome [RCV004948498] | Chr22:28689206 [GRCh38] Chr22:29085194 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr) | single nucleotide variant | Familial cancer of breast [RCV001853256]|Hereditary cancer-predisposing syndrome [RCV000574562]|Triple-negative breast cancer [RCV000202371] | Chr22:28696911 [GRCh38] Chr22:29092899 [GRCh37] Chr22:22q12.1 |
association|uncertain significance |
NM_007194.4(CHEK2):c.592+13T>C | single nucleotide variant | Familial cancer of breast [RCV002062482]|not specified [RCV000421636] | Chr22:28724964 [GRCh38] Chr22:29120952 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser) | single nucleotide variant | CHEK2-related disorder [RCV004737552]|Familial cancer of breast [RCV001049856]|Hereditary cancer-predisposing syndrome [RCV000562708]|not provided [RCV000479721] | Chr22:28712016 [GRCh38] Chr22:29108004 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.284G>T (p.Arg95Leu) | single nucleotide variant | Familial cancer of breast [RCV000635601]|Hereditary cancer-predisposing syndrome [RCV004025465] | Chr22:28734438 [GRCh38] Chr22:29130426 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259+2T>C | single nucleotide variant | Familial cancer of breast [RCV000635820] | Chr22:28695708 [GRCh38] Chr22:29091696 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.608A>C (p.Asp203Ala) | single nucleotide variant | Familial cancer of breast [RCV000635850] | Chr22:28719470 [GRCh38] Chr22:29115458 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) | duplication | Familial cancer of breast [RCV000635853] | Chr22:28687982..28687983 [GRCh38] Chr22:29083970..29083971 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.694G>A (p.Gly232Arg) | single nucleotide variant | Familial cancer of breast [RCV000635858]|Hereditary cancer-predisposing syndrome [RCV004609462] | Chr22:28712007 [GRCh38] Chr22:29107995 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His) | single nucleotide variant | Familial cancer of breast [RCV000635860]|Hereditary cancer-predisposing syndrome [RCV001010424]|not provided [RCV001766359] | Chr22:28695744 [GRCh38] Chr22:29091732 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) | deletion | Familial cancer of breast [RCV000635875] | Chr22:28696933 [GRCh38] Chr22:29092921 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) | single nucleotide variant | Colorectal cancer [RCV001543607]|Familial cancer of breast [RCV000635876]|Hereditary cancer-predisposing syndrome [RCV001027035] | Chr22:28734643 [GRCh38] Chr22:29130631 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.908+4del | deletion | Familial cancer of breast [RCV000635877] | Chr22:28703501 [GRCh38] Chr22:29099489 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-1G>A | single nucleotide variant | Familial cancer of breast [RCV000635904]|Hereditary cancer-predisposing syndrome [RCV005318466] | Chr22:28696988 [GRCh38] Chr22:29092976 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.802C>G (p.Leu268Val) | single nucleotide variant | Familial cancer of breast [RCV000635906]|Hereditary cancer-predisposing syndrome [RCV002406363]|not provided [RCV004588063] | Chr22:28710050 [GRCh38] Chr22:29106038 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096-1G>T | single nucleotide variant | Familial cancer of breast [RCV000635919]|Gastric cancer [RCV003162844] | Chr22:28695874 [GRCh38] Chr22:29091862 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.406T>G (p.Tyr136Asp) | single nucleotide variant | Familial cancer of breast [RCV000635935] | Chr22:28725281 [GRCh38] Chr22:29121269 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg) | single nucleotide variant | Familial cancer of breast [RCV000635940]|Hereditary cancer-predisposing syndrome [RCV002257882] | Chr22:28695171 [GRCh38] Chr22:29091159 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.448del (p.Val150fs) | deletion | Familial cancer of breast [RCV000635943] | Chr22:28725121 [GRCh38] Chr22:29121109 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.75T>C (p.Val25=) | single nucleotide variant | Familial cancer of breast [RCV000635961]|Hereditary cancer-predisposing syndrome [RCV001026612] | Chr22:28734647 [GRCh38] Chr22:29130635 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.904G>C (p.Glu302Gln) | single nucleotide variant | Familial cancer of breast [RCV001226541]|Hereditary cancer-predisposing syndrome [RCV000571936] | Chr22:28703509 [GRCh38] Chr22:29099497 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.163T>G (p.Ser55Ala) | single nucleotide variant | Familial cancer of breast [RCV000541373]|Hereditary cancer-predisposing syndrome [RCV002404411] | Chr22:28734559 [GRCh38] Chr22:29130547 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=) | single nucleotide variant | Familial cancer of breast [RCV000636013]|Hereditary cancer-predisposing syndrome [RCV001017502] | Chr22:28695802 [GRCh38] Chr22:29091790 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NC_000022.10:g.(?_29105988)_(29108011_?)dup | duplication | Familial cancer of breast [RCV000636054] | Chr22:28710000..28712023 [GRCh38] Chr22:29105988..29108011 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28699832)_(28699943_?)del | deletion | Familial cancer of breast [RCV000636055] | Chr22:28699832..28699943 [GRCh38] Chr22:29095820..29095931 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28687891)_(28734727_?)del | deletion | Familial cancer of breast [RCV000636056] | Chr22:28687891..28734727 [GRCh38] Chr22:29083879..29130715 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.571C>G (p.Leu191Val) | single nucleotide variant | Familial cancer of breast [RCV001064430]|Hereditary cancer-predisposing syndrome [RCV000574623] | Chr22:28724998 [GRCh38] Chr22:29120986 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr) | single nucleotide variant | Familial cancer of breast [RCV001062214]|Hereditary cancer-predisposing syndrome [RCV000574737]|not provided [RCV001770502] | Chr22:28734430 [GRCh38] Chr22:29130418 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) | duplication | Familial cancer of breast [RCV003335490]|Hereditary cancer-predisposing syndrome [RCV000569863] | Chr22:28695771..28695772 [GRCh38] Chr22:29091759..29091760 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) | single nucleotide variant | Familial cancer of breast [RCV000698621]|Hereditary cancer-predisposing syndrome [RCV000570223]|Hereditary nonpolyposis colon cancer [RCV005357711] | Chr22:28694066 [GRCh38] Chr22:29090054 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.806A>C (p.Asn269Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000570328] | Chr22:28710046 [GRCh38] Chr22:29106034 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.136_137delinsTG (p.Met46Trp) | indel | Hereditary cancer-predisposing syndrome [RCV000570563] | Chr22:28734585..28734586 [GRCh38] Chr22:29130573..29130574 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) | indel | Familial cancer of breast [RCV003470813]|Hereditary breast ovarian cancer syndrome [RCV003230544]|Hereditary cancer-predisposing syndrome [RCV000561232] | Chr22:28695723..28695731 [GRCh38] Chr22:29091711..29091719 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1607del (p.Pro536fs) | deletion | Familial cancer of breast [RCV000548349]|Gastric cancer [RCV003159785] | Chr22:28687922 [GRCh38] Chr22:29083910 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.879del (p.Asp293fs) | deletion | Familial cancer of breast [RCV003335492]|Hereditary cancer-predisposing syndrome [RCV000565506] | Chr22:28703534 [GRCh38] Chr22:29099522 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.313A>C (p.Asn105His) | single nucleotide variant | Familial cancer of breast [RCV000697949]|Hereditary cancer-predisposing syndrome [RCV000566204]|not provided [RCV002281112] | Chr22:28734409 [GRCh38] Chr22:29130397 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) | duplication | Familial cancer of breast [RCV000576866] | Chr22:28689154..28689155 [GRCh38] Chr22:29085142..29085143 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.792+18G>C | single nucleotide variant | not specified [RCV000607730] | Chr22:28711891 [GRCh38] Chr22:29107879 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+18C>T | single nucleotide variant | Familial cancer of breast [RCV002063943]|not specified [RCV000602425] | Chr22:28694014 [GRCh38] Chr22:29090002 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319G>C (p.Glu107Gln) | single nucleotide variant | Familial cancer of breast [RCV003500828]|Hereditary cancer-predisposing syndrome [RCV003293688] | Chr22:28734403 [GRCh38] Chr22:29130391 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1216C>G (p.Arg406Gly) | single nucleotide variant | Familial cancer of breast [RCV005102790]|Hereditary cancer-predisposing syndrome [RCV003293694] | Chr22:28695753 [GRCh38] Chr22:29091741 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr) | single nucleotide variant | Familial cancer of breast [RCV000804063]|Hereditary cancer-predisposing syndrome [RCV001010552]|not provided [RCV000523357] | Chr22:28695722 [GRCh38] Chr22:29091710 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr) | single nucleotide variant | Familial cancer of breast [RCV000695165]|Hereditary cancer-predisposing syndrome [RCV000569424] | Chr22:28725364 [GRCh38] Chr22:29121352 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) | single nucleotide variant | Familial cancer of breast [RCV000536951] | Chr22:28695729 [GRCh38] Chr22:29091717 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28710000)_(28712023_?)del | deletion | Familial cancer of breast [RCV000537081] | Chr22:28710000..28712023 [GRCh38] Chr22:29105988..29108011 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp) | single nucleotide variant | Familial cancer of breast [RCV001037457]|Hereditary cancer-predisposing syndrome [RCV000574277] | Chr22:28719421 [GRCh38] Chr22:29115409 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.856A>C (p.Ile286Leu) | single nucleotide variant | Familial cancer of breast [RCV000538972] | Chr22:28703557 [GRCh38] Chr22:29099545 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.409C>G (p.Arg137Gly) | single nucleotide variant | Familial cancer of breast [RCV000806371]|Hereditary cancer-predisposing syndrome [RCV000574297] | Chr22:28725278 [GRCh38] Chr22:29121266 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.18T>C (p.Asp6=) | single nucleotide variant | Familial cancer of breast [RCV003105985]|Hereditary cancer-predisposing syndrome [RCV000772691]|not specified [RCV000615349] | Chr22:28734704 [GRCh38] Chr22:29130692 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.709G>A (p.Ala237Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572015] | Chr22:28711992 [GRCh38] Chr22:29107980 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.241G>A (p.Glu81Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000572093] | Chr22:28734481 [GRCh38] Chr22:29130469 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser) | single nucleotide variant | Familial cancer of breast [RCV000540027]|Hereditary cancer-predisposing syndrome [RCV002395341] | Chr22:28689169 [GRCh38] Chr22:29085157 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=) | single nucleotide variant | Familial cancer of breast [RCV000540382]|Hereditary cancer-predisposing syndrome [RCV002350220] | Chr22:28695817 [GRCh38] Chr22:29091805 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) | single nucleotide variant | Familial cancer of breast [RCV000540634]|Hereditary cancer-predisposing syndrome [RCV002384084] | Chr22:28695205 [GRCh38] Chr22:29091193 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.3G>T (p.Met1Ile) | single nucleotide variant | Familial cancer of breast [RCV000540790] | Chr22:28734719 [GRCh38] Chr22:29130707 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.232del (p.Gln78fs) | deletion | Hereditary cancer-predisposing syndrome [RCV000572266] | Chr22:28734490 [GRCh38] Chr22:29130478 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) | duplication | Familial cancer of breast [RCV001858099]|Hereditary cancer-predisposing syndrome [RCV000574542] | Chr22:28734452..28734453 [GRCh38] Chr22:29130440..29130441 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=) | single nucleotide variant | Familial cancer of breast [RCV001444264]|not specified [RCV000600506] | Chr22:28695859 [GRCh38] Chr22:29091847 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His) | single nucleotide variant | Familial cancer of breast [RCV000796300]|Hereditary breast ovarian cancer syndrome [RCV004689796]|Hereditary cancer-predisposing syndrome [RCV000568786] | Chr22:28725272 [GRCh38] Chr22:29121260 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.320-7A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357802]|Familial cancer of breast [RCV000635970]|Hereditary cancer-predisposing syndrome [RCV001525244]|not specified [RCV000616212] | Chr22:28725374 [GRCh38] Chr22:29121362 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys) | single nucleotide variant | Familial cancer of breast [RCV001224645]|Hereditary cancer-predisposing syndrome [RCV000572342] | Chr22:28687953 [GRCh38] Chr22:29083941 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.673A>C (p.Thr225Pro) | single nucleotide variant | Familial cancer of breast [RCV000635636]|Hereditary cancer-predisposing syndrome [RCV000569539]|not provided [RCV004794411] | Chr22:28719405 [GRCh38] Chr22:29115393 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28689129)_(28696993_?)del | deletion | Familial cancer of breast [RCV000533464] | Chr22:28689129..28696993 [GRCh38] Chr22:29085117..29092981 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly) | single nucleotide variant | Familial cancer of breast [RCV001062050]|Hereditary cancer-predisposing syndrome [RCV000569720] | Chr22:28703532 [GRCh38] Chr22:29099520 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.133del (p.Thr45fs) | deletion | Familial cancer of breast [RCV001386761]|Hereditary cancer-predisposing syndrome [RCV000572454] | Chr22:28734589 [GRCh38] Chr22:29130577 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1561C>A (p.Arg521=) | single nucleotide variant | Familial cancer of breast [RCV005248218]|Hereditary cancer-predisposing syndrome [RCV000572495] | Chr22:28687968 [GRCh38] Chr22:29083956 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-11A>G | single nucleotide variant | not specified [RCV000602361] | Chr22:28741773 [GRCh38] Chr22:29137761 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+16T>G | single nucleotide variant | Familial cancer of breast [RCV002531176]|Hereditary cancer-predisposing syndrome [RCV001191387]|not specified [RCV000613331] | Chr22:28703489 [GRCh38] Chr22:29099477 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser) | single nucleotide variant | Familial cancer of breast [RCV003117339]|Hereditary cancer-predisposing syndrome [RCV000569750] | Chr22:28719476 [GRCh38] Chr22:29115464 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) | single nucleotide variant | Familial cancer of breast [RCV000635657]|Hereditary cancer-predisposing syndrome [RCV000569874]|not specified [RCV005231089] | Chr22:28694111 [GRCh38] Chr22:29090099 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.329A>C (p.Asn110Thr) | single nucleotide variant | Familial cancer of breast [RCV001309875]|Hereditary cancer-predisposing syndrome [RCV000572742] | Chr22:28725358 [GRCh38] Chr22:29121346 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.570A>T (p.Ala190=) | single nucleotide variant | Familial cancer of breast [RCV003767103]|Hereditary cancer-predisposing syndrome [RCV000569977] | Chr22:28724999 [GRCh38] Chr22:29120987 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.852C>T (p.Cys284=) | single nucleotide variant | Familial cancer of breast [RCV000867903]|Hereditary cancer-predisposing syndrome [RCV000570145] | Chr22:28703561 [GRCh38] Chr22:29099549 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=) | single nucleotide variant | Familial cancer of breast [RCV005091735]|Hereditary cancer-predisposing syndrome [RCV005318455]|not specified [RCV000616732] | Chr22:28695760 [GRCh38] Chr22:29091748 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) | single nucleotide variant | Familial cancer of breast [RCV001858193]|Hereditary cancer-predisposing syndrome [RCV000570312] | Chr22:28719449 [GRCh38] Chr22:29115437 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1060_1071del (p.Leu354_Ser357del) | deletion | Hereditary cancer-predisposing syndrome [RCV000573115] | Chr22:28696925..28696936 [GRCh38] Chr22:29092913..29092924 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-18T>C | single nucleotide variant | Familial cancer of breast [RCV002531611]|not specified [RCV000610866] | Chr22:28689233 [GRCh38] Chr22:29085221 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1462-20T>G | single nucleotide variant | not specified [RCV000610918] | Chr22:28689235 [GRCh38] Chr22:29085223 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.600del (p.Phe202fs) | deletion | Familial cancer of breast [RCV000527688] | Chr22:28719478 [GRCh38] Chr22:29115466 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs) | deletion | Familial cancer of breast [RCV000527932] | Chr22:28734603..28734613 [GRCh38] Chr22:29130591..29130601 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys) | single nucleotide variant | Familial cancer of breast [RCV000528472] | Chr22:28725292 [GRCh38] Chr22:29121280 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1614G>A (p.Val538=) | single nucleotide variant | Familial cancer of breast [RCV001467532]|Hereditary cancer-predisposing syndrome [RCV002404410] | Chr22:28687915 [GRCh38] Chr22:29083903 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.36T>C (p.Ser12=) | single nucleotide variant | Familial cancer of breast [RCV001451271]|Hereditary cancer-predisposing syndrome [RCV000573328] | Chr22:28734686 [GRCh38] Chr22:29130674 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.909-19C>T | single nucleotide variant | Familial cancer of breast [RCV002062192]|not specified [RCV000614126] | Chr22:28699956 [GRCh38] Chr22:29095944 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.294C>T (p.Ala98=) | single nucleotide variant | Familial cancer of breast [RCV000531728] | Chr22:28734428 [GRCh38] Chr22:29130416 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=) | single nucleotide variant | Familial cancer of breast [RCV000532296]|Hereditary cancer-predisposing syndrome [RCV001189372] | Chr22:28689171 [GRCh38] Chr22:29085159 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1259+14T>C | single nucleotide variant | Familial cancer of breast [RCV003767768]|Hereditary cancer-predisposing syndrome [RCV000772688]|not specified [RCV000611724] | Chr22:28695696 [GRCh38] Chr22:29091684 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-4C>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003293695] | Chr22:28734725 [GRCh38] Chr22:29130713 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29130385)_(29130715_?)del | deletion | Familial cancer of breast [RCV000536147] | Chr22:29130385..29130715 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=) | single nucleotide variant | Familial cancer of breast [RCV000635994]|Hereditary cancer-predisposing syndrome [RCV000571368] | Chr22:28725348 [GRCh38] Chr22:29121336 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu) | single nucleotide variant | Familial cancer of breast [RCV000703439]|Hereditary cancer-predisposing syndrome [RCV000571377]|not provided [RCV005004250] | Chr22:28695228 [GRCh38] Chr22:29091216 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1046A>G (p.Lys349Arg) | single nucleotide variant | Familial cancer of breast [RCV000533975]|Hereditary cancer-predisposing syndrome [RCV005318421] | Chr22:28696950 [GRCh38] Chr22:29092938 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr) | single nucleotide variant | Familial cancer of breast [RCV000535275]|Hereditary cancer-predisposing syndrome [RCV001185979] | Chr22:28712009 [GRCh38] Chr22:29107997 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.939G>A (p.Val313=) | single nucleotide variant | Familial cancer of breast [RCV000535340]|Hereditary cancer-predisposing syndrome [RCV003302805] | Chr22:28699907 [GRCh38] Chr22:29095895 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.793-9_793-8del | deletion | Familial cancer of breast [RCV000636011]|not provided [RCV003318604] | Chr22:28710067..28710068 [GRCh38] Chr22:29106055..29106056 [GRCh37] Chr22:22q12.1 |
likely benign |
GRCh37/hg19 22q12.1(chr22:29056236-29122997)x3 | copy number gain | See cases [RCV000512270] | Chr22:29056236..29122997 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+10A>T | single nucleotide variant | not specified [RCV000602175] | Chr22:28741759 [GRCh38] Chr22:29137747 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.444+18A>G | single nucleotide variant | Familial cancer of breast [RCV002062812]|not specified [RCV000604769] | Chr22:28725225 [GRCh38] Chr22:29121213 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.491G>C (p.Ser164Thr) | single nucleotide variant | Familial cancer of breast [RCV000635612] | Chr22:28725078 [GRCh38] Chr22:29121066 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.110G>T (p.Gly37Val) | single nucleotide variant | Familial cancer of breast [RCV000635617] | Chr22:28734612 [GRCh38] Chr22:29130600 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1010A>G (p.Tyr337Cys) | single nucleotide variant | Familial cancer of breast [RCV000635638] | Chr22:28696986 [GRCh38] Chr22:29092974 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.484G>T (p.Asp162Tyr) | single nucleotide variant | Familial cancer of breast [RCV000635643]|Hereditary cancer-predisposing syndrome [RCV002331137] | Chr22:28725085 [GRCh38] Chr22:29121073 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val) | single nucleotide variant | Familial cancer of breast [RCV000635653]|Hereditary cancer-predisposing syndrome [RCV002386015]|not provided [RCV004691981] | Chr22:28696969 [GRCh38] Chr22:29092957 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.529A>G (p.Lys177Glu) | single nucleotide variant | Familial cancer of breast [RCV000635684] | Chr22:28725040 [GRCh38] Chr22:29121028 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.853A>T (p.Ile285Phe) | single nucleotide variant | Familial cancer of breast [RCV000635696] | Chr22:28703560 [GRCh38] Chr22:29099548 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.919G>A (p.Gly307Arg) | single nucleotide variant | Familial cancer of breast [RCV000635700]|Hereditary cancer-predisposing syndrome [RCV001018993] | Chr22:28699927 [GRCh38] Chr22:29095915 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.721A>G (p.Lys241Glu) | single nucleotide variant | Familial cancer of breast [RCV000635707] | Chr22:28711980 [GRCh38] Chr22:29107968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1579G>T (p.Ala527Ser) | single nucleotide variant | Familial cancer of breast [RCV000635725]|Hereditary cancer-predisposing syndrome [RCV002404771] | Chr22:28687950 [GRCh38] Chr22:29083938 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.706del (p.Leu236fs) | deletion | Familial cancer of breast [RCV000635732] | Chr22:28711995 [GRCh38] Chr22:29107983 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) | single nucleotide variant | Familial cancer of breast [RCV000635733]|Hereditary cancer-predisposing syndrome [RCV002331139] | Chr22:28725101 [GRCh38] Chr22:29121089 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001814204]|Familial cancer of breast [RCV000635735]|Hereditary cancer-predisposing syndrome [RCV000771629]|not provided [RCV003483696] | Chr22:28725348 [GRCh38] Chr22:29121336 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1114T>C (p.Ser372Pro) | single nucleotide variant | Familial cancer of breast [RCV000635738]|Hereditary cancer-predisposing syndrome [RCV002438682] | Chr22:28695855 [GRCh38] Chr22:29091843 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.16G>C (p.Asp6His) | single nucleotide variant | Familial cancer of breast [RCV000635765]|Hereditary cancer-predisposing syndrome [RCV002404772] | Chr22:28734706 [GRCh38] Chr22:29130694 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) | single nucleotide variant | Familial cancer of breast [RCV000635766]|Hereditary cancer-predisposing syndrome [RCV002509482] | Chr22:28694101 [GRCh38] Chr22:29090089 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1409A>G (p.Asp470Gly) | single nucleotide variant | Familial cancer of breast [RCV000635775]|Hereditary cancer-predisposing syndrome [RCV002388039] | Chr22:28694084 [GRCh38] Chr22:29090072 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+6T>C | single nucleotide variant | Familial cancer of breast [RCV000635776] | Chr22:28710000 [GRCh38] Chr22:29105988 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-9_1546del | deletion | Familial cancer of breast [RCV000635778] | Chr22:28687983..28687995 [GRCh38] Chr22:29083971..29083983 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1543-12_1543-3del | deletion | not specified [RCV000600052] | Chr22:28687989..28687998 [GRCh38] Chr22:29083977..29083986 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+9del | deletion | Familial cancer of breast [RCV003607336]|not specified [RCV000599745] | Chr22:28709997 [GRCh38] Chr22:29105985 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1114T>G (p.Ser372Ala) | single nucleotide variant | Familial cancer of breast [RCV001858097]|Hereditary cancer-predisposing syndrome [RCV000561007] | Chr22:28695855 [GRCh38] Chr22:29091843 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1153T>G (p.Cys385Gly) | single nucleotide variant | Familial cancer of breast [RCV000635844] | Chr22:28695816 [GRCh38] Chr22:29091804 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) | deletion | Breast neoplasm [RCV000677874] | Chr22:28695841 [GRCh38] Chr22:29091829 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.898G>A (p.Val300Ile) | single nucleotide variant | Familial cancer of breast [RCV000635793]|Hereditary cancer-predisposing syndrome [RCV004025466] | Chr22:28703515 [GRCh38] Chr22:29099503 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu) | single nucleotide variant | Familial cancer of breast [RCV000635827]|Hereditary cancer-predisposing syndrome [RCV002388040]|not specified [RCV005231208] | Chr22:28689206 [GRCh38] Chr22:29085194 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val) | single nucleotide variant | Familial cancer of breast [RCV000635828]|Hereditary cancer-predisposing syndrome [RCV002386016] | Chr22:28699852 [GRCh38] Chr22:29095840 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+2dup | duplication | Familial cancer of breast [RCV000635834]|Hereditary cancer-predisposing syndrome [RCV002448969] | Chr22:28710003..28710004 [GRCh38] Chr22:29105991..29105992 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-3T>G | single nucleotide variant | Familial cancer of breast [RCV000635885] | Chr22:28703569 [GRCh38] Chr22:29099557 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile) | single nucleotide variant | Familial cancer of breast [RCV000635892]|not provided [RCV001756055] | Chr22:28699934 [GRCh38] Chr22:29095922 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile) | single nucleotide variant | Familial cancer of breast [RCV000635894]|Hereditary cancer-predisposing syndrome [RCV001024944]|not specified [RCV001816577] | Chr22:28719464 [GRCh38] Chr22:29115452 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-5C>G | single nucleotide variant | Familial cancer of breast [RCV000635914]|not provided [RCV001756056]|not specified [RCV002248837] | Chr22:28703571 [GRCh38] Chr22:29099559 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.740C>T (p.Ala247Val) | single nucleotide variant | Familial cancer of breast [RCV000635922]|Hereditary cancer-predisposing syndrome [RCV002386018] | Chr22:28711961 [GRCh38] Chr22:29107949 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.292del (p.Ala98fs) | deletion | Familial cancer of breast [RCV000635948]|Hereditary cancer-predisposing syndrome [RCV002438685] | Chr22:28734430 [GRCh38] Chr22:29130418 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.31C>G (p.Gln11Glu) | single nucleotide variant | Familial cancer of breast [RCV000635955] | Chr22:28734691 [GRCh38] Chr22:29130679 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1034A>T (p.His345Leu) | single nucleotide variant | Familial cancer of breast [RCV000635957] | Chr22:28696962 [GRCh38] Chr22:29092950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1184T>C (p.Val395Ala) | single nucleotide variant | Familial cancer of breast [RCV000635959]|Hereditary cancer-predisposing syndrome [RCV005318467] | Chr22:28695785 [GRCh38] Chr22:29091773 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.885A>G (p.Glu295=) | single nucleotide variant | Familial cancer of breast [RCV001462161]|Hereditary cancer-predisposing syndrome [RCV001182083]|not provided [RCV004783830] | Chr22:28703528 [GRCh38] Chr22:29099516 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.846+10A>T | single nucleotide variant | Familial cancer of breast [RCV000635974] | Chr22:28709996 [GRCh38] Chr22:29105984 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1557A>C (p.Arg519=) | single nucleotide variant | Familial cancer of breast [RCV000635979] | Chr22:28687972 [GRCh38] Chr22:29083960 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+8G>A | single nucleotide variant | Familial cancer of breast [RCV001430951] | Chr22:28703497 [GRCh38] Chr22:29099485 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.684-4C>T | single nucleotide variant | Familial cancer of breast [RCV000635991]|Hereditary cancer-predisposing syndrome [RCV002360544] | Chr22:28712021 [GRCh38] Chr22:29108009 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.102G>A (p.Gln34=) | single nucleotide variant | Familial cancer of breast [RCV000636003]|Hereditary cancer-predisposing syndrome [RCV002386019] | Chr22:28734620 [GRCh38] Chr22:29130608 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=) | single nucleotide variant | Familial cancer of breast [RCV000636005]|Hereditary cancer-predisposing syndrome [RCV001178560]|not specified [RCV003479180] | Chr22:28687906 [GRCh38] Chr22:29083894 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.444+4G>A | single nucleotide variant | Familial cancer of breast [RCV000636009] | Chr22:28725239 [GRCh38] Chr22:29121227 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.286T>C (p.Leu96=) | single nucleotide variant | Familial cancer of breast [RCV000636010]|Hereditary cancer-predisposing syndrome [RCV003303006] | Chr22:28734436 [GRCh38] Chr22:29130424 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1320C>T (p.Ile440=) | single nucleotide variant | Familial cancer of breast [RCV000636029] | Chr22:28695182 [GRCh38] Chr22:29091170 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.177A>T (p.Thr59=) | single nucleotide variant | Familial cancer of breast [RCV000636053] | Chr22:28734545 [GRCh38] Chr22:29130533 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-26G>C | single nucleotide variant | not specified [RCV000600422] | Chr22:28741788 [GRCh38] Chr22:29137776 [GRCh37] Chr22:22q12.1 |
likely benign |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q12.1(chr22:29115517-29152791)x1 | copy number loss | See cases [RCV000512465] | Chr22:29115517..29152791 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1087C>T (p.Leu363Phe) | single nucleotide variant | Familial cancer of breast [RCV000686687] | Chr22:28696909 [GRCh38] Chr22:29092897 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) | single nucleotide variant | Familial cancer of breast [RCV000662711]|Hereditary cancer-predisposing syndrome [RCV004026069]|not provided [RCV004702266] | Chr22:28695226 [GRCh38] Chr22:29091214 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) | single nucleotide variant | Familial cancer of breast [RCV002531391]|Sarcoma [RCV000677872] | Chr22:28725346 [GRCh38] Chr22:29121334 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.422del (p.Lys141fs) | deletion | not provided [RCV000657401] | Chr22:28725265 [GRCh38] Chr22:29121253 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.836del (p.Lys279fs) | deletion | Familial cancer of breast [RCV001861676]|Hereditary cancer-predisposing syndrome [RCV004948551]|not provided [RCV000657290] | Chr22:28710016 [GRCh38] Chr22:29106004 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) | duplication | Familial cancer of breast [RCV003336122]|not provided [RCV000657379] | Chr22:28725254..28725255 [GRCh38] Chr22:29121242..29121243 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.593-14C>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414525]|Familial cancer of breast [RCV000662945]|Hereditary cancer-predisposing syndrome [RCV001181298] | Chr22:28719499 [GRCh38] Chr22:29115487 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer) | duplication | Familial cancer of breast [RCV005091885]|not provided [RCV000657340] | Chr22:28711958..28711959 [GRCh38] Chr22:29107946..29107947 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1348G>A (p.Glu450Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000664265] | Chr22:28695154 [GRCh38] Chr22:29091142 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-28_909-20del | deletion | Familial cancer of breast [RCV000663167]|Hereditary cancer-predisposing syndrome [RCV000773639] | Chr22:28699957..28699965 [GRCh38] Chr22:29095945..29095953 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-6-2A>G | single nucleotide variant | Familial cancer of breast [RCV000663043] | Chr22:28734729 [GRCh38] Chr22:29130717 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-6T>G | single nucleotide variant | Familial cancer of breast [RCV000663238] | Chr22:28703572 [GRCh38] Chr22:29099560 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) | duplication | Familial cancer of breast [RCV000699597] | Chr22:28695774..28695775 [GRCh38] Chr22:29091762..29091763 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.506T>G (p.Phe169Cys) | single nucleotide variant | Familial cancer of breast [RCV000699653] | Chr22:28725063 [GRCh38] Chr22:29121051 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792_792+1del | deletion | CHEK2-related cancer predisposition [RCV005367515]|Familial cancer of breast [RCV000699766]|Hereditary cancer-predisposing syndrome [RCV004026484] | Chr22:28711908..28711909 [GRCh38] Chr22:29107896..29107897 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1404_1407delinsT (p.Val469del) | indel | Familial cancer of breast [RCV000686401] | Chr22:28694086..28694089 [GRCh38] Chr22:29090074..29090077 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+16G>A | single nucleotide variant | Familial cancer of breast [RCV002066993]|not provided [RCV000679673] | Chr22:28695111 [GRCh38] Chr22:29091099 [GRCh37] Chr22:22q12.1 |
likely benign |
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 | copy number gain | not provided [RCV000684530] | Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3 |
pathogenic |
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004720319]|Familial cancer of breast [RCV002542390]|Hereditary cancer-predisposing syndrome [RCV001804652] | Chr22:28711985 [GRCh38] Chr22:29107973 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1379T>C (p.Leu460Pro) | single nucleotide variant | Familial cancer of breast [RCV000702639]|Hereditary cancer-predisposing syndrome [RCV001011254] | Chr22:28694114 [GRCh38] Chr22:29090102 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.818A>T (p.Glu273Val) | single nucleotide variant | Familial cancer of breast [RCV000688529]|Hereditary cancer-predisposing syndrome [RCV003343991] | Chr22:28710034 [GRCh38] Chr22:29106022 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+2T>C | single nucleotide variant | Familial cancer of breast [RCV000685127]|Hereditary cancer-predisposing syndrome [RCV004026184]|Malignant tumor of breast [RCV001357999] | Chr22:28719393 [GRCh38] Chr22:29115381 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser) | single nucleotide variant | Familial cancer of breast [RCV000706680]|not provided [RCV001775979] | Chr22:28734444 [GRCh38] Chr22:29130432 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr) | single nucleotide variant | Familial cancer of breast [RCV000692738] | Chr22:28725356 [GRCh38] Chr22:29121344 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.325G>C (p.Val109Leu) | single nucleotide variant | Familial cancer of breast [RCV000694566] | Chr22:28725362 [GRCh38] Chr22:29121350 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) | deletion | Familial cancer of breast [RCV003336160]|Hereditary cancer-predisposing syndrome [RCV000708608] | Chr22:28695805 [GRCh38] Chr22:29091793 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet) | deletion | Familial cancer of breast [RCV000687235] | Chr22:28710022..28710024 [GRCh38] Chr22:29106010..29106012 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) | deletion | Familial cancer of breast [RCV000694776]|Hereditary cancer-predisposing syndrome [RCV005318483]|not provided [RCV003319406] | Chr22:28699839 [GRCh38] Chr22:29095827 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.486T>A (p.Asp162Glu) | single nucleotide variant | Familial cancer of breast [RCV000687279] | Chr22:28725083 [GRCh38] Chr22:29121071 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+3965C>T | single nucleotide variant | CHEK2-related disorder [RCV004737971]|Familial cancer of breast [RCV000709601]|Familial cancer of breast [RCV002485782]|Hereditary breast ovarian cancer syndrome [RCV001030690] | Chr22:28730438 [GRCh38] Chr22:29126426 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.-9G>C | single nucleotide variant | Familial cancer of breast [RCV000709603] | Chr22:28741771 [GRCh38] Chr22:29137759 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val) | single nucleotide variant | Familial cancer of breast [RCV000704505]|Hereditary cancer-predisposing syndrome [RCV002343554]|not provided [RCV003227839] | Chr22:28695761 [GRCh38] Chr22:29091749 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val) | single nucleotide variant | Familial cancer of breast [RCV000707276]|Hereditary cancer-predisposing syndrome [RCV001184818] | Chr22:28734610 [GRCh38] Chr22:29130598 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.320A>G (p.Glu107Gly) | single nucleotide variant | Familial cancer of breast [RCV000694896]|Hereditary cancer-predisposing syndrome [RCV001019235] | Chr22:28725367 [GRCh38] Chr22:29121355 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro) | single nucleotide variant | Familial cancer of breast [RCV000694957]|Hereditary cancer-predisposing syndrome [RCV002360764]|not provided [RCV003238184] | Chr22:28719401 [GRCh38] Chr22:29115389 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly) | single nucleotide variant | Familial cancer of breast [RCV000704950]|Hereditary cancer-predisposing syndrome [RCV001012128]|not provided [RCV001556418] | Chr22:28687977 [GRCh38] Chr22:29083965 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met) | single nucleotide variant | Familial cancer of breast [RCV000707491]|Hereditary cancer-predisposing syndrome [RCV001020488] | Chr22:28725337 [GRCh38] Chr22:29121325 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+2T>C | single nucleotide variant | Breast and/or ovarian cancer [RCV003492132]|Familial cancer of breast [RCV000693670]|Hereditary cancer-predisposing syndrome [RCV002388249]|not provided [RCV000708609] | Chr22:28694030 [GRCh38] Chr22:29090018 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.432del (p.Arg145fs) | deletion | Familial cancer of breast [RCV000690907]|Hereditary cancer-predisposing syndrome [RCV002332426]|not provided [RCV001571355] | Chr22:28725255 [GRCh38] Chr22:29121243 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1375G>A (p.Ala459Thr) | single nucleotide variant | Familial cancer of breast [RCV000691003]|Hereditary breast ovarian cancer syndrome [RCV005251170]|Hereditary cancer-predisposing syndrome [RCV002386191] | Chr22:28695127 [GRCh38] Chr22:29091115 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.932A>G (p.Asp311Gly) | single nucleotide variant | Familial cancer of breast [RCV000705247]|Hereditary cancer-predisposing syndrome [RCV002369959] | Chr22:28699914 [GRCh38] Chr22:29095902 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.621del (p.Asp207fs) | deletion | Familial cancer of breast [RCV000705252] | Chr22:28719457 [GRCh38] Chr22:29115445 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28709996)_(28734731_?)del | deletion | Familial cancer of breast [RCV000707833] | Chr22:28709996..28734731 [GRCh38] Chr22:29105984..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28694026)_(28734727_?)del | deletion | Familial cancer of breast [RCV000707896] | Chr22:28694026..28734727 [GRCh38] Chr22:29090014..29130715 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29120955)_(29121365_?)dup | duplication | Familial cancer of breast [RCV000707903] | Chr22:28724967..28725377 [GRCh38] Chr22:29120955..29121365 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28724967)_(28734731_?)del | deletion | Familial cancer of breast [RCV000708015] | Chr22:28724967..28734731 [GRCh38] Chr22:29120955..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29083875)_(29085213_?)dup | duplication | Familial cancer of breast [RCV000708041] | Chr22:28687887..28689225 [GRCh38] Chr22:29083875..29085213 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.971G>A (p.Cys324Tyr) | single nucleotide variant | Familial cancer of breast [RCV000688816]|Hereditary cancer-predisposing syndrome [RCV004948580] | Chr22:28699875 [GRCh38] Chr22:29095863 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.556A>T (p.Asn186Tyr) | single nucleotide variant | Familial cancer of breast [RCV000688890] | Chr22:28725013 [GRCh38] Chr22:29121001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly) | single nucleotide variant | Familial cancer of breast [RCV000705764]|Hereditary cancer-predisposing syndrome [RCV001525428] | Chr22:28703526 [GRCh38] Chr22:29099514 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28709996)_(28712027_?)del | deletion | Familial cancer of breast [RCV000708078] | Chr22:28709996..28712027 [GRCh38] Chr22:29105984..29108015 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg) | single nucleotide variant | Familial cancer of breast [RCV000699293] | Chr22:28687931 [GRCh38] Chr22:29083919 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.591A>G (p.Lys197=) | single nucleotide variant | Familial cancer of breast [RCV000688922] | Chr22:28724978 [GRCh38] Chr22:29120966 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29105984)_(29115483_?)dup | duplication | Familial cancer of breast [RCV000708150] | Chr22:28709996..28719495 [GRCh38] Chr22:29105984..29115483 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.124T>A (p.Ser42Thr) | single nucleotide variant | Familial cancer of breast [RCV000689101] | Chr22:28734598 [GRCh38] Chr22:29130586 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg) | single nucleotide variant | Familial cancer of breast [RCV000694276]|Hereditary cancer-predisposing syndrome [RCV001011845]|not specified [RCV003320478] | Chr22:28734574 [GRCh38] Chr22:29130562 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe) | single nucleotide variant | Familial cancer of breast [RCV000685881]|Hereditary cancer-predisposing syndrome [RCV001191643] | Chr22:28734522 [GRCh38] Chr22:29130510 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.304G>A (p.Gly102Arg) | single nucleotide variant | Familial cancer of breast [RCV000689346]|Hereditary cancer-predisposing syndrome [RCV002442434] | Chr22:28734418 [GRCh38] Chr22:29130406 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28695117)_(28703576_?)del | deletion | Familial cancer of breast [RCV004583759] | Chr22:28695117..28703576 [GRCh38] Chr22:29091105..29099564 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser) | single nucleotide variant | Familial cancer of breast [RCV000700391]|Hereditary cancer-predisposing syndrome [RCV001016305]|not provided [RCV002473119] | Chr22:28734454 [GRCh38] Chr22:29130442 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs) | deletion | Familial cancer of breast [RCV000703737] | Chr22:28734589..28734604 [GRCh38] Chr22:29130577..29130592 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.952del (p.Arg318fs) | deletion | Breast and/or ovarian cancer [RCV001798966]|Familial cancer of breast [RCV000706341]|Hereditary breast ovarian cancer syndrome [RCV004782522]|Hereditary cancer-predisposing syndrome [RCV002369968]|not provided [RCV003478448] | Chr22:28699894 [GRCh38] Chr22:29095882 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1543-3C>G | single nucleotide variant | Familial cancer of breast [RCV000706472] | Chr22:28687989 [GRCh38] Chr22:29083977 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) | single nucleotide variant | Familial cancer of breast [RCV000686426] | Chr22:28694039 [GRCh38] Chr22:29090027 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser) | single nucleotide variant | Familial cancer of breast [RCV000700923]|Hereditary cancer-predisposing syndrome [RCV001175832] | Chr22:28734507 [GRCh38] Chr22:29130495 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.374T>C (p.Phe125Ser) | single nucleotide variant | Familial cancer of breast [RCV000701108]|Hereditary cancer-predisposing syndrome [RCV004948615] | Chr22:28725313 [GRCh38] Chr22:29121301 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.869del (p.Asn290fs) | deletion | Familial cancer of breast [RCV000689709]|Hereditary cancer-predisposing syndrome [RCV004026334] | Chr22:28703544 [GRCh38] Chr22:29099532 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.193A>G (p.Thr65Ala) | single nucleotide variant | Familial cancer of breast [RCV000692543] | Chr22:28734529 [GRCh38] Chr22:29130517 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1238T>C (p.Leu413Ser) | single nucleotide variant | Familial cancer of breast [RCV000692596]|Hereditary cancer-predisposing syndrome [RCV002369864] | Chr22:28695731 [GRCh38] Chr22:29091719 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.430T>C (p.Phe144Leu) | single nucleotide variant | Familial cancer of breast [RCV000698264] | Chr22:28725257 [GRCh38] Chr22:29121245 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu) | single nucleotide variant | Familial cancer of breast [RCV000698440]|Hereditary cancer-predisposing syndrome [RCV001183321] | Chr22:28725296 [GRCh38] Chr22:29121284 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.638C>G (p.Pro213Arg) | single nucleotide variant | Familial cancer of breast [RCV000692345]|Hereditary cancer-predisposing syndrome [RCV002352141] | Chr22:28719440 [GRCh38] Chr22:29115428 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly) | single nucleotide variant | Familial cancer of breast [RCV000694661]|Hereditary cancer-predisposing syndrome [RCV001191953] | Chr22:28687937 [GRCh38] Chr22:29083925 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val) | single nucleotide variant | Familial cancer of breast [RCV001246391]|Hereditary cancer-predisposing syndrome [RCV000708694] | Chr22:28695189 [GRCh38] Chr22:29091177 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val) | single nucleotide variant | Familial cancer of breast [RCV001210648]|Hereditary cancer-predisposing syndrome [RCV000708696] | Chr22:28687910 [GRCh38] Chr22:29083898 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.911T>A (p.Met304Lys) | single nucleotide variant | Familial cancer of breast [RCV005092055]|Hereditary cancer-predisposing syndrome [RCV000708698] | Chr22:28699935 [GRCh38] Chr22:29095923 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del | deletion | Hereditary cancer-predisposing syndrome [RCV000708773] | pathogenic | |
NM_007194.4(CHEK2):c.1022del (p.Asn341fs) | deletion | Familial cancer of breast [RCV000706598]|Hereditary cancer-predisposing syndrome [RCV005318496] | Chr22:28696974 [GRCh38] Chr22:29092962 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.62C>T (p.Pro21Leu) | single nucleotide variant | Familial cancer of breast [RCV000694803]|Hereditary cancer-predisposing syndrome [RCV004025220] | Chr22:28734660 [GRCh38] Chr22:29130648 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser) | single nucleotide variant | Familial cancer of breast [RCV000709594] | Chr22:28687962 [GRCh38] Chr22:29083950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) | deletion | Familial cancer of breast [RCV000709595] | Chr22:28695140..28695141 [GRCh38] Chr22:29091128..29091129 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) | single nucleotide variant | Familial cancer of breast [RCV000709598]|Hereditary cancer-predisposing syndrome [RCV002386280] | Chr22:28699858 [GRCh38] Chr22:29095846 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg) | single nucleotide variant | Familial cancer of breast [RCV000709599]|Hereditary cancer-predisposing syndrome [RCV005318499] | Chr22:28725295 [GRCh38] Chr22:29121283 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+3966G>A | single nucleotide variant | CHEK2-related disorder [RCV004535758]|Familial cancer of breast [RCV000709600]|not provided [RCV000997891] | Chr22:28730437 [GRCh38] Chr22:29126425 [GRCh37] Chr22:22q12.1 |
likely pathogenic|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.334_336del (p.Asn112del) | deletion | Familial cancer of breast [RCV000697432] | Chr22:28725351..28725353 [GRCh38] Chr22:29121339..29121341 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.302A>G (p.Asp101Gly) | single nucleotide variant | Familial cancer of breast [RCV000692811]|not provided [RCV004546552] | Chr22:28734420 [GRCh38] Chr22:29130408 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005357954]|Familial cancer of breast [RCV001050108]|Hereditary cancer-predisposing syndrome [RCV000708697]|not provided [RCV004702365] | Chr22:28725253 [GRCh38] Chr22:29121241 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.971del (p.Cys324fs) | deletion | Familial cancer of breast [RCV000709716] | Chr22:28699875 [GRCh38] Chr22:29095863 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.494del (p.Gly165fs) | deletion | Familial cancer of breast [RCV000709717] | Chr22:28725075 [GRCh38] Chr22:29121063 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) | deletion | Familial cancer of breast [RCV000709718] | Chr22:28695835 [GRCh38] Chr22:29091823 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys) | single nucleotide variant | Familial cancer of breast [RCV000707035]|not provided [RCV003480796] | Chr22:28734466 [GRCh38] Chr22:29130454 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-3C>T | single nucleotide variant | Familial cancer of breast [RCV000690302] | Chr22:28699940 [GRCh38] Chr22:29095928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) | single nucleotide variant | Familial cancer of breast [RCV000707182]|Hereditary cancer-predisposing syndrome [RCV003165931] | Chr22:28689212 [GRCh38] Chr22:29085200 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.296T>A (p.Leu99His) | single nucleotide variant | Familial cancer of breast [RCV000693230] | Chr22:28734426 [GRCh38] Chr22:29130414 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+2T>G | single nucleotide variant | Familial cancer of breast [RCV000695376]|Malignant lymphoma, large B-cell, diffuse [RCV003448982] | Chr22:28696899 [GRCh38] Chr22:29092887 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met) | indel | Familial cancer of breast [RCV000704813]|Hereditary cancer-predisposing syndrome [RCV001184090] | Chr22:28699921..28699922 [GRCh38] Chr22:29095909..29095910 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.118_119delinsCC (p.Ser40Pro) | indel | Familial cancer of breast [RCV000693526] | Chr22:28734603..28734604 [GRCh38] Chr22:29130591..29130592 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) | deletion | Familial cancer of breast [RCV000693565]|not provided [RCV003238183] | Chr22:28725286..28725287 [GRCh38] Chr22:29121274..29121275 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1457T>C (p.Leu486Pro) | single nucleotide variant | Familial cancer of breast [RCV000690865] | Chr22:28694036 [GRCh38] Chr22:29090024 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.161_164del (p.His54fs) | deletion | Familial cancer of breast [RCV000705355] | Chr22:28734558..28734561 [GRCh38] Chr22:29130546..29130549 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29083875)_(29115483_?)dup | duplication | Familial cancer of breast [RCV000708031] | Chr22:28687887..28719495 [GRCh38] Chr22:29083875..29115483 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.283C>G (p.Arg95Gly) | single nucleotide variant | Familial cancer of breast [RCV000696330]|Hereditary cancer-predisposing syndrome [RCV001016744] | Chr22:28734439 [GRCh38] Chr22:29130427 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.776G>C (p.Gly259Ala) | single nucleotide variant | Familial cancer of breast [RCV000699174] | Chr22:28711925 [GRCh38] Chr22:29107913 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+1_908+8delinsTT | indel | Familial cancer of breast [RCV005208595]|Hereditary cancer-predisposing syndrome [RCV002442412] | Chr22:28703497..28703504 [GRCh38] Chr22:29099485..29099492 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.319+3A>T | single nucleotide variant | Familial cancer of breast [RCV000697934] | Chr22:28734400 [GRCh38] Chr22:29130388 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28734393)_(28734731_?)del | deletion | Familial cancer of breast [RCV000708102] | Chr22:28734393..28734731 [GRCh38] Chr22:29130381..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.685G>C (p.Gly229Arg) | single nucleotide variant | Familial cancer of breast [RCV000696390]|Hereditary cancer-predisposing syndrome [RCV002360773] | Chr22:28712016 [GRCh38] Chr22:29108004 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr) | single nucleotide variant | Familial cancer of breast [RCV000696437]|Hereditary cancer-predisposing syndrome [RCV001009732] | Chr22:28696965 [GRCh38] Chr22:29092953 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.182G>A (p.Ser61Asn) | single nucleotide variant | Familial cancer of breast [RCV000699556]|Hereditary cancer-predisposing syndrome [RCV003303173] | Chr22:28734540 [GRCh38] Chr22:29130528 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.568G>A (p.Ala190Thr) | single nucleotide variant | Familial cancer of breast [RCV000698265]|Hereditary cancer-predisposing syndrome [RCV004609498] | Chr22:28725001 [GRCh38] Chr22:29120989 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala) | single nucleotide variant | Familial cancer of breast [RCV000691477]|not specified [RCV003317343] | Chr22:28734549 [GRCh38] Chr22:29130537 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28703495)_(28703576_?)del | deletion | Familial cancer of breast [RCV000708187] | Chr22:28703495..28703576 [GRCh38] Chr22:29099483..29099564 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29083879)_(29095931_?)dup | duplication | Familial cancer of breast [RCV000708219] | Chr22:28687891..28699943 [GRCh38] Chr22:29083879..29095931 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly) | single nucleotide variant | Familial cancer of breast [RCV000696560]|Hereditary cancer-predisposing syndrome [RCV001176908]|not provided [RCV002469266] | Chr22:28695189 [GRCh38] Chr22:29091177 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.660CAT[1] (p.Ile221del) | microsatellite | Familial cancer of breast [RCV000696657] | Chr22:28719413..28719415 [GRCh38] Chr22:29115401..29115403 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1108G>A (p.Gly370Arg) | single nucleotide variant | Familial cancer of breast [RCV000700322]|Hereditary cancer-predisposing syndrome [RCV002458281] | Chr22:28695861 [GRCh38] Chr22:29091849 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28724967)_(28725377_?)del | deletion | Familial cancer of breast [RCV000708346] | Chr22:28724967..28725377 [GRCh38] Chr22:29120955..29121365 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.383del (p.Pro128fs) | deletion | Familial cancer of breast [RCV000696835] | Chr22:28725304 [GRCh38] Chr22:29121292 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr) | single nucleotide variant | Familial cancer of breast [RCV000686038]|Hereditary cancer-predisposing syndrome [RCV002397366] | Chr22:28687913 [GRCh38] Chr22:29083901 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val) | single nucleotide variant | Familial cancer of breast [RCV000700813]|Hereditary cancer-predisposing syndrome [RCV001017971] | Chr22:28703560 [GRCh38] Chr22:29099548 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala) | single nucleotide variant | Familial cancer of breast [RCV000705971]|Hereditary cancer-predisposing syndrome [RCV001010716] | Chr22:28734595 [GRCh38] Chr22:29130583 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1616_1627dup (p.Val542_Leu543insCysAlaAlaVal) | duplication | Familial cancer of breast [RCV000686693]|Hereditary cancer-predisposing syndrome [RCV001191646] | Chr22:28687901..28687902 [GRCh38] Chr22:29083889..29083890 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) | deletion | Familial cancer of breast [RCV000692012]|Hereditary cancer-predisposing syndrome [RCV002386197] | Chr22:28699861 [GRCh38] Chr22:29095849 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1439C>G (p.Ala480Gly) | single nucleotide variant | Familial cancer of breast [RCV000701346]|Hereditary cancer-predisposing syndrome [RCV002388312] | Chr22:28694054 [GRCh38] Chr22:29090042 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.893A>G (p.Tyr298Cys) | single nucleotide variant | Familial cancer of breast [RCV000689412]|Hereditary cancer-predisposing syndrome [RCV002369850] | Chr22:28703520 [GRCh38] Chr22:29099508 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1513T>G (p.Ser505Ala) | single nucleotide variant | Familial cancer of breast [RCV000692232]|Hereditary cancer-predisposing syndrome [RCV003352987] | Chr22:28689164 [GRCh38] Chr22:29085152 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1561C>G (p.Arg521Gly) | single nucleotide variant | Familial cancer of breast [RCV000706358] | Chr22:28687968 [GRCh38] Chr22:29083956 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-11C>T | single nucleotide variant | Familial cancer of breast [RCV002067275]|Hereditary cancer-predisposing syndrome [RCV000773806] | Chr22:28725135 [GRCh38] Chr22:29121123 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1588_1589insATGCCGCGGGGCCCAGGGTG (p.Ala530fs) | insertion | Hereditary cancer-predisposing syndrome [RCV004607833] | Chr22:28687940..28687941 [GRCh38] Chr22:29083928..29083929 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-1del | deletion | Hereditary cancer-predisposing syndrome [RCV004607835] | Chr22:28703567 [GRCh38] Chr22:29099555 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1322C>T (p.Thr441Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607838]|not provided [RCV004759430] | Chr22:28695180 [GRCh38] Chr22:29091168 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.369_442dup (p.Arg148delinsIleAlaLeuMetAsnHisCysTer) | duplication | Hereditary cancer-predisposing syndrome [RCV004607847] | Chr22:28725244..28725245 [GRCh38] Chr22:29121232..29121233 [GRCh37] Chr22:22q12.1 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) | deletion | not provided [RCV001730208] | Chr22:28734643..28734644 [GRCh38] Chr22:29130631..29130632 [GRCh37] Chr22:22q12.1 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.1461+173dup | duplication | not provided [RCV001565277] | Chr22:28693858..28693859 [GRCh38] Chr22:29089846..29089847 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+4338C>T | single nucleotide variant | not provided [RCV001585264] | Chr22:28730065 [GRCh38] Chr22:29126053 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1095+169G>A | single nucleotide variant | not provided [RCV001666533] | Chr22:28696732 [GRCh38] Chr22:29092720 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.879T>C (p.Asp293=) | single nucleotide variant | Familial cancer of breast [RCV001424841] | Chr22:28703534 [GRCh38] Chr22:29099522 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.592+50A>T | single nucleotide variant | CHEK2-related disorder [RCV004536016]|Familial cancer of breast [RCV000990393]|not provided [RCV001357012]|not specified [RCV002465817] | Chr22:28724927 [GRCh38] Chr22:29120915 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.319+3980C>T | single nucleotide variant | Familial cancer of breast [RCV000990396] | Chr22:28730423 [GRCh38] Chr22:29126411 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28687897)_(28719495_?)dup | duplication | Familial cancer of breast [RCV001032017] | Chr22:29083885..29115483 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687897)_(28725377_?)del | deletion | Familial cancer of breast [RCV001031271] | Chr22:29083885..29121365 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28734393)_(28734725_?)del | deletion | Familial cancer of breast [RCV001031287] | Chr22:29130381..29130713 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.819A>T (p.Glu273Asp) | single nucleotide variant | Familial cancer of breast [RCV001067618] | Chr22:28710033 [GRCh38] Chr22:29106021 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687897)_(28689225_?)dup | duplication | Familial cancer of breast [RCV001031026] | Chr22:29083885..29085213 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-49_1095+51del | deletion | Familial cancer of breast [RCV001706780] | Chr22:28696850..28699986 [GRCh38] Chr22:29092838..29095974 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.844C>A (p.His282Asn) | single nucleotide variant | Familial cancer of breast [RCV001045996] | Chr22:28710008 [GRCh38] Chr22:29105996 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792+250dup | duplication | not provided [RCV001586312] | Chr22:28711658..28711659 [GRCh38] Chr22:29107646..29107647 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.195A>G (p.Thr65=) | single nucleotide variant | not provided [RCV000928427] | Chr22:28734527 [GRCh38] Chr22:29130515 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.126T>A (p.Ser42=) | single nucleotide variant | Familial cancer of breast [RCV001498793]|Hereditary cancer-predisposing syndrome [RCV003307600]|not provided [RCV000865222] | Chr22:28734596 [GRCh38] Chr22:29130584 [GRCh37] Chr22:22q12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=) | single nucleotide variant | CHEK2-related disorder [RCV004533579]|Familial cancer of breast [RCV000929343]|Hereditary cancer-predisposing syndrome [RCV002390940] | Chr22:28696964 [GRCh38] Chr22:29092952 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.960A>G (p.Lys320=) | single nucleotide variant | Familial cancer of breast [RCV001504623]|Hereditary cancer-predisposing syndrome [RCV002382168] | Chr22:28699886 [GRCh38] Chr22:29095874 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.306A>G (p.Gly102=) | single nucleotide variant | Familial cancer of breast [RCV001478709]|Hereditary cancer-predisposing syndrome [RCV001018438] | Chr22:28734416 [GRCh38] Chr22:29130404 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.792+10A>G | single nucleotide variant | Familial cancer of breast [RCV001456516]|not provided [RCV000982046] | Chr22:28711899 [GRCh38] Chr22:29107887 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.822A>C (p.Ile274=) | single nucleotide variant | Familial cancer of breast [RCV001505914] | Chr22:28710030 [GRCh38] Chr22:29106018 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=) | single nucleotide variant | Familial cancer of breast [RCV001453384]|Hereditary cancer-predisposing syndrome [RCV001177992] | Chr22:28695808 [GRCh38] Chr22:29091796 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+4del | deletion | Familial cancer of breast [RCV001040514] | Chr22:28710002 [GRCh38] Chr22:29105990 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1315C>A (p.Gln439Lys) | single nucleotide variant | Familial cancer of breast [RCV001057992]|Hereditary cancer-predisposing syndrome [RCV003160468] | Chr22:28695187 [GRCh38] Chr22:29091175 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.635A>G (p.Tyr212Cys) | single nucleotide variant | Familial cancer of breast [RCV001057994] | Chr22:28719443 [GRCh38] Chr22:29115431 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096-7A>G | single nucleotide variant | Familial cancer of breast [RCV001036808] | Chr22:28695880 [GRCh38] Chr22:29091868 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.705G>C (p.Lys235Asn) | single nucleotide variant | Familial cancer of breast [RCV001058205] | Chr22:28711996 [GRCh38] Chr22:29107984 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.452del (p.Gly151fs) | deletion | Familial cancer of breast [RCV001041222] | Chr22:28725117 [GRCh38] Chr22:29121105 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile) | single nucleotide variant | Familial cancer of breast [RCV001041329]|Hereditary cancer-predisposing syndrome [RCV001177798] | Chr22:28710037 [GRCh38] Chr22:29106025 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys) | single nucleotide variant | Familial cancer of breast [RCV001062326]|Hereditary cancer-predisposing syndrome [RCV002320320]|not specified [RCV004596404] | Chr22:28734403 [GRCh38] Chr22:29130391 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr) | single nucleotide variant | Familial cancer of breast [RCV001053085]|not provided [RCV001759989] | Chr22:28711949 [GRCh38] Chr22:29107937 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu) | single nucleotide variant | Familial cancer of breast [RCV001042055]|not specified [RCV005232077] | Chr22:28711998 [GRCh38] Chr22:29107986 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter) | single nucleotide variant | Familial cancer of breast [RCV001051488] | Chr22:28695739 [GRCh38] Chr22:29091727 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1363G>T (p.Val455Phe) | single nucleotide variant | Familial cancer of breast [RCV001051763] | Chr22:28695139 [GRCh38] Chr22:29091127 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1008+1G>C | single nucleotide variant | Familial cancer of breast [RCV001037898] | Chr22:28699837 [GRCh38] Chr22:29095825 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) | deletion | Familial cancer of breast [RCV001038430]|not provided [RCV003493785] | Chr22:28689196 [GRCh38] Chr22:29085184 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.429C>A (p.His143Gln) | single nucleotide variant | Familial cancer of breast [RCV001053589]|Hereditary cancer-predisposing syndrome [RCV002327313] | Chr22:28725258 [GRCh38] Chr22:29121246 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28694022)_(28703576_?)dup | duplication | Familial cancer of breast [RCV001033721] | Chr22:29090010..29099564 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.743T>G (p.Ile248Arg) | single nucleotide variant | Familial cancer of breast [RCV001051177] | Chr22:28711958 [GRCh38] Chr22:29107946 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.809T>G (p.Val270Gly) | single nucleotide variant | Familial cancer of breast [RCV001068580] | Chr22:28710043 [GRCh38] Chr22:29106031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1210T>C (p.Tyr404His) | single nucleotide variant | Familial cancer of breast [RCV001035962] | Chr22:28695759 [GRCh38] Chr22:29091747 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.664A>C (p.Met222Leu) | single nucleotide variant | Familial cancer of breast [RCV001037596] | Chr22:28719414 [GRCh38] Chr22:29115402 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687897)_(28696997_?)del | deletion | Familial cancer of breast [RCV001032788] | Chr22:29083885..29092985 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1561del (p.Arg521fs) | deletion | Familial cancer of breast [RCV001060037] | Chr22:28687968 [GRCh38] Chr22:29083956 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+4G>C | single nucleotide variant | Familial cancer of breast [RCV001060548]|Hereditary cancer-predisposing syndrome [RCV003353137] | Chr22:28694028 [GRCh38] Chr22:29090016 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.402_407del (p.Lys135_Tyr136del) | deletion | Familial cancer of breast [RCV001070678] | Chr22:28725280..28725285 [GRCh38] Chr22:29121268..29121273 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1334A>G (p.Tyr445Cys) | single nucleotide variant | Familial cancer of breast [RCV001060876]|Hereditary cancer-predisposing syndrome [RCV003353138] | Chr22:28695168 [GRCh38] Chr22:29091156 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28694022)_(28694127_?)del | deletion | Familial cancer of breast [RCV000823969] | Chr22:28694022..28694127 [GRCh38] Chr22:29090010..29090115 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1259+16A>G | single nucleotide variant | Familial cancer of breast [RCV005092311]|Hereditary cancer-predisposing syndrome [RCV000777667] | Chr22:28695694 [GRCh38] Chr22:29091682 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1009-7T>G | single nucleotide variant | Familial cancer of breast [RCV000938891]|Hereditary cancer-predisposing syndrome [RCV000777669]|not provided [RCV003480810]|not specified [RCV003320480] | Chr22:28696994 [GRCh38] Chr22:29092982 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002440615]|not specified [RCV000780177] | Chr22:28695855 [GRCh38] Chr22:29091843 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro) | single nucleotide variant | Familial cancer of breast [RCV001309145]|Hereditary cancer-predisposing syndrome [RCV004027314]|not specified [RCV000780182] | Chr22:28710013 [GRCh38] Chr22:29106001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.189A>G (p.Leu63=) | single nucleotide variant | Familial cancer of breast [RCV000938452]|Hereditary cancer-predisposing syndrome [RCV000771776] | Chr22:28734533 [GRCh38] Chr22:29130521 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.985T>A (p.Tyr329Asn) | single nucleotide variant | Familial cancer of breast [RCV005092233]|Hereditary cancer-predisposing syndrome [RCV000772456] | Chr22:28699861 [GRCh38] Chr22:29095849 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val) | single nucleotide variant | Familial cancer of breast [RCV002536631]|Hereditary cancer-predisposing syndrome [RCV000772466]|Hereditary nonpolyposis colon cancer [RCV005367540] | Chr22:28725064 [GRCh38] Chr22:29121052 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.942G>T (p.Val314=) | single nucleotide variant | Familial cancer of breast [RCV005249041]|Hereditary cancer-predisposing syndrome [RCV000772539] | Chr22:28699904 [GRCh38] Chr22:29095892 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.252_254delinsGCT (p.Pro85Leu) | indel | Hereditary cancer-predisposing syndrome [RCV000772624] | Chr22:28734468..28734470 [GRCh38] Chr22:29130456..29130458 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser) | single nucleotide variant | Familial cancer of breast [RCV003607347]|Hereditary cancer-predisposing syndrome [RCV000772840] | Chr22:28694043 [GRCh38] Chr22:29090031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=) | single nucleotide variant | Familial cancer of breast [RCV001494026]|Hereditary cancer-predisposing syndrome [RCV000773076] | Chr22:28687927 [GRCh38] Chr22:29083915 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005358004]|Hereditary cancer-predisposing syndrome [RCV000773418] | Chr22:28687932 [GRCh38] Chr22:29083920 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys) | single nucleotide variant | Familial cancer of breast [RCV001856053]|Hereditary cancer-predisposing syndrome [RCV000773515] | Chr22:28725280 [GRCh38] Chr22:29121268 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1199G>T (p.Gly400Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000773546] | Chr22:28695770 [GRCh38] Chr22:29091758 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.463T>G (p.Ser155Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000773789] | Chr22:28725106 [GRCh38] Chr22:29121094 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys) | single nucleotide variant | Familial cancer of breast [RCV001322772]|Hereditary cancer-predisposing syndrome [RCV000774044] | Chr22:28699898 [GRCh38] Chr22:29095886 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-10T>C | single nucleotide variant | Familial cancer of breast [RCV001394120]|Hereditary cancer-predisposing syndrome [RCV000771656] | Chr22:28687996 [GRCh38] Chr22:29083984 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.684-3del | deletion | not provided [RCV000759046] | Chr22:28712020 [GRCh38] Chr22:29108008 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr) | single nucleotide variant | Familial cancer of breast [RCV000791698]|Hereditary cancer-predisposing syndrome [RCV001805855] | Chr22:28725244 [GRCh38] Chr22:29121232 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) | insertion | Familial cancer of breast [RCV000781304]|Hereditary cancer-predisposing syndrome [RCV003584743] | Chr22:28695222..28695223 [GRCh38] Chr22:29091210..29091211 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.320-16T>C | single nucleotide variant | Familial cancer of breast [RCV002067239]|Hereditary cancer-predisposing syndrome [RCV000771775] | Chr22:28725383 [GRCh38] Chr22:29121371 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+17del | deletion | Familial cancer of breast [RCV001855738]|Hereditary cancer-predisposing syndrome [RCV000772195] | Chr22:28695110 [GRCh38] Chr22:29091098 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.445-1G>A | single nucleotide variant | Familial cancer of breast [RCV001856010]|Hereditary cancer-predisposing syndrome [RCV000772223] | Chr22:28725125 [GRCh38] Chr22:29121113 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1260-15T>G | single nucleotide variant | Familial cancer of breast [RCV002536627]|Hereditary cancer-predisposing syndrome [RCV000772370] | Chr22:28695257 [GRCh38] Chr22:29091245 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.746A>T (p.Lys249Met) | single nucleotide variant | Familial cancer of breast [RCV000792293] | Chr22:28711955 [GRCh38] Chr22:29107943 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.503C>A (p.Thr168Asn) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005367580]|Familial cancer of breast [RCV000808794] | Chr22:28725066 [GRCh38] Chr22:29121054 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu) | single nucleotide variant | Familial cancer of breast [RCV002535548]|Hereditary cancer-predisposing syndrome [RCV000775696] | Chr22:28734419 [GRCh38] Chr22:29130407 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr) | single nucleotide variant | Familial cancer of breast [RCV001337775]|Hereditary cancer-predisposing syndrome [RCV000776747] | Chr22:28689199 [GRCh38] Chr22:29085187 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr) | single nucleotide variant | Familial cancer of breast [RCV001856133]|Hereditary cancer-predisposing syndrome [RCV000776765] | Chr22:28687986 [GRCh38] Chr22:29083974 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.633T>C (p.Val211=) | single nucleotide variant | Familial cancer of breast [RCV001417202]|Hereditary cancer-predisposing syndrome [RCV000776944]|Hereditary nonpolyposis colon cancer [RCV005358019] | Chr22:28719445 [GRCh38] Chr22:29115433 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.684-7C>T | single nucleotide variant | Familial cancer of breast [RCV001417518]|Hereditary cancer-predisposing syndrome [RCV000777674]|not provided [RCV003478480] | Chr22:28712024 [GRCh38] Chr22:29108012 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.214T>C (p.Tyr72His) | single nucleotide variant | Familial cancer of breast [RCV005056536]|Hereditary cancer-predisposing syndrome [RCV000777117] | Chr22:28734508 [GRCh38] Chr22:29130496 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr) | single nucleotide variant | Familial cancer of breast [RCV001856146]|Hereditary cancer-predisposing syndrome [RCV000777470] | Chr22:28734591 [GRCh38] Chr22:29130579 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro) | single nucleotide variant | Familial cancer of breast [RCV003607358]|Hereditary cancer-predisposing syndrome [RCV000777537] | Chr22:28695719 [GRCh38] Chr22:29091707 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.642G>A (p.Lys214=) | single nucleotide variant | Familial cancer of breast [RCV003768338]|Hereditary cancer-predisposing syndrome [RCV000773044] | Chr22:28719436 [GRCh38] Chr22:29115424 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.690C>G (p.Ala230=) | single nucleotide variant | Familial cancer of breast [RCV001456656]|Hereditary cancer-predisposing syndrome [RCV000773602] | Chr22:28712011 [GRCh38] Chr22:29107999 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu) | single nucleotide variant | Familial cancer of breast [RCV001204829]|Hereditary cancer-predisposing syndrome [RCV000773973] | Chr22:28719440 [GRCh38] Chr22:29115428 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) | single nucleotide variant | Familial cancer of breast [RCV002534146]|Hereditary cancer-predisposing syndrome [RCV000774502]|not provided [RCV001775993] | Chr22:28689154 [GRCh38] Chr22:29085142 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.305G>C (p.Gly102Ala) | single nucleotide variant | Familial cancer of breast [RCV000809227]|Hereditary cancer-predisposing syndrome [RCV002442709] | Chr22:28734417 [GRCh38] Chr22:29130405 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005029490]|Familial cancer of breast [RCV000809243]|Hereditary cancer-predisposing syndrome [RCV002370168] | Chr22:28695220 [GRCh38] Chr22:29091208 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) | single nucleotide variant | Familial cancer of breast [RCV001068002]|Hereditary cancer-predisposing syndrome [RCV000777672]|not provided [RCV003225119] | Chr22:28711976 [GRCh38] Chr22:29107964 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly) | single nucleotide variant | Familial cancer of breast [RCV001348861]|Hereditary cancer-predisposing syndrome [RCV000777679]|not provided [RCV003478481] | Chr22:28734541 [GRCh38] Chr22:29130529 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.67G>A (p.Gly23Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000777880] | Chr22:28734655 [GRCh38] Chr22:29130643 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005029427]|Familial cancer of breast [RCV000796811]|Hereditary cancer-predisposing syndrome [RCV000776734] | Chr22:28719396 [GRCh38] Chr22:29115384 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.156C>G (p.Ser52=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000777326] | Chr22:28734566 [GRCh38] Chr22:29130554 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val) | single nucleotide variant | Familial cancer of breast [RCV003607357]|Hereditary cancer-predisposing syndrome [RCV000777536] | Chr22:28695714 [GRCh38] Chr22:29091702 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+19G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000773359] | Chr22:28724958 [GRCh38] Chr22:29120946 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-18T>C | single nucleotide variant | Familial cancer of breast [RCV002061076]|Hereditary cancer-predisposing syndrome [RCV000773366] | Chr22:28719503 [GRCh38] Chr22:29115491 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-1G>C | single nucleotide variant | Familial cancer of breast [RCV000813820]|Hereditary cancer-predisposing syndrome [RCV001024696] | Chr22:28719486 [GRCh38] Chr22:29115474 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.839T>A (p.Leu280Gln) | single nucleotide variant | Familial cancer of breast [RCV000806053]|Hereditary cancer-predisposing syndrome [RCV005401619] | Chr22:28710013 [GRCh38] Chr22:29106001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687887)_(28710069_?)del | deletion | Familial cancer of breast [RCV000815269] | Chr22:28687887..28710069 [GRCh38] Chr22:29083875..29106057 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28709996)_(28710069_?)del | deletion | Familial cancer of breast [RCV000816633] | Chr22:28709996..28710069 [GRCh38] Chr22:29105984..29106057 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.444+3A>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000776834] | Chr22:28725240 [GRCh38] Chr22:29121228 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=) | single nucleotide variant | Familial cancer of breast [RCV000925078]|Hereditary cancer-predisposing syndrome [RCV002382095] | Chr22:28695209 [GRCh38] Chr22:29091197 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.396A>G (p.Arg132=) | single nucleotide variant | Familial cancer of breast [RCV001392732] | Chr22:28725291 [GRCh38] Chr22:29121279 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1462-5C>G | single nucleotide variant | Familial cancer of breast [RCV001491065]|Hereditary cancer-predisposing syndrome [RCV003353102] | Chr22:28689220 [GRCh38] Chr22:29085208 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.846+8T>G | single nucleotide variant | Familial cancer of breast [RCV000938960] | Chr22:28709998 [GRCh38] Chr22:29105986 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1462-5C>T | single nucleotide variant | Familial cancer of breast [RCV001422112]|Hereditary cancer-predisposing syndrome [RCV003363034] | Chr22:28689220 [GRCh38] Chr22:29085208 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.828T>C (p.Ile276=) | single nucleotide variant | Familial cancer of breast [RCV001488123] | Chr22:28710024 [GRCh38] Chr22:29106012 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.981T>C (p.Tyr327=) | single nucleotide variant | Breast and/or ovarian cancer [RCV001798999]|Familial cancer of breast [RCV001396570]|Hereditary cancer-predisposing syndrome [RCV002372445] | Chr22:28699865 [GRCh38] Chr22:29095853 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) | single nucleotide variant | Familial cancer of breast [RCV001855914]|Hereditary cancer-predisposing syndrome [RCV004027167]|not provided [RCV000759045] | Chr22:28719453 [GRCh38] Chr22:29115441 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=) | single nucleotide variant | Familial cancer of breast [RCV001468526]|Hereditary cancer-predisposing syndrome [RCV002391039] | Chr22:28699844 [GRCh38] Chr22:29095832 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=) | single nucleotide variant | Familial cancer of breast [RCV001445383]|Hereditary cancer-predisposing syndrome [RCV002416170] | Chr22:28696916 [GRCh38] Chr22:29092904 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1170C>T (p.Tyr390=) | single nucleotide variant | Familial cancer of breast [RCV001477812]|Hereditary cancer-predisposing syndrome [RCV002332906] | Chr22:28695799 [GRCh38] Chr22:29091787 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=) | single nucleotide variant | Familial cancer of breast [RCV001481919]|Hereditary cancer-predisposing syndrome [RCV003169426] | Chr22:28687984 [GRCh38] Chr22:29083972 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005036292]|Familial cancer of breast [RCV001873314]|Hereditary cancer-predisposing syndrome [RCV001018963] | Chr22:28699929 [GRCh38] Chr22:29095917 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+15T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000777426] | Chr22:28719380 [GRCh38] Chr22:29115368 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.320-1G>T | single nucleotide variant | Familial cancer of breast [RCV002535623]|Hereditary breast ovarian cancer syndrome [RCV003479217]|Hereditary cancer-predisposing syndrome [RCV000777567]|Malignant tumor of breast [RCV001355188] | Chr22:28725368 [GRCh38] Chr22:29121356 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del) | microsatellite | Familial cancer of breast [RCV003607352]|Hereditary cancer-predisposing syndrome [RCV000776216] | Chr22:28719454..28719456 [GRCh38] Chr22:29115442..29115444 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.104C>A (p.Ser35Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000773080] | Chr22:28734618 [GRCh38] Chr22:29130606 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His) | single nucleotide variant | Familial cancer of breast [RCV001236259]|Hereditary cancer-predisposing syndrome [RCV000773172]|Malignant tumor of breast [RCV001356114] | Chr22:28689147 [GRCh38] Chr22:29085135 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1259G>C (p.Cys420Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000773571] | Chr22:28695710 [GRCh38] Chr22:29091698 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe) | single nucleotide variant | Familial cancer of breast [RCV001321885]|Hereditary cancer-predisposing syndrome [RCV000774032] | Chr22:28734618 [GRCh38] Chr22:29130606 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg) | single nucleotide variant | Familial cancer of breast [RCV001856194]|Hereditary cancer-predisposing syndrome [RCV001011146]|not specified [RCV000781299] | Chr22:28695148 [GRCh38] Chr22:29091136 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-3C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV000777666] | Chr22:28687989 [GRCh38] Chr22:29083977 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-16C>A | single nucleotide variant | Familial cancer of breast [RCV002535628]|Hereditary cancer-predisposing syndrome [RCV000777670] | Chr22:28697003 [GRCh38] Chr22:29092991 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.708G>C (p.Leu236=) | single nucleotide variant | Familial cancer of breast [RCV001479623]|Hereditary cancer-predisposing syndrome [RCV001026024] | Chr22:28711993 [GRCh38] Chr22:29107981 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.438T>C (p.Ile146=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002332731]|not provided [RCV000827265] | Chr22:28725249 [GRCh38] Chr22:29121237 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.483A>C (p.Glu161Asp) | single nucleotide variant | Familial cancer of breast [RCV000820839]|Hereditary cancer-predisposing syndrome [RCV002332704] | Chr22:28725086 [GRCh38] Chr22:29121074 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+345G>A | single nucleotide variant | not provided [RCV000839395] | Chr22:28693687 [GRCh38] Chr22:29089675 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.40G>A (p.Gly14Ser) | single nucleotide variant | Familial cancer of breast [RCV000810195] | Chr22:28734682 [GRCh38] Chr22:29130670 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn) | single nucleotide variant | Familial cancer of breast [RCV000813061]|Hereditary cancer-predisposing syndrome [RCV001022030]|not provided [RCV001531541] | Chr22:28725268 [GRCh38] Chr22:29121256 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn) | single nucleotide variant | Familial cancer of breast [RCV000820980]|Hereditary cancer-predisposing syndrome [RCV002352454] | Chr22:28719471 [GRCh38] Chr22:29115459 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+286A>T | single nucleotide variant | not provided [RCV000839497] | Chr22:28741483 [GRCh38] Chr22:29137471 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.924G>A (p.Glu308=) | single nucleotide variant | Familial cancer of breast [RCV005093178]|Hereditary cancer-predisposing syndrome [RCV001019070] | Chr22:28699922 [GRCh38] Chr22:29095910 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.319+3A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019081] | Chr22:28734400 [GRCh38] Chr22:29130388 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.460A>T (p.Asn154Tyr) | single nucleotide variant | Familial cancer of breast [RCV000810053] | Chr22:28725109 [GRCh38] Chr22:29121097 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1241G>A (p.Gly414Glu) | single nucleotide variant | Familial cancer of breast [RCV000799388]|Hereditary cancer-predisposing syndrome [RCV001010503] | Chr22:28695728 [GRCh38] Chr22:29091716 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) | deletion | Familial cancer of breast [RCV000823211]|Hereditary cancer-predisposing syndrome [RCV002352469] | Chr22:28719472..28719473 [GRCh38] Chr22:29115460..29115461 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28687887)_(28696997_?)del | deletion | Familial cancer of breast [RCV000819221] | Chr22:28687887..28696997 [GRCh38] Chr22:29083875..29092985 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr) | single nucleotide variant | Familial cancer of breast [RCV000814378]|Hereditary cancer-predisposing syndrome [RCV004949978]|not provided [RCV001776029] | Chr22:28695713 [GRCh38] Chr22:29091701 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096A>G (p.Ile366Val) | single nucleotide variant | Familial cancer of breast [RCV000798277]|Hereditary cancer-predisposing syndrome [RCV002442644]|not provided [RCV004997336] | Chr22:28695873 [GRCh38] Chr22:29091861 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359539]|Familial cancer of breast [RCV000797030]|Hereditary cancer-predisposing syndrome [RCV001525051] | Chr22:28695764 [GRCh38] Chr22:29091752 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.449T>C (p.Val150Ala) | single nucleotide variant | Familial cancer of breast [RCV000799515]|Hereditary cancer-predisposing syndrome [RCV004027999] | Chr22:28725120 [GRCh38] Chr22:29121108 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1156G>A (p.Gly386Arg) | single nucleotide variant | Familial cancer of breast [RCV000804843]|Hereditary cancer-predisposing syndrome [RCV002352377]|not provided [RCV004721619] | Chr22:28695813 [GRCh38] Chr22:29091801 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.685G>T (p.Gly229Cys) | single nucleotide variant | Familial cancer of breast [RCV000823691] | Chr22:28712016 [GRCh38] Chr22:29108004 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593T>C (p.Val198Ala) | single nucleotide variant | Familial cancer of breast [RCV000823763] | Chr22:28719485 [GRCh38] Chr22:29115473 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1542+10T>C | single nucleotide variant | Familial cancer of breast [RCV001505436] | Chr22:28689125 [GRCh38] Chr22:29085113 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.420C>T (p.Ser140=) | single nucleotide variant | Familial cancer of breast [RCV000801334] | Chr22:28725267 [GRCh38] Chr22:29121255 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) | microsatellite | Familial cancer of breast [RCV000819549]|Familial cancer of breast [RCV002501133]|Hereditary cancer-predisposing syndrome [RCV004029011] | Chr22:28711947..28711949 [GRCh38] Chr22:29107935..29107937 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005036219]|Familial cancer of breast [RCV000821423]|Hereditary cancer-predisposing syndrome [RCV002442757] | Chr22:28734691 [GRCh38] Chr22:29130679 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) | single nucleotide variant | Familial cancer of breast [RCV001444174]|Hereditary cancer-predisposing syndrome [RCV004029208]|not provided [RCV000829060] | Chr22:28689150 [GRCh38] Chr22:29085138 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu) | single nucleotide variant | Familial cancer of breast [RCV002535842]|NK-cell enteropathy [RCV000791309] | Chr22:28694072 [GRCh38] Chr22:29090060 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1481A>G (p.Lys494Arg) | single nucleotide variant | Familial cancer of breast [RCV000806381] | Chr22:28689196 [GRCh38] Chr22:29085184 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.961G>A (p.Glu321Lys) | single nucleotide variant | Familial cancer of breast [RCV000799895]|Hereditary cancer-predisposing syndrome [RCV002370111] | Chr22:28699885 [GRCh38] Chr22:29095873 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr) | single nucleotide variant | Familial cancer of breast [RCV000805029]|Hereditary cancer-predisposing syndrome [RCV002381768]|not specified [RCV001193086] | Chr22:28695214 [GRCh38] Chr22:29091202 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1246A>T (p.Ile416Phe) | single nucleotide variant | Familial cancer of breast [RCV000824035] | Chr22:28695723 [GRCh38] Chr22:29091711 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+5G>C | single nucleotide variant | Familial cancer of breast [RCV000798931] | Chr22:28696896 [GRCh38] Chr22:29092884 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28699828)_(28699947_?)del | deletion | Familial cancer of breast [RCV000800661] | Chr22:28699828..28699947 [GRCh38] Chr22:29095816..29095935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1095+3A>T | single nucleotide variant | Familial cancer of breast [RCV000823419] | Chr22:28696898 [GRCh38] Chr22:29092886 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.191A>G (p.Glu64Gly) | single nucleotide variant | Familial cancer of breast [RCV000816408] | Chr22:28734531 [GRCh38] Chr22:29130519 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg) | single nucleotide variant | Familial cancer of breast [RCV000819815]|not provided [RCV002282381] | Chr22:28694033 [GRCh38] Chr22:29090021 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1 | copy number loss | not provided [RCV000997962] | Chr22:29092889..29096019 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1127G>A (p.Gly376Glu) | single nucleotide variant | Familial cancer of breast [RCV000798262] | Chr22:28695842 [GRCh38] Chr22:29091830 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1477A>G (p.Arg493Gly) | single nucleotide variant | Familial cancer of breast [RCV000801773] | Chr22:28689200 [GRCh38] Chr22:29085188 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs) | deletion | Familial cancer of breast [RCV000803491] | Chr22:28734637..28734644 [GRCh38] Chr22:29130625..29130632 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.793-1G>T | single nucleotide variant | Familial cancer of breast [RCV003467536]|Hereditary cancer-predisposing syndrome [RCV001026971]|not provided [RCV000985704] | Chr22:28710060 [GRCh38] Chr22:29106048 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1347del (p.Glu450fs) | deletion | Familial cancer of breast [RCV000800708] | Chr22:28695155 [GRCh38] Chr22:29091143 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1009-6G>A | single nucleotide variant | Familial cancer of breast [RCV001413134]|Malignant tumor of breast [RCV001356645] | Chr22:28696993 [GRCh38] Chr22:29092981 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NC_000022.10:g.(?_29095816)_(29095935_?)dup | duplication | Familial cancer of breast [RCV000803915] | Chr22:28699828..28699947 [GRCh38] Chr22:29095816..29095935 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1471A>C (p.Met491Leu) | single nucleotide variant | Familial cancer of breast [RCV000795159]|Hereditary cancer-predisposing syndrome [RCV003166127] | Chr22:28689206 [GRCh38] Chr22:29085194 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe) | single nucleotide variant | Familial cancer of breast [RCV000805588] | Chr22:28695710 [GRCh38] Chr22:29091698 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His) | single nucleotide variant | Familial cancer of breast [RCV000805589]|Hereditary cancer-predisposing syndrome [RCV002388516] | Chr22:28694032 [GRCh38] Chr22:29090020 [GRCh37] Chr22:22q12.1 |
pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.444+3A>C | single nucleotide variant | Familial cancer of breast [RCV000808577] | Chr22:28725240 [GRCh38] Chr22:29121228 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+2del | deletion | Familial cancer of breast [RCV000809809] | Chr22:28694030 [GRCh38] Chr22:29090018 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.515C>T (p.Thr172Ile) | single nucleotide variant | Familial cancer of breast [RCV000805663]|Hereditary cancer-predisposing syndrome [RCV001023637] | Chr22:28725054 [GRCh38] Chr22:29121042 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) | indel | Familial cancer of breast [RCV000805749] | Chr22:28695166..28695167 [GRCh38] Chr22:29091154..29091155 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.941del (p.Val314fs) | deletion | Familial cancer of breast [RCV000990388] | Chr22:28699905 [GRCh38] Chr22:29095893 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.444+9T>C | single nucleotide variant | Familial cancer of breast [RCV000990395] | Chr22:28725234 [GRCh38] Chr22:29121222 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+3851G>T | single nucleotide variant | Familial cancer of breast [RCV000990397] | Chr22:28730552 [GRCh38] Chr22:29126540 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.28741832T>A | single nucleotide variant | Familial cancer of breast [RCV000990402] | Chr22:28741832 [GRCh38] Chr22:29137820 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1049del (p.Pro350fs) | deletion | Familial cancer of breast [RCV000806057] | Chr22:28696947 [GRCh38] Chr22:29092935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1096A>T (p.Ile366Phe) | single nucleotide variant | Familial cancer of breast [RCV000799019]|Hereditary cancer-predisposing syndrome [RCV002424840] | Chr22:28695873 [GRCh38] Chr22:29091861 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.485A>T (p.Asp162Val) | single nucleotide variant | Familial cancer of breast [RCV000799067]|Hereditary cancer-predisposing syndrome [RCV002334508] | Chr22:28725084 [GRCh38] Chr22:29121072 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+163G>A | single nucleotide variant | not provided [RCV000837117] | Chr22:28696738 [GRCh38] Chr22:29092726 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1104T>A (p.Asp368Glu) | single nucleotide variant | Familial cancer of breast [RCV000820509] | Chr22:28695865 [GRCh38] Chr22:29091853 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.572T>C (p.Leu191Pro) | single nucleotide variant | Familial cancer of breast [RCV000804144]|Hereditary cancer-predisposing syndrome [RCV001024463] | Chr22:28724997 [GRCh38] Chr22:29120985 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1148C>T (p.Thr383Ile) | single nucleotide variant | Familial cancer of breast [RCV000805781]|Hereditary cancer-predisposing syndrome [RCV001017471] | Chr22:28695821 [GRCh38] Chr22:29091809 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter) | single nucleotide variant | Familial cancer of breast [RCV000805833]|Hereditary cancer-predisposing syndrome [RCV002381773] | Chr22:28695147 [GRCh38] Chr22:29091135 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.37C>A (p.His13Asn) | single nucleotide variant | Familial cancer of breast [RCV000792567]|Hereditary cancer-predisposing syndrome [RCV002352310] | Chr22:28734685 [GRCh38] Chr22:29130673 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.581G>A (p.Ser194Asn) | single nucleotide variant | Familial cancer of breast [RCV000813301] | Chr22:28724988 [GRCh38] Chr22:29120976 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.692G>T (p.Cys231Phe) | single nucleotide variant | Familial cancer of breast [RCV000796967]|Hereditary cancer-predisposing syndrome [RCV002360931] | Chr22:28712009 [GRCh38] Chr22:29107997 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.449del (p.Val150fs) | deletion | Familial cancer of breast [RCV000812025]|Hereditary cancer-predisposing syndrome [RCV001022581] | Chr22:28725120 [GRCh38] Chr22:29121108 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.252del (p.Glu84fs) | deletion | Familial cancer of breast [RCV000816534] | Chr22:28734470 [GRCh38] Chr22:29130458 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro) | single nucleotide variant | Familial cancer of breast [RCV000819526]|Hereditary cancer-predisposing syndrome [RCV004029009]|not provided [RCV004761822] | Chr22:28734412 [GRCh38] Chr22:29130400 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.623A>T (p.Asp208Val) | single nucleotide variant | Familial cancer of breast [RCV000799190] | Chr22:28719455 [GRCh38] Chr22:29115443 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-24_1263del | deletion | Familial cancer of breast [RCV000816723] | Chr22:28695239..28695266 [GRCh38] Chr22:29091227..29091254 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.428A>T (p.His143Leu) | single nucleotide variant | Familial cancer of breast [RCV000815964] | Chr22:28725259 [GRCh38] Chr22:29121247 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.208G>A (p.Glu70Lys) | single nucleotide variant | Familial cancer of breast [RCV000796215]|Hereditary cancer-predisposing syndrome [RCV003166133] | Chr22:28734514 [GRCh38] Chr22:29130502 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095G>A (p.Lys365=) | single nucleotide variant | Familial cancer of breast [RCV000799651] | Chr22:28696901 [GRCh38] Chr22:29092889 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1036C>A (p.Arg346Ser) | single nucleotide variant | Familial cancer of breast [RCV000799658]|Hereditary cancer-predisposing syndrome [RCV002388468] | Chr22:28696960 [GRCh38] Chr22:29092948 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.258G>T (p.Glu86Asp) | single nucleotide variant | Familial cancer of breast [RCV000820033]|Hereditary cancer-predisposing syndrome [RCV002427047] | Chr22:28734464 [GRCh38] Chr22:29130452 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1003G>T (p.Val335Leu) | single nucleotide variant | Familial cancer of breast [RCV000813005]|Hereditary cancer-predisposing syndrome [RCV002397681] | Chr22:28699843 [GRCh38] Chr22:29095831 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1056T>A (p.Asn352Lys) | single nucleotide variant | Familial cancer of breast [RCV000813125]|Hereditary cancer-predisposing syndrome [RCV001017158] | Chr22:28696940 [GRCh38] Chr22:29092928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.539G>C (p.Arg180Pro) | single nucleotide variant | Familial cancer of breast [RCV000803950] | Chr22:28725030 [GRCh38] Chr22:29121018 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.204T>C (p.Thr68=) | single nucleotide variant | Familial cancer of breast [RCV002067540]|Hereditary cancer-predisposing syndrome [RCV001014200]|not provided [RCV000841695] | Chr22:28734518 [GRCh38] Chr22:29130506 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser) | single nucleotide variant | Familial cancer of breast [RCV000813653] | Chr22:28695222 [GRCh38] Chr22:29091210 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.950A>G (p.Lys317Arg) | single nucleotide variant | Familial cancer of breast [RCV000797315]|Hereditary cancer-predisposing syndrome [RCV004027590] | Chr22:28699896 [GRCh38] Chr22:29095884 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.145T>C (p.Ser49Pro) | single nucleotide variant | Familial cancer of breast [RCV000807541]|Hereditary cancer-predisposing syndrome [RCV004028618] | Chr22:28734577 [GRCh38] Chr22:29130565 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+3774C>T | single nucleotide variant | not provided [RCV000839447] | Chr22:28730629 [GRCh38] Chr22:29126617 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1095G>T (p.Lys365Asn) | single nucleotide variant | Familial cancer of breast [RCV000801421]|Hereditary cancer-predisposing syndrome [RCV002458465] | Chr22:28696901 [GRCh38] Chr22:29092889 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.403A>G (p.Lys135Glu) | single nucleotide variant | Familial cancer of breast [RCV000814201] | Chr22:28725284 [GRCh38] Chr22:29121272 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096-6T>G | single nucleotide variant | Familial cancer of breast [RCV000801658]|Familial cancer of breast [RCV002495075]|Hereditary cancer-predisposing syndrome [RCV003584753]|not provided [RCV004696999] | Chr22:28695879 [GRCh38] Chr22:29091867 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.990del (p.Met331fs) | deletion | Familial cancer of breast [RCV000823638] | Chr22:28699856 [GRCh38] Chr22:29095844 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val) | single nucleotide variant | Familial cancer of breast [RCV000797913]|Hereditary cancer-predisposing syndrome [RCV004949918]|not provided [RCV003321739] | Chr22:28734429 [GRCh38] Chr22:29130417 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+1G>A | single nucleotide variant | Familial cancer of breast [RCV000806336]|Hereditary cancer-predisposing syndrome [RCV001180798] | Chr22:28695126 [GRCh38] Chr22:29091114 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.80A>G (p.Gln27Arg) | single nucleotide variant | Familial cancer of breast [RCV000802148]|Hereditary cancer-predisposing syndrome [RCV004028093] | Chr22:28734642 [GRCh38] Chr22:29130630 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.199T>G (p.Ser67Ala) | single nucleotide variant | Familial cancer of breast [RCV000802191]|Hereditary cancer-predisposing syndrome [RCV001013995] | Chr22:28734523 [GRCh38] Chr22:29130511 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687887)_(28687996_?)del | deletion | Familial cancer of breast [RCV000798161] | Chr22:28687887..28687996 [GRCh38] Chr22:29083875..29083984 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1095+5_1095+6del | deletion | Familial cancer of breast [RCV000798044] | Chr22:28696895..28696896 [GRCh38] Chr22:29092883..29092884 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.418A>G (p.Ser140Gly) | single nucleotide variant | Familial cancer of breast [RCV000808882] | Chr22:28725269 [GRCh38] Chr22:29121257 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile) | single nucleotide variant | Familial cancer of breast [RCV000792542]|Hereditary cancer-predisposing syndrome [RCV002386379]|not provided [RCV003144589] | Chr22:28711965 [GRCh38] Chr22:29107953 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q12.1(chr22:28730067-29099673)x1 | copy number loss | not provided [RCV000847487] | Chr22:28730067..29099673 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys) | single nucleotide variant | Familial cancer of breast [RCV000818986]|not provided [RCV003478520] | Chr22:28734496 [GRCh38] Chr22:29130484 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687887)_(28719495_?)del | deletion | Familial cancer of breast [RCV000803924] | Chr22:28687887..28719495 [GRCh38] Chr22:29083875..29115483 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter) | single nucleotide variant | Familial cancer of breast [RCV000815160]|Hereditary cancer-predisposing syndrome [RCV005251229] | Chr22:28719423 [GRCh38] Chr22:29115411 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.526G>T (p.Gly176Trp) | single nucleotide variant | Familial cancer of breast [RCV004570024]|Hereditary cancer-predisposing syndrome [RCV001023831] | Chr22:28725043 [GRCh38] Chr22:29121031 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1226A>G (p.Asp409Gly) | single nucleotide variant | Familial cancer of breast [RCV005093060]|Hereditary cancer-predisposing syndrome [RCV001010427] | Chr22:28695743 [GRCh38] Chr22:29091731 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.155C>A (p.Ser52Tyr) | single nucleotide variant | Familial cancer of breast [RCV000793433]|Hereditary cancer-predisposing syndrome [RCV003166104] | Chr22:28734567 [GRCh38] Chr22:29130555 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1472T>A (p.Met491Lys) | single nucleotide variant | Familial cancer of breast [RCV000811704] | Chr22:28689205 [GRCh38] Chr22:29085193 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile) | single nucleotide variant | Familial cancer of breast [RCV001216088]|Hereditary cancer-predisposing syndrome [RCV001010510]|not provided [RCV005429044]|not specified [RCV003230617] | Chr22:28695726 [GRCh38] Chr22:29091714 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NC_000022.11:g.(?_28709996)_(28725377_?)dup | duplication | Familial cancer of breast [RCV001031097] | Chr22:29105984..29121365 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28687887)_(28699947_?)del | deletion | Familial cancer of breast [RCV001031151] | Chr22:29083875..29095935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1508A>C (p.Asn503Thr) | single nucleotide variant | Familial cancer of breast [RCV001068058] | Chr22:28689169 [GRCh38] Chr22:29085157 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.954C>T (p.Arg318=) | single nucleotide variant | Familial cancer of breast [RCV001435771]|Hereditary cancer-predisposing syndrome [RCV001019479] | Chr22:28699892 [GRCh38] Chr22:29095880 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.269del (p.Pro90fs) | deletion | Familial cancer of breast [RCV000822473]|Hereditary cancer-predisposing syndrome [RCV001016347] | Chr22:28734453 [GRCh38] Chr22:29130441 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29083875)_(29099564_?)dup | duplication | Familial cancer of breast [RCV000809296] | Chr22:28687887..28703576 [GRCh38] Chr22:29083875..29099564 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser) | single nucleotide variant | Familial cancer of breast [RCV001860620]|Hereditary cancer-predisposing syndrome [RCV001009953]|not provided [RCV001836932] | Chr22:28695837 [GRCh38] Chr22:29091825 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1531G>A (p.Val511Ile) | single nucleotide variant | Familial cancer of breast [RCV000810648]|not provided [RCV004588278] | Chr22:28689146 [GRCh38] Chr22:29085134 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28719385)_(28719495_?)del | deletion | Familial cancer of breast [RCV000809988] | Chr22:28719385..28719495 [GRCh38] Chr22:29115373..29115483 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28695117)_(28696997_?)del | deletion | Familial cancer of breast [RCV000812007] | Chr22:28695117..28696997 [GRCh38] Chr22:29091105..29092985 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.320-3970_454del | deletion | Familial cancer of breast [RCV000823218] | Chr22:28725115..28729337 [GRCh38] Chr22:29121103..29125325 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.484G>A (p.Asp162Asn) | single nucleotide variant | Familial cancer of breast [RCV000794146] | Chr22:28725085 [GRCh38] Chr22:29121073 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.533G>T (p.Gly178Val) | single nucleotide variant | Familial cancer of breast [RCV000807182] | Chr22:28725036 [GRCh38] Chr22:29121024 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter) | single nucleotide variant | Familial cancer of breast [RCV000794492] | Chr22:28724994 [GRCh38] Chr22:29120982 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.593-2158_593-2152dup | duplication | Familial cancer of breast [RCV000990392] | Chr22:28721636..28721637 [GRCh38] Chr22:29117624..29117625 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1175C>A (p.Ala392Glu) | single nucleotide variant | Familial cancer of breast [RCV002549312]|Hereditary cancer-predisposing syndrome [RCV001010136] | Chr22:28695794 [GRCh38] Chr22:29091782 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser) | single nucleotide variant | Familial cancer of breast [RCV001359953]|Hereditary cancer-predisposing syndrome [RCV001010202] | Chr22:28695767 [GRCh38] Chr22:29091755 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs) | deletion | Familial cancer of breast [RCV000811241] | Chr22:28696962..28696977 [GRCh38] Chr22:29092950..29092965 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.358A>C (p.Ser120Arg) | single nucleotide variant | Familial cancer of breast [RCV000798318] | Chr22:28725329 [GRCh38] Chr22:29121317 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1054A>G (p.Asn352Asp) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359582]|Familial cancer of breast [RCV000814850]|Hereditary cancer-predisposing syndrome [RCV002406848] | Chr22:28696942 [GRCh38] Chr22:29092930 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1273C>T (p.Pro425Ser) | single nucleotide variant | Familial cancer of breast [RCV000821450]|Hereditary cancer-predisposing syndrome [RCV002372345] | Chr22:28695229 [GRCh38] Chr22:29091217 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+1G>T | single nucleotide variant | Familial cancer of breast [RCV000792964]|Hereditary cancer-predisposing syndrome [RCV002325499]|not provided [RCV000997892] | Chr22:28734402 [GRCh38] Chr22:29130390 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1325_1336del (p.Ser442_Tyr445del) | deletion | Familial cancer of breast [RCV000810552] | Chr22:28695166..28695177 [GRCh38] Chr22:29091154..29091165 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28694022)_(28734731_?)del | deletion | Familial cancer of breast [RCV000794139] | Chr22:28694022..28734731 [GRCh38] Chr22:29090010..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met) | single nucleotide variant | Familial cancer of breast [RCV003315496] | Chr22:28711997 [GRCh38] Chr22:29107985 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28711899)_(28712027_?)del | deletion | Familial cancer of breast [RCV000795447] | Chr22:28711899..28712027 [GRCh38] Chr22:29107887..29108015 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29099483)_(29099564_?)dup | duplication | Familial cancer of breast [RCV000798151] | Chr22:28703495..28703576 [GRCh38] Chr22:29099483..29099564 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28687887)_(28734731_?)del | deletion | Familial cancer of breast [RCV000798811] | Chr22:28687887..28734731 [GRCh38] Chr22:29083875..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del) | microsatellite | Familial cancer of breast [RCV000792203]|Hereditary cancer-predisposing syndrome [RCV001010450] | Chr22:28734597..28734599 [GRCh38] Chr22:29130585..29130587 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+27G>C | single nucleotide variant | not provided [RCV000829440] | Chr22:28741742 [GRCh38] Chr22:29137730 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg) | single nucleotide variant | Familial cancer of breast [RCV000813158]|Hereditary cancer-predisposing syndrome [RCV001188496] | Chr22:28725037 [GRCh38] Chr22:29121025 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.182G>T (p.Ser61Ile) | single nucleotide variant | Familial cancer of breast [RCV000799993]|Hereditary cancer-predisposing syndrome [RCV002406768] | Chr22:28734540 [GRCh38] Chr22:29130528 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+1G>A | single nucleotide variant | Familial cancer of breast [RCV000806398]|Hereditary cancer-predisposing syndrome [RCV002352383] | Chr22:28724976 [GRCh38] Chr22:29120964 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.652G>T (p.Asp218Tyr) | single nucleotide variant | Familial cancer of breast [RCV000792453] | Chr22:28719426 [GRCh38] Chr22:29115414 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.754A>G (p.Ser252Gly) | single nucleotide variant | Familial cancer of breast [RCV000800765]|Hereditary cancer-predisposing syndrome [RCV003166195] | Chr22:28711947 [GRCh38] Chr22:29107935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1316A>G (p.Gln439Arg) | single nucleotide variant | Familial cancer of breast [RCV000823080]|Hereditary cancer-predisposing syndrome [RCV002381875] | Chr22:28695186 [GRCh38] Chr22:29091174 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.181del (p.Ser61fs) | deletion | Familial cancer of breast [RCV000814575] | Chr22:28734541 [GRCh38] Chr22:29130529 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29130381)_(29130719_?)dup | duplication | Familial cancer of breast [RCV000807920] | Chr22:28734393..28734731 [GRCh38] Chr22:29130381..29130719 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter) | single nucleotide variant | Familial cancer of breast [RCV000823637] | Chr22:28725279 [GRCh38] Chr22:29121267 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro) | single nucleotide variant | Familial cancer of breast [RCV000823775]|Hereditary cancer-predisposing syndrome [RCV002319927] | Chr22:28734405 [GRCh38] Chr22:29130393 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593-79T>C | single nucleotide variant | not provided [RCV000835970] | Chr22:28719564 [GRCh38] Chr22:29115552 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.994C>T (p.Leu332Phe) | single nucleotide variant | Familial cancer of breast [RCV000801406]|Hereditary cancer-predisposing syndrome [RCV002386424] | Chr22:28699852 [GRCh38] Chr22:29095840 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.658T>A (p.Tyr220Asn) | single nucleotide variant | Familial cancer of breast [RCV000824119] | Chr22:28719420 [GRCh38] Chr22:29115408 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-5T>C | single nucleotide variant | Familial cancer of breast [RCV001067810] | Chr22:28695247 [GRCh38] Chr22:29091235 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NC_000022.11:g.(?_28719385)_(28734725_?)del | deletion | Familial cancer of breast [RCV001032217] | Chr22:29115373..29130713 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp) | single nucleotide variant | Familial cancer of breast [RCV001170064] | Chr22:28699922 [GRCh38] Chr22:29095910 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28694022)_(28699947_?)del | deletion | Familial cancer of breast [RCV001032702] | Chr22:29090010..29095935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.305del (p.Gly102fs) | deletion | Familial cancer of breast [RCV001044410] | Chr22:28734417 [GRCh38] Chr22:29130405 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser) | single nucleotide variant | Familial cancer of breast [RCV001044600]|Hereditary cancer-predisposing syndrome [RCV002320258] | Chr22:28734412 [GRCh38] Chr22:29130400 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.433C>G (p.Arg145Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001022317] | Chr22:28725254 [GRCh38] Chr22:29121242 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28695700)_(28703576_?)del | deletion | Familial cancer of breast [RCV001032394] | Chr22:29091688..29099564 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1159A>C (p.Thr387Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010043] | Chr22:28695810 [GRCh38] Chr22:29091798 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1190T>C (p.Val397Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010243] | Chr22:28695779 [GRCh38] Chr22:29091767 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1504del (p.Glu502fs) | deletion | Breast neoplasm [RCV000850310] | Chr22:28689173 [GRCh38] Chr22:29085161 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly) | single nucleotide variant | Familial cancer of breast [RCV000990398] | Chr22:28734604 [GRCh38] Chr22:29130592 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+4A>G | single nucleotide variant | Familial cancer of breast [RCV000990401] | Chr22:28741765 [GRCh38] Chr22:29137753 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.469_592+808del | deletion | Familial cancer of breast [RCV001065655] | Chr22:28724169..28725100 [GRCh38] Chr22:29120157..29121088 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.426A>G (p.Lys142=) | single nucleotide variant | Familial cancer of breast [RCV002067646]|Hereditary cancer-predisposing syndrome [RCV001022183] | Chr22:28725261 [GRCh38] Chr22:29121249 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.435G>T (p.Arg145=) | single nucleotide variant | Familial cancer of breast [RCV002067649]|Hereditary cancer-predisposing syndrome [RCV001022356] | Chr22:28725252 [GRCh38] Chr22:29121240 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.966_972dup (p.Lys325fs) | duplication | Hereditary cancer-predisposing syndrome [RCV001019612] | Chr22:28699873..28699874 [GRCh38] Chr22:29095861..29095862 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.337T>A (p.Tyr113Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001020144] | Chr22:28725350 [GRCh38] Chr22:29121338 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-7_694del | deletion | Familial cancer of breast [RCV002549652]|not provided [RCV000985703] | Chr22:28712007..28712024 [GRCh38] Chr22:29107995..29108012 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1337A>G (p.Asn446Ser) | single nucleotide variant | Familial cancer of breast [RCV001045771]|Hereditary cancer-predisposing syndrome [RCV002379525]|not provided [RCV004783887] | Chr22:28695165 [GRCh38] Chr22:29091153 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1193del (p.Ser398fs) | deletion | Familial cancer of breast [RCV001228230] | Chr22:28695776 [GRCh38] Chr22:29091764 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.109G>A (p.Gly37Ser) | single nucleotide variant | Familial cancer of breast [RCV001246601] | Chr22:28734613 [GRCh38] Chr22:29130601 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1325G>A (p.Ser442Asn) | single nucleotide variant | Familial cancer of breast [RCV001248390] | Chr22:28695177 [GRCh38] Chr22:29091165 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1069T>C (p.Ser357Pro) | single nucleotide variant | Familial cancer of breast [RCV001046026]|Hereditary cancer-predisposing syndrome [RCV004950160] | Chr22:28696927 [GRCh38] Chr22:29092915 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.776del (p.Gly259fs) | deletion | Familial cancer of breast [RCV001202837] | Chr22:28711925 [GRCh38] Chr22:29107913 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.(?_28696891)_(28696997_?)del | deletion | Familial cancer of breast [RCV001031771] | Chr22:29092879..29092985 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687887)_(28703576_?)del | deletion | Familial cancer of breast [RCV001031896] | Chr22:29083875..29099564 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.846+8T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001183631] | Chr22:28709998 [GRCh38] Chr22:29105986 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-55G>A | single nucleotide variant | Familial cancer of breast [RCV000990389] | Chr22:28719540 [GRCh38] Chr22:29115528 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.593-2089T>C | single nucleotide variant | Familial cancer of breast [RCV000990390] | Chr22:28721574 [GRCh38] Chr22:29117562 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.351G>A (p.Arg117=) | single nucleotide variant | Familial cancer of breast [RCV003500661]|Hereditary cancer-predisposing syndrome [RCV001184861] | Chr22:28725336 [GRCh38] Chr22:29121324 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+2T>A | single nucleotide variant | Familial cancer of breast [RCV003336319]|Hereditary cancer-predisposing syndrome [RCV001184885] | Chr22:28703503 [GRCh38] Chr22:29099491 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1375+17G>A | single nucleotide variant | Familial cancer of breast [RCV002068407]|Hereditary cancer-predisposing syndrome [RCV001185237] | Chr22:28695110 [GRCh38] Chr22:29091098 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.41G>A (p.Gly14Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001022038] | Chr22:28734681 [GRCh38] Chr22:29130669 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp) | deletion | Familial cancer of breast [RCV001230485] | Chr22:28695782..28695787 [GRCh38] Chr22:29091770..29091775 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu) | single nucleotide variant | Familial cancer of breast [RCV001209104] | Chr22:28699858 [GRCh38] Chr22:29095846 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1253T>C (p.Phe418Ser) | single nucleotide variant | Familial cancer of breast [RCV001230898] | Chr22:28695716 [GRCh38] Chr22:29091704 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1249C>T (p.Leu417Phe) | single nucleotide variant | Familial cancer of breast [RCV001215888]|Hereditary cancer-predisposing syndrome [RCV002402645] | Chr22:28695720 [GRCh38] Chr22:29091708 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.415T>A (p.Tyr139Asn) | single nucleotide variant | Familial cancer of breast [RCV001215963]|Hereditary cancer-predisposing syndrome [RCV004033984] | Chr22:28725272 [GRCh38] Chr22:29121260 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1062A>C (p.Leu354Phe) | single nucleotide variant | Familial cancer of breast [RCV001202856] | Chr22:28696934 [GRCh38] Chr22:29092922 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs) | indel | Familial cancer of breast [RCV001240346] | Chr22:28725329..28725349 [GRCh38] Chr22:29121317..29121337 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.152A>C (p.Gln51Pro) | single nucleotide variant | Familial cancer of breast [RCV001225853] | Chr22:28734570 [GRCh38] Chr22:29130558 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-2A>T | single nucleotide variant | Familial cancer of breast [RCV001243341] | Chr22:28712019 [GRCh38] Chr22:29108007 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.436A>G (p.Ile146Val) | single nucleotide variant | Familial cancer of breast [RCV001216964]|Hereditary cancer-predisposing syndrome [RCV004609668] | Chr22:28725251 [GRCh38] Chr22:29121239 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1264A>C (p.Ser422Arg) | single nucleotide variant | Familial cancer of breast [RCV001222813] | Chr22:28695238 [GRCh38] Chr22:29091226 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs) | insertion | Familial cancer of breast [RCV001233575] | Chr22:28703542..28703543 [GRCh38] Chr22:29099530..29099531 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.906del (p.Glu302fs) | deletion | Familial cancer of breast [RCV001224570] | Chr22:28703507 [GRCh38] Chr22:29099495 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly) | single nucleotide variant | Familial cancer of breast [RCV001238903] | Chr22:28687899 [GRCh38] Chr22:29083887 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.152A>G (p.Gln51Arg) | single nucleotide variant | Familial cancer of breast [RCV001205304]|Hereditary cancer-predisposing syndrome [RCV003163555] | Chr22:28734570 [GRCh38] Chr22:29130558 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.691T>C (p.Cys231Arg) | single nucleotide variant | Familial cancer of breast [RCV001239690]|Hereditary cancer-predisposing syndrome [RCV002366057] | Chr22:28712010 [GRCh38] Chr22:29107998 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.938del (p.Val313fs) | deletion | Familial cancer of breast [RCV001239350]|Hereditary cancer-predisposing syndrome [RCV004034610] | Chr22:28699908 [GRCh38] Chr22:29095896 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.622G>T (p.Asp208Tyr) | single nucleotide variant | Familial cancer of breast [RCV001241110]|Hereditary cancer-predisposing syndrome [RCV002366064] | Chr22:28719456 [GRCh38] Chr22:29115444 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter) | single nucleotide variant | Familial cancer of breast [RCV001226833] | Chr22:28695154 [GRCh38] Chr22:29091142 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr) | single nucleotide variant | Familial cancer of breast [RCV001209652]|Hereditary cancer-predisposing syndrome [RCV002348683] | Chr22:28734669 [GRCh38] Chr22:29130657 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg) | single nucleotide variant | Familial cancer of breast [RCV001227058]|Hereditary cancer-predisposing syndrome [RCV002258168] | Chr22:28695735 [GRCh38] Chr22:29091723 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.64del (p.His22fs) | deletion | Familial cancer of breast [RCV001227089]|Hereditary cancer-predisposing syndrome [RCV002366018] | Chr22:28734658 [GRCh38] Chr22:29130646 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1131G>C (p.Glu377Asp) | single nucleotide variant | Familial cancer of breast [RCV001227182] | Chr22:28695838 [GRCh38] Chr22:29091826 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.342G>C (p.Trp114Cys) | single nucleotide variant | Familial cancer of breast [RCV001234830] | Chr22:28725345 [GRCh38] Chr22:29121333 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.945del (p.Asn316fs) | deletion | Familial cancer of breast [RCV001234930] | Chr22:28699901 [GRCh38] Chr22:29095889 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.81G>C (p.Gln27His) | single nucleotide variant | Familial cancer of breast [RCV001221109] | Chr22:28734641 [GRCh38] Chr22:29130629 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.739G>A (p.Ala247Thr) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359962]|Familial cancer of breast [RCV001223627]|Hereditary cancer-predisposing syndrome [RCV002379845] | Chr22:28711962 [GRCh38] Chr22:29107950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1050del (p.Glu351fs) | deletion | Familial cancer of breast [RCV001235204] | Chr22:28696946 [GRCh38] Chr22:29092934 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) | deletion | Familial cancer of breast [RCV001221449]|Hereditary cancer-predisposing syndrome [RCV002402676] | Chr22:28687983 [GRCh38] Chr22:29083971 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1507A>G (p.Asn503Asp) | single nucleotide variant | Familial cancer of breast [RCV001214654]|Hereditary cancer-predisposing syndrome [RCV005318652] | Chr22:28689170 [GRCh38] Chr22:29085158 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer) | deletion | Familial cancer of breast [RCV001210302] | Chr22:28734536 [GRCh38] Chr22:29130524 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1007A>G (p.Gln336Arg) | single nucleotide variant | Familial cancer of breast [RCV001238439] | Chr22:28699839 [GRCh38] Chr22:29095827 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter) | duplication | Familial cancer of breast [RCV001218672] | Chr22:28725101..28725102 [GRCh38] Chr22:29121089..29121090 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) | single nucleotide variant | Familial cancer of breast [RCV001250441] | Chr22:28719479 [GRCh38] Chr22:29115467 [GRCh37] Chr22:22q12.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) | single nucleotide variant | Familial cancer of breast [RCV001226509]|Hereditary cancer-predisposing syndrome [RCV001180499] | Chr22:28696953 [GRCh38] Chr22:29092941 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.290_292delinsAGT (p.Trp97_Ala98delinsTer) | indel | Familial cancer of breast [RCV001240920] | Chr22:28734430..28734432 [GRCh38] Chr22:29130418..29130420 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1A>C (p.Met1Leu) | single nucleotide variant | Familial cancer of breast [RCV001219042] | Chr22:28734721 [GRCh38] Chr22:29130709 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1 | copy number loss | not provided [RCV000997961] | Chr22:29083885..29092975 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter) | single nucleotide variant | Familial cancer of breast [RCV001236386] | Chr22:28734624 [GRCh38] Chr22:29130612 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.299del (p.Gln100fs) | deletion | Familial cancer of breast [RCV003316942] | Chr22:28734423 [GRCh38] Chr22:29130411 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.11:g.28742014G>A | single nucleotide variant | Familial cancer of breast [RCV000990403] | Chr22:28742014 [GRCh38] Chr22:29138002 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) | single nucleotide variant | Familial cancer of breast [RCV001050856]|Hereditary cancer-predisposing syndrome [RCV001020289] | Chr22:28725345 [GRCh38] Chr22:29121333 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val) | single nucleotide variant | Familial cancer of breast [RCV002560843]|Hereditary cancer-predisposing syndrome [RCV001183604] | Chr22:28734696 [GRCh38] Chr22:29130684 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.281C>T (p.Ala94Val) | single nucleotide variant | Familial cancer of breast [RCV001212391] | Chr22:28734441 [GRCh38] Chr22:29130429 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.206A>T (p.Gln69Leu) | single nucleotide variant | Familial cancer of breast [RCV001246575]|Hereditary cancer-predisposing syndrome [RCV004034867] | Chr22:28734516 [GRCh38] Chr22:29130504 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28719385)_(28734731_?)del | deletion | Familial cancer of breast [RCV001032876] | Chr22:29115373..29130719 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1169A>T (p.Tyr390Phe) | single nucleotide variant | Familial cancer of breast [RCV001043388]|Hereditary cancer-predisposing syndrome [RCV003160306] | Chr22:28695800 [GRCh38] Chr22:29091788 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.935A>C (p.Lys312Thr) | single nucleotide variant | Familial cancer of breast [RCV001229953] | Chr22:28699911 [GRCh38] Chr22:29095899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1430C>G (p.Thr477Arg) | single nucleotide variant | Familial cancer of breast [RCV001247389] | Chr22:28694063 [GRCh38] Chr22:29090051 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.320-313C>T | single nucleotide variant | not provided [RCV001544719] | Chr22:28725680 [GRCh38] Chr22:29121668 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.592+279G>C | single nucleotide variant | not provided [RCV001547293] | Chr22:28724698 [GRCh38] Chr22:29120686 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909-275dup | duplication | not provided [RCV001551703] | Chr22:28700211..28700212 [GRCh38] Chr22:29096199..29096200 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-302T>A | single nucleotide variant | not provided [RCV001641415] | Chr22:28710361 [GRCh38] Chr22:29106349 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1095+250T>C | single nucleotide variant | not provided [RCV001684705] | Chr22:28696651 [GRCh38] Chr22:29092639 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.593-6_593-3del | deletion | Familial cancer of breast [RCV005094816]|Hereditary cancer-predisposing syndrome [RCV004946721]|not provided [RCV001577006] | Chr22:28719488..28719491 [GRCh38] Chr22:29115476..29115479 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.-7+2358G>A | single nucleotide variant | not provided [RCV001569547] | Chr22:28739411 [GRCh38] Chr22:29135399 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+3674_319+3676dup | duplication | not provided [RCV001592109] | Chr22:28730726..28730727 [GRCh38] Chr22:29126714..29126715 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys) | single nucleotide variant | Familial cancer of breast [RCV003607584]|Hereditary cancer-predisposing syndrome [RCV003293689] | Chr22:28696921 [GRCh38] Chr22:29092909 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1200del (p.Thr401fs) | deletion | Hereditary cancer-predisposing syndrome [RCV003293692] | Chr22:28695769 [GRCh38] Chr22:29091757 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1059_1060insA (p.Leu354fs) | insertion | Hereditary cancer-predisposing syndrome [RCV003293696] | Chr22:28696936..28696937 [GRCh38] Chr22:29092924..29092925 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.477C>T (p.Tyr159=) | single nucleotide variant | Familial cancer of breast [RCV000940064] | Chr22:28725092 [GRCh38] Chr22:29121080 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.792+7A>G | single nucleotide variant | Familial cancer of breast [RCV001500614]|not provided [RCV004997518] | Chr22:28711902 [GRCh38] Chr22:29107890 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1581C>A (p.Ala527=) | single nucleotide variant | Familial cancer of breast [RCV001484293]|Hereditary cancer-predisposing syndrome [RCV005401669] | Chr22:28687948 [GRCh38] Chr22:29083936 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.921A>C (p.Gly307=) | single nucleotide variant | Familial cancer of breast [RCV001454732] | Chr22:28699925 [GRCh38] Chr22:29095913 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.51C>T (p.Ala17=) | single nucleotide variant | Familial cancer of breast [RCV001438190] | Chr22:28734671 [GRCh38] Chr22:29130659 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1458T>G (p.Leu486=) | single nucleotide variant | Familial cancer of breast [RCV001501023] | Chr22:28694035 [GRCh38] Chr22:29090023 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.445-7A>G | single nucleotide variant | Familial cancer of breast [RCV001431082] | Chr22:28725131 [GRCh38] Chr22:29121119 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=) | single nucleotide variant | Familial cancer of breast [RCV001476054] | Chr22:28687942 [GRCh38] Chr22:29083930 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.684-10T>C | single nucleotide variant | Familial cancer of breast [RCV001466332]|Hereditary cancer-predisposing syndrome [RCV001525136] | Chr22:28712027 [GRCh38] Chr22:29108015 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=) | single nucleotide variant | Familial cancer of breast [RCV001394474]|Hereditary cancer-predisposing syndrome [RCV001010557] | Chr22:28695721 [GRCh38] Chr22:29091709 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.753C>T (p.Ile251=) | single nucleotide variant | Familial cancer of breast [RCV000932197]|Hereditary cancer-predisposing syndrome [RCV003380781]|Li-Fraumeni syndrome [RCV005367635] | Chr22:28711948 [GRCh38] Chr22:29107936 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1228T>C (p.Cys410Arg) | single nucleotide variant | Familial cancer of breast [RCV001203152] | Chr22:28695741 [GRCh38] Chr22:29091729 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.397del (p.Thr133fs) | deletion | Familial cancer of breast [RCV001070798] | Chr22:28725290 [GRCh38] Chr22:29121278 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1496T>C (p.Leu499Pro) | single nucleotide variant | Familial cancer of breast [RCV001218310] | Chr22:28689181 [GRCh38] Chr22:29085169 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) | single nucleotide variant | Familial cancer of breast [RCV001247249]|not provided [RCV003442813] | Chr22:28734424 [GRCh38] Chr22:29130412 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val) | single nucleotide variant | Familial cancer of breast [RCV001876072]|Hereditary cancer-predisposing syndrome [RCV001182834]|not specified [RCV002240778] | Chr22:28687907 [GRCh38] Chr22:29083895 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1361A>G (p.Glu454Gly) | single nucleotide variant | Familial cancer of breast [RCV001201613]|Hereditary cancer-predisposing syndrome [RCV003353203] | Chr22:28695141 [GRCh38] Chr22:29091129 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1079A>T (p.Glu360Val) | single nucleotide variant | Familial cancer of breast [RCV001071228] | Chr22:28696917 [GRCh38] Chr22:29092905 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs) | insertion | Familial cancer of breast [RCV001035444] | Chr22:28695758..28695759 [GRCh38] Chr22:29091746..29091747 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.875T>C (p.Phe292Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359939]|Familial cancer of breast [RCV001207680] | Chr22:28703538 [GRCh38] Chr22:29099526 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.320-18C>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001183395] | Chr22:28725385 [GRCh38] Chr22:29121373 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.298C>A (p.Gln100Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001183588] | Chr22:28734424 [GRCh38] Chr22:29130412 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6-8T>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001187657] | Chr22:28734735 [GRCh38] Chr22:29130723 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1118A>C (p.Lys373Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001187757] | Chr22:28695851 [GRCh38] Chr22:29091839 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.569C>G (p.Ala190Gly) | single nucleotide variant | Familial cancer of breast [RCV001226608] | Chr22:28725000 [GRCh38] Chr22:29120988 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr) | single nucleotide variant | Familial cancer of breast [RCV001205195]|Hereditary cancer-predisposing syndrome [RCV001187819] | Chr22:28734609 [GRCh38] Chr22:29130597 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.52T>G (p.Cys18Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001187827] | Chr22:28734670 [GRCh38] Chr22:29130658 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+17T>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001188008] | Chr22:28703488 [GRCh38] Chr22:29099476 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.362G>A (p.Cys121Tyr) | single nucleotide variant | Familial cancer of breast [RCV002549523]|Hereditary cancer-predisposing syndrome [RCV001020759] | Chr22:28725325 [GRCh38] Chr22:29121313 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.579A>G (p.Leu193=) | single nucleotide variant | Familial cancer of breast [RCV001417823]|Hereditary cancer-predisposing syndrome [RCV001188506] | Chr22:28724990 [GRCh38] Chr22:29120978 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs) | deletion | Familial cancer of breast [RCV001214520] | Chr22:28725020..28725026 [GRCh38] Chr22:29121008..29121014 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.606_607insSVAelement | insertion | Familial cancer of breast [RCV001089781] | Chr22:28719471..28719472 [GRCh38] Chr22:29115459..29115460 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro) | single nucleotide variant | Familial cancer of breast [RCV001208099] | Chr22:28696930 [GRCh38] Chr22:29092918 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs) | deletion | Familial cancer of breast [RCV001245023] | Chr22:28734506..28734513 [GRCh38] Chr22:29130494..29130501 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.775G>C (p.Gly259Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001188754] | Chr22:28711926 [GRCh38] Chr22:29107914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095G>C (p.Lys365Asn) | single nucleotide variant | Familial cancer of breast [RCV001219893]|Hereditary cancer-predisposing syndrome [RCV003363177] | Chr22:28696901 [GRCh38] Chr22:29092889 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1218T>G (p.Arg406=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001189114] | Chr22:28695751 [GRCh38] Chr22:29091739 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+6T>A | single nucleotide variant | Familial cancer of breast [RCV001223454] | Chr22:28694026 [GRCh38] Chr22:29090014 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1430del (p.Thr477fs) | deletion | Familial cancer of breast [RCV001223646] | Chr22:28694063 [GRCh38] Chr22:29090051 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1034A>C (p.His345Pro) | single nucleotide variant | Familial cancer of breast [RCV001245438]|Hereditary cancer-predisposing syndrome [RCV004034828] | Chr22:28696962 [GRCh38] Chr22:29092950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser) | single nucleotide variant | Familial cancer of breast [RCV003607413]|Hereditary cancer-predisposing syndrome [RCV001189330] | Chr22:28694082 [GRCh38] Chr22:29090070 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1247T>G (p.Ile416Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001189357] | Chr22:28695722 [GRCh38] Chr22:29091710 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.343T>G (p.Phe115Val) | single nucleotide variant | Familial cancer of breast [RCV001245540]|Hereditary cancer-predisposing syndrome [RCV003294144] | Chr22:28725344 [GRCh38] Chr22:29121332 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.194C>T (p.Thr65Ile) | single nucleotide variant | Familial cancer of breast [RCV005093904]|Hereditary cancer-predisposing syndrome [RCV001184842] | Chr22:28734528 [GRCh38] Chr22:29130516 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-13T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001177727] | Chr22:28695255 [GRCh38] Chr22:29091243 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.490A>C (p.Ser164Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001189608] | Chr22:28725079 [GRCh38] Chr22:29121067 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.752T>A (p.Ile251Asn) | single nucleotide variant | Familial cancer of breast [RCV001213761] | Chr22:28711949 [GRCh38] Chr22:29107937 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter) | single nucleotide variant | Familial cancer of breast [RCV001206015] | Chr22:28696929 [GRCh38] Chr22:29092917 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1236T>A (p.Ser412Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359898]|Hereditary cancer-predisposing syndrome [RCV001180965] | Chr22:28695733 [GRCh38] Chr22:29091721 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys) | single nucleotide variant | Familial cancer of breast [RCV001326928]|Hereditary cancer-predisposing syndrome [RCV001189846] | Chr22:28719473 [GRCh38] Chr22:29115461 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.769G>C (p.Ala257Pro) | single nucleotide variant | Familial cancer of breast [RCV001209201] | Chr22:28711932 [GRCh38] Chr22:29107920 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.989A>G (p.Gln330Arg) | single nucleotide variant | Familial cancer of breast [RCV001237564] | Chr22:28699857 [GRCh38] Chr22:29095845 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1058T>A (p.Val353Asp) | single nucleotide variant | Familial cancer of breast [RCV001227875] | Chr22:28696938 [GRCh38] Chr22:29092926 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+17T>C | single nucleotide variant | Familial cancer of breast [RCV001876063]|Hereditary cancer-predisposing syndrome [RCV001182603] | Chr22:28719378 [GRCh38] Chr22:29115366 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.994C>A (p.Leu332Ile) | single nucleotide variant | Familial cancer of breast [RCV001220755] | Chr22:28699852 [GRCh38] Chr22:29095840 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs) | deletion | Familial cancer of breast [RCV001224551] | Chr22:28710045..28710046 [GRCh38] Chr22:29106033..29106034 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.545C>G (p.Pro182Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005367674]|Hereditary breast ovarian cancer syndrome [RCV001030687] | Chr22:28725024 [GRCh38] Chr22:29121012 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu) | single nucleotide variant | Familial cancer of breast [RCV001875787]|Hereditary cancer-predisposing syndrome [RCV001175791]|not provided [RCV004773303] | Chr22:28724980 [GRCh38] Chr22:29120968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.260_261insCCAAGAGCCTGAGGA (p.Glu86_Glu87insAspGlnGluProGlu) | insertion | Familial cancer of breast [RCV005093765]|Hereditary cancer-predisposing syndrome [RCV001176255] | Chr22:28734461..28734462 [GRCh38] Chr22:29130449..29130450 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1163C>G (p.Pro388Arg) | single nucleotide variant | Familial cancer of breast [RCV001047870] | Chr22:28695806 [GRCh38] Chr22:29091794 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.870C>A (p.Asn290Lys) | single nucleotide variant | Familial cancer of breast [RCV001209602] | Chr22:28703543 [GRCh38] Chr22:29099531 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu) | single nucleotide variant | Familial cancer of breast [RCV001224872]|Hereditary cancer-predisposing syndrome [RCV002402703] | Chr22:28687922 [GRCh38] Chr22:29083910 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.12G>A (p.Glu4=) | single nucleotide variant | Familial cancer of breast [RCV002068230]|Hereditary cancer-predisposing syndrome [RCV001178921] | Chr22:28734710 [GRCh38] Chr22:29130698 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala) | single nucleotide variant | Familial cancer of breast [RCV001875921]|Hereditary cancer-predisposing syndrome [RCV001179048]|not provided [RCV004590138] | Chr22:28699908 [GRCh38] Chr22:29095896 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro) | single nucleotide variant | Familial cancer of breast [RCV002559105]|Hereditary cancer-predisposing syndrome [RCV001186375]|not provided [RCV004998696] | Chr22:28734636 [GRCh38] Chr22:29130624 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.217T>C (p.Ser73Pro) | single nucleotide variant | Familial cancer of breast [RCV001241281] | Chr22:28734505 [GRCh38] Chr22:29130493 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+20A>G | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001191396] | Chr22:28695107 [GRCh38] Chr22:29091095 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.276C>G (p.Pro92=) | single nucleotide variant | CHEK2-related disorder [RCV004538406]|Familial cancer of breast [RCV001489109]|Familial prostate cancer [RCV005367740]|Hereditary cancer-predisposing syndrome [RCV001177710] | Chr22:28734446 [GRCh38] Chr22:29130434 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.3G>C (p.Met1Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001179508] | Chr22:28734719 [GRCh38] Chr22:29130707 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser) | single nucleotide variant | Familial cancer of breast [RCV003607417]|Hereditary cancer-predisposing syndrome [RCV001192013] | Chr22:28725021 [GRCh38] Chr22:29121009 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.340T>C (p.Trp114Arg) | single nucleotide variant | Familial cancer of breast [RCV001235212]|Hereditary cancer-predisposing syndrome [RCV003166449] | Chr22:28725347 [GRCh38] Chr22:29121335 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.341G>T (p.Trp114Leu) | single nucleotide variant | Familial cancer of breast [RCV001206898]|Hereditary cancer-predisposing syndrome [RCV002451442]|not provided [RCV004726957] | Chr22:28725346 [GRCh38] Chr22:29121334 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.28712013CAC[1] | microsatellite | Familial cancer of breast [RCV001241792] | Chr22:28712013..28712015 [GRCh38] Chr22:29108001..29108003 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593-2151A>T | single nucleotide variant | Familial cancer of breast [RCV000990391] | Chr22:28721636 [GRCh38] Chr22:29117624 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.592+50A>C | single nucleotide variant | Familial cancer of breast [RCV000990394] | Chr22:28724927 [GRCh38] Chr22:29120915 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+78C>G | single nucleotide variant | not provided [RCV001665398] | Chr22:28695049 [GRCh38] Chr22:29091037 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.684-224T>C | single nucleotide variant | not provided [RCV001620018] | Chr22:28712241 [GRCh38] Chr22:29108229 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.319+4082_319+4086del | deletion | not provided [RCV001553532] | Chr22:28730317..28730321 [GRCh38] Chr22:29126305..29126309 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+138C>T | single nucleotide variant | not provided [RCV001576205] | Chr22:28709868 [GRCh38] Chr22:29105856 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1569T>G (p.Arg523=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258745] | Chr22:28687960 [GRCh38] Chr22:29083948 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.371G>A (p.Cys124Tyr) | single nucleotide variant | Familial cancer of breast [RCV005095913]|Hereditary cancer-predisposing syndrome [RCV002258747] | Chr22:28725316 [GRCh38] Chr22:29121304 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+5T>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258750] | Chr22:28724972 [GRCh38] Chr22:29120960 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu) | single nucleotide variant | Familial cancer of breast [RCV003500695]|Hereditary cancer-predisposing syndrome [RCV002258751] | Chr22:28719408 [GRCh38] Chr22:29115396 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.32A>G (p.Gln11Arg) | single nucleotide variant | Familial cancer of breast [RCV004572103]|Hereditary cancer-predisposing syndrome [RCV002259292] | Chr22:28734690 [GRCh38] Chr22:29130678 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-168G>A | single nucleotide variant | not provided [RCV001555373] | Chr22:28688154 [GRCh38] Chr22:29084142 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-33dup | duplication | not specified [RCV002466229] | Chr22:28710091..28710092 [GRCh38] Chr22:29106079..29106080 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.846+14T>C | single nucleotide variant | not specified [RCV002466228] | Chr22:28709992 [GRCh38] Chr22:29105980 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1199G>A (p.Gly400Glu) | single nucleotide variant | Familial cancer of breast [RCV001862763]|Hereditary cancer-predisposing syndrome [RCV001010254] | Chr22:28695770 [GRCh38] Chr22:29091758 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.518A>G (p.Glu173Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023686] | Chr22:28725051 [GRCh38] Chr22:29121039 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.463T>C (p.Ser155Pro) | single nucleotide variant | Familial cancer of breast [RCV001043313]|Hereditary cancer-predisposing syndrome [RCV001022830] | Chr22:28725106 [GRCh38] Chr22:29121094 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.103T>C (p.Ser35Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009772] | Chr22:28734619 [GRCh38] Chr22:29130607 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala) | single nucleotide variant | Familial cancer of breast [RCV001320914]|Hereditary cancer-predisposing syndrome [RCV001023443] | Chr22:28725067 [GRCh38] Chr22:29121055 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) | deletion | Familial cancer of breast [RCV003336226]|not provided [RCV001008187] | Chr22:28695827..28695836 [GRCh38] Chr22:29091815..29091824 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs) | deletion | Hereditary cancer-predisposing syndrome [RCV001010999]|not provided [RCV001008394] | Chr22:28695152..28695153 [GRCh38] Chr22:29091140..29091141 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1008+191del | deletion | not provided [RCV001639670] | Chr22:28699647 [GRCh38] Chr22:29095635 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) | deletion | Familial cancer of breast [RCV003467668]|Hereditary cancer-predisposing syndrome [RCV001022847] | Chr22:28725101..28725104 [GRCh38] Chr22:29121089..29121092 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr) | single nucleotide variant | Familial cancer of breast [RCV001537642]|Hereditary cancer-predisposing syndrome [RCV002386440]|not provided [RCV004546664] | Chr22:28711958 [GRCh38] Chr22:29107946 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-198C>T | single nucleotide variant | not provided [RCV001565155] | Chr22:28689413 [GRCh38] Chr22:29085401 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+225C>T | single nucleotide variant | not provided [RCV001643599] | Chr22:28694902 [GRCh38] Chr22:29090890 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.684-100_684-78dup | duplication | Hereditary breast ovarian cancer syndrome [RCV002225880]|not provided [RCV001620289] | Chr22:28712094..28712095 [GRCh38] Chr22:29108082..29108083 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.593-287G>T | single nucleotide variant | not provided [RCV001596399] | Chr22:28719772 [GRCh38] Chr22:29115760 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.-6-99dup | duplication | not provided [RCV001718045] | Chr22:28734825..28734826 [GRCh38] Chr22:29130813..29130814 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.925C>A (p.Leu309Met) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019092] | Chr22:28699921 [GRCh38] Chr22:29095909 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+2214C>T | single nucleotide variant | not provided [RCV001698612] | Chr22:28739555 [GRCh38] Chr22:29135543 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.793-127T>C | single nucleotide variant | not provided [RCV001654128] | Chr22:28710186 [GRCh38] Chr22:29106174 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.319+3621G>A | single nucleotide variant | not provided [RCV001677093] | Chr22:28730782 [GRCh38] Chr22:29126770 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.-6-99del | deletion | not provided [RCV001718080] | Chr22:28734826 [GRCh38] Chr22:29130814 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.847-200A>G | single nucleotide variant | not provided [RCV001718124] | Chr22:28703766 [GRCh38] Chr22:29099754 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.-7+62del | deletion | not provided [RCV001621120] | Chr22:28741707 [GRCh38] Chr22:29137695 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.319+4177C>T | single nucleotide variant | not provided [RCV001656568] | Chr22:28730226 [GRCh38] Chr22:29126214 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1375+347T>G | single nucleotide variant | not provided [RCV001594606] | Chr22:28694780 [GRCh38] Chr22:29090768 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) | indel | Familial cancer of breast [RCV001239033]|Hereditary cancer-predisposing syndrome [RCV001025922] | Chr22:28712001 [GRCh38] Chr22:29107989 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.171T>A (p.Ser57=) | single nucleotide variant | Familial cancer of breast [RCV005245608]|Hereditary cancer-predisposing syndrome [RCV001012868] | Chr22:28734551 [GRCh38] Chr22:29130539 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr) | single nucleotide variant | Familial cancer of breast [RCV002558952]|Hereditary cancer-predisposing syndrome [RCV001180416] | Chr22:28695827 [GRCh38] Chr22:29091815 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.96C>G (p.Ser32=) | single nucleotide variant | Familial cancer of breast [RCV002068980]|Hereditary breast ovarian cancer syndrome [RCV002225785]|Hereditary cancer-predisposing syndrome [RCV001019651] | Chr22:28734626 [GRCh38] Chr22:29130614 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1009T>C (p.Tyr337His) | single nucleotide variant | Familial cancer of breast [RCV001048515] | Chr22:28696987 [GRCh38] Chr22:29092975 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.420C>G (p.Ser140Arg) | single nucleotide variant | Familial cancer of breast [RCV001048698]|Hereditary cancer-predisposing syndrome [RCV004950167] | Chr22:28725267 [GRCh38] Chr22:29121255 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NG_008150.2:g.(27473_34849)_(43363_46929)dup | duplication | Familial cancer of breast [RCV001090197] | pathogenic | |
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val) | single nucleotide variant | Familial cancer of breast [RCV001090208] | Chr22:28710052 [GRCh38] Chr22:29106040 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter) | single nucleotide variant | Familial cancer of breast [RCV001055878]|Hereditary cancer-predisposing syndrome [RCV001026288] | Chr22:28711968 [GRCh38] Chr22:29107956 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.747G>C (p.Lys249Asn) | single nucleotide variant | Familial cancer of breast [RCV001873410]|Hereditary cancer-predisposing syndrome [RCV001026484] | Chr22:28711954 [GRCh38] Chr22:29107942 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.267C>T (p.Thr89=) | single nucleotide variant | Familial cancer of breast [RCV002559140]|Hereditary cancer-predisposing syndrome [RCV001187947] | Chr22:28734455 [GRCh38] Chr22:29130443 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.785G>A (p.Arg262Lys) | single nucleotide variant | Familial cancer of breast [RCV001862386]|Hereditary cancer-predisposing syndrome [RCV001026884] | Chr22:28711916 [GRCh38] Chr22:29107904 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.194C>A (p.Thr65Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001013717] | Chr22:28734528 [GRCh38] Chr22:29130516 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-8T>C | single nucleotide variant | Familial cancer of breast [RCV001442403]|Hereditary cancer-predisposing syndrome [RCV001185158]|not provided [RCV001249388] | Chr22:28699945 [GRCh38] Chr22:29095933 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance|not provided |
NM_007194.4(CHEK2):c.1162C>T (p.Pro388Ser) | single nucleotide variant | Familial cancer of breast [RCV002549309]|Hereditary cancer-predisposing syndrome [RCV001010058] | Chr22:28695807 [GRCh38] Chr22:29091795 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+16T>C | single nucleotide variant | Familial cancer of breast [RCV002560022]|Hereditary cancer-predisposing syndrome [RCV001188541] | Chr22:28703489 [GRCh38] Chr22:29099477 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr) | single nucleotide variant | Familial cancer of breast [RCV002560027]|Hereditary cancer-predisposing syndrome [RCV001188620] | Chr22:28711982 [GRCh38] Chr22:29107970 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly) | single nucleotide variant | Familial cancer of breast [RCV001228350]|Hereditary cancer-predisposing syndrome [RCV002259095] | Chr22:28725355 [GRCh38] Chr22:29121343 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.492T>G (p.Ser164Arg) | single nucleotide variant | Familial cancer of breast [RCV001862258]|Hereditary cancer-predisposing syndrome [RCV001023283] | Chr22:28725077 [GRCh38] Chr22:29121065 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.810T>C (p.Val270=) | single nucleotide variant | Familial cancer of breast [RCV002067709]|Hereditary cancer-predisposing syndrome [RCV001027190] | Chr22:28710042 [GRCh38] Chr22:29106030 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.793-17T>G | single nucleotide variant | Familial cancer of breast [RCV002559908]|Hereditary cancer-predisposing syndrome [RCV001185486] | Chr22:28710076 [GRCh38] Chr22:29106064 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) | single nucleotide variant | Familial cancer of breast [RCV001320784]|Hereditary cancer-predisposing syndrome [RCV004950302]|not provided [RCV002511053]|not specified [RCV001193087] | Chr22:28689187 [GRCh38] Chr22:29085175 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1174G>A (p.Ala392Thr) | single nucleotide variant | Familial cancer of breast [RCV001046278]|Hereditary cancer-predisposing syndrome [RCV001010132] | Chr22:28695795 [GRCh38] Chr22:29091783 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.100C>A (p.Gln34Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001189255] | Chr22:28734622 [GRCh38] Chr22:29130610 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp) | single nucleotide variant | Familial cancer of breast [RCV001049964] | Chr22:28687919 [GRCh38] Chr22:29083907 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.601T>C (p.Phe201Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001185857] | Chr22:28719477 [GRCh38] Chr22:29115465 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln) | single nucleotide variant | Familial cancer of breast [RCV001210909]|Hereditary cancer-predisposing syndrome [RCV001185888] | Chr22:28696979 [GRCh38] Chr22:29092967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1572del (p.Glu526fs) | deletion | Familial cancer of breast [RCV001071724]|Hereditary cancer-predisposing syndrome [RCV004950254] | Chr22:28687957 [GRCh38] Chr22:29083945 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) | single nucleotide variant | Familial cancer of breast [RCV001862769]|Hereditary cancer-predisposing syndrome [RCV001010468] | Chr22:28695736 [GRCh38] Chr22:29091724 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.207G>C (p.Gln69His) | single nucleotide variant | CHEK2-related disorder [RCV004738119]|Familial cancer of breast [RCV001047470]|Hereditary cancer-predisposing syndrome [RCV001014356]|not specified [RCV005236529] | Chr22:28734515 [GRCh38] Chr22:29130503 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=) | single nucleotide variant | Familial cancer of breast [RCV001445083]|Hereditary cancer-predisposing syndrome [RCV001189800] | Chr22:28687960 [GRCh38] Chr22:29083948 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.495_496delinsAT (p.Asn166Tyr) | indel | Familial cancer of breast [RCV001050452] | Chr22:28725073..28725074 [GRCh38] Chr22:29121061..29121062 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1250T>G (p.Leu417Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010543] | Chr22:28695719 [GRCh38] Chr22:29091707 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe) | single nucleotide variant | Familial cancer of breast [RCV001307419]|Hereditary cancer-predisposing syndrome [RCV001178926] | Chr22:28689185 [GRCh38] Chr22:29085173 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+19G>C | single nucleotide variant | Familial cancer of breast [RCV003500664]|Hereditary cancer-predisposing syndrome [RCV001185638] | Chr22:28696882 [GRCh38] Chr22:29092870 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.*48A>T | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414565] | Chr22:28687849 [GRCh38] Chr22:29083837 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.*26A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414566] | Chr22:28687871 [GRCh38] Chr22:29083859 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.566T>G (p.Ile189Ser) | single nucleotide variant | Familial cancer of breast [RCV001043647] | Chr22:28725003 [GRCh38] Chr22:29120991 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.699G>A (p.Glu233=) | single nucleotide variant | Familial cancer of breast [RCV002559929]|Hereditary cancer-predisposing syndrome [RCV001186348] | Chr22:28712002 [GRCh38] Chr22:29107990 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28724967)_(28734725_?)del | deletion | Familial cancer of breast [RCV001032514] | Chr22:29120955..29130713 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.802C>A (p.Leu268Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001181231] | Chr22:28710050 [GRCh38] Chr22:29106038 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-18G>A | single nucleotide variant | Familial cancer of breast [RCV002559756]|Hereditary cancer-predisposing syndrome [RCV001179141] | Chr22:28697005 [GRCh38] Chr22:29092993 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro) | single nucleotide variant | Familial cancer of breast [RCV003607411]|Hereditary cancer-predisposing syndrome [RCV001186517]|not provided [RCV004726933] | Chr22:28696932 [GRCh38] Chr22:29092920 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.256G>C (p.Glu86Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001175831] | Chr22:28734466 [GRCh38] Chr22:29130454 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.46A>G (p.Ser16Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001183420] | Chr22:28734676 [GRCh38] Chr22:29130664 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.794A>G (p.Asp265Gly) | single nucleotide variant | Familial cancer of breast [RCV001066714] | Chr22:28710058 [GRCh38] Chr22:29106046 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.729T>C (p.Cys243=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001181444] | Chr22:28711972 [GRCh38] Chr22:29107960 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.267C>G (p.Thr89=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001016308] | Chr22:28734455 [GRCh38] Chr22:29130443 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28687897)_(28734725_?)del | deletion | Familial cancer of breast [RCV001032859] | Chr22:29083885..29130713 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=) | single nucleotide variant | Familial cancer of breast [RCV005093766]|Hereditary cancer-predisposing syndrome [RCV001176468] | Chr22:28695846 [GRCh38] Chr22:29091834 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.134C>G (p.Thr45Arg) | single nucleotide variant | CHEK2-related disorder [RCV004528335]|Familial cancer of breast [RCV003500617]|Hereditary cancer-predisposing syndrome [RCV001011025] | Chr22:28734588 [GRCh38] Chr22:29130576 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414547]|Familial cancer of breast [RCV001038692]|Hereditary cancer-predisposing syndrome [RCV001011203] | Chr22:28734586 [GRCh38] Chr22:29130574 [GRCh37] Chr22:22q12.1 |
uncertain significance|not provided |
NM_007194.4(CHEK2):c.1048C>T (p.Pro350Ser) | single nucleotide variant | Familial cancer of breast [RCV002549448]|Hereditary cancer-predisposing syndrome [RCV001017075] | Chr22:28696948 [GRCh38] Chr22:29092936 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.169T>C (p.Ser57Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001179521] | Chr22:28734553 [GRCh38] Chr22:29130541 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1577A>G (p.Glu526Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001178561] | Chr22:28687952 [GRCh38] Chr22:29083940 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+18T>C | single nucleotide variant | Familial cancer of breast [RCV003106143]|Hereditary cancer-predisposing syndrome [RCV001187258] | Chr22:28724959 [GRCh38] Chr22:29120947 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1273C>G (p.Pro425Ala) | single nucleotide variant | Familial cancer of breast [RCV005057072]|Hereditary cancer-predisposing syndrome [RCV001192022] | Chr22:28695229 [GRCh38] Chr22:29091217 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+16G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001192029] | Chr22:28734387 [GRCh38] Chr22:29130375 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.(?_28687887)_(28725377_?)del | deletion | Familial cancer of breast [RCV001033122] | Chr22:29083875..29121365 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1444A>G (p.Arg482Gly) | single nucleotide variant | Familial cancer of breast [RCV005093078]|Hereditary cancer-predisposing syndrome [RCV001011614] | Chr22:28694049 [GRCh38] Chr22:29090037 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr) | single nucleotide variant | Familial cancer of breast [RCV001860855]|Hereditary cancer-predisposing syndrome [RCV001017150]|not specified [RCV003479265] | Chr22:28696942 [GRCh38] Chr22:29092930 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+5G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017263] | Chr22:28696896 [GRCh38] Chr22:29092884 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1143G>A (p.Met381Ile) | single nucleotide variant | Familial cancer of breast [RCV002550829]|Hereditary cancer-predisposing syndrome [RCV001017429] | Chr22:28695826 [GRCh38] Chr22:29091814 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.830T>G (p.Leu277Trp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017534]|not provided [RCV001766840] | Chr22:28710022 [GRCh38] Chr22:29106010 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) | deletion | Familial cancer of breast [RCV001875946]|Hereditary cancer-predisposing syndrome [RCV001179691] | Chr22:28689185 [GRCh38] Chr22:29085173 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln) | single nucleotide variant | Familial cancer of breast [RCV002558918]|Hereditary cancer-predisposing syndrome [RCV001179706] | Chr22:28725124 [GRCh38] Chr22:29121112 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+11G>A | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001182582] | Chr22:28696890 [GRCh38] Chr22:29092878 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.908+7A>T | single nucleotide variant | Familial cancer of breast [RCV001394239]|not specified [RCV001175505] | Chr22:28703498 [GRCh38] Chr22:29099486 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.444+1G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001192042] | Chr22:28725242 [GRCh38] Chr22:29121230 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28687897)_(28687996_?)del | deletion | Familial cancer of breast [RCV001032128] | Chr22:29083885..29083984 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28687897)_(28689225_?)del | deletion | Familial cancer of breast [RCV004583726] | Chr22:29083885..29085213 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(?_28719385)_(28725377_?)dup | duplication | Familial cancer of breast [RCV001033328] | Chr22:29115373..29121365 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1462-3C>G | single nucleotide variant | Familial cancer of breast [RCV001222234]|Hereditary cancer-predisposing syndrome [RCV001011697] | Chr22:28689218 [GRCh38] Chr22:29085206 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser) | single nucleotide variant | Familial cancer of breast [RCV001339942]|Hereditary cancer-predisposing syndrome [RCV001011719] | Chr22:28689198 [GRCh38] Chr22:29085186 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1480A>G (p.Lys494Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011802] | Chr22:28689197 [GRCh38] Chr22:29085185 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.844C>T (p.His282Tyr) | single nucleotide variant | Familial cancer of breast [RCV001301865]|Hereditary cancer-predisposing syndrome [RCV001017812] | Chr22:28710008 [GRCh38] Chr22:29105996 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+2T>C | single nucleotide variant | Familial cancer of breast [RCV002549464]|Hereditary cancer-predisposing syndrome [RCV001017844] | Chr22:28710004 [GRCh38] Chr22:29105992 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.299A>G (p.Gln100Arg) | single nucleotide variant | Familial cancer of breast [RCV002551803]|Hereditary cancer-predisposing syndrome [RCV001017874] | Chr22:28734423 [GRCh38] Chr22:29130411 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn) | single nucleotide variant | Familial cancer of breast [RCV001317503]|Hereditary cancer-predisposing syndrome [RCV001187026] | Chr22:28710059 [GRCh38] Chr22:29106047 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) | duplication | Familial cancer of breast [RCV002249759]|Hereditary cancer-predisposing syndrome [RCV001179811]|not provided [RCV003992458] | Chr22:28695841..28695842 [GRCh38] Chr22:29091829..29091830 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.909-1G>C | single nucleotide variant | Familial cancer of breast [RCV001378952]|Hereditary cancer-predisposing syndrome [RCV001175976] | Chr22:28699938 [GRCh38] Chr22:29095926 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr) | single nucleotide variant | Familial cancer of breast [RCV001299690]|Hereditary cancer-predisposing syndrome [RCV001025344]|not provided [RCV001776086] | Chr22:28734658 [GRCh38] Chr22:29130646 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu) | single nucleotide variant | Familial cancer of breast [RCV002549360]|Hereditary cancer-predisposing syndrome [RCV001012175] | Chr22:28687961 [GRCh38] Chr22:29083949 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1560G>A (p.Lys520=) | single nucleotide variant | Familial cancer of breast [RCV002549362]|Hereditary cancer-predisposing syndrome [RCV001012184]|not provided [RCV004761869] | Chr22:28687969 [GRCh38] Chr22:29083957 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg) | single nucleotide variant | Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004576977]|Familial cancer of breast [RCV001048735]|Hereditary cancer-predisposing syndrome [RCV001012218] | Chr22:28687956 [GRCh38] Chr22:29083944 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1580C>T (p.Ala527Val) | single nucleotide variant | Familial cancer of breast [RCV001212142]|Hereditary cancer-predisposing syndrome [RCV001012255] | Chr22:28687949 [GRCh38] Chr22:29083937 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp) | single nucleotide variant | Familial cancer of breast [RCV001059186]|Hereditary cancer-predisposing syndrome [RCV001018415] | Chr22:28703528 [GRCh38] Chr22:29099516 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.*10T>G | single nucleotide variant | Familial cancer of breast [RCV005245764]|Hereditary cancer-predisposing syndrome [RCV001187187] | Chr22:28687887 [GRCh38] Chr22:29083875 [GRCh37] Chr22:22q12.1 |
benign|uncertain significance |
NM_007194.4(CHEK2):c.655_659del (p.Glu219fs) | deletion | Hereditary cancer-predisposing syndrome [RCV001175711] | Chr22:28719419..28719423 [GRCh38] Chr22:29115407..29115411 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe) | single nucleotide variant | Familial cancer of breast [RCV001875783]|Hereditary cancer-predisposing syndrome [RCV001175728] | Chr22:28725251 [GRCh38] Chr22:29121239 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg) | single nucleotide variant | Familial cancer of breast [RCV001873395]|Hereditary cancer-predisposing syndrome [RCV001025663]|not provided [RCV001759713] | Chr22:28719399 [GRCh38] Chr22:29115387 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-1G>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001025718] | Chr22:28712018 [GRCh38] Chr22:29108006 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp) | single nucleotide variant | Familial cancer of breast [RCV001862342]|Hereditary cancer-predisposing syndrome [RCV001025783] | Chr22:28734654 [GRCh38] Chr22:29130642 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) | single nucleotide variant | Familial cancer of breast [RCV003336269]|Hereditary cancer-predisposing syndrome [RCV001025875] | Chr22:28712004 [GRCh38] Chr22:29107992 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly) | single nucleotide variant | Familial cancer of breast [RCV002551942]|Hereditary cancer-predisposing syndrome [RCV001025883]|not provided [RCV001759714] | Chr22:28712003 [GRCh38] Chr22:29107991 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.900T>G (p.Val300=) | single nucleotide variant | Familial cancer of breast [RCV003607381]|Hereditary cancer-predisposing syndrome [RCV001018638] | Chr22:28703513 [GRCh38] Chr22:29099501 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909G>T (p.Leu303Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018847] | Chr22:28699937 [GRCh38] Chr22:29095925 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.319+91G>A | single nucleotide variant | not provided [RCV001714536] | Chr22:28734312 [GRCh38] Chr22:29130300 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1096-394G>C | single nucleotide variant | not provided [RCV001575276] | Chr22:28696267 [GRCh38] Chr22:29092255 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.183del (p.Ser62fs) | deletion | Familial cancer of breast [RCV001071257] | Chr22:28734539 [GRCh38] Chr22:29130527 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.592+17A>G | single nucleotide variant | Familial cancer of breast [RCV002067921]|Hereditary cancer-predisposing syndrome [RCV001181663] | Chr22:28724960 [GRCh38] Chr22:29120948 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-7+11T>A | single nucleotide variant | not provided [RCV001713170] | Chr22:28741758 [GRCh38] Chr22:29137746 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.792+325C>G | single nucleotide variant | not provided [RCV001616906] | Chr22:28711584 [GRCh38] Chr22:29107572 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1134C>G (p.Thr378=) | single nucleotide variant | Familial cancer of breast [RCV005249464]|Hereditary cancer-predisposing syndrome [RCV001009965] | Chr22:28695835 [GRCh38] Chr22:29091823 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NC_000022.10:g.(?_29083885)_(29621477_?)del | deletion | Familial cancer of breast [RCV001033041] | Chr22:29083885..29621477 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NC_000022.10:g.(?_29083875)_(30090801_?)del | deletion | Familial cancer of breast [RCV001033149] | Chr22:29083875..30090801 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NM_007194.4(CHEK2):c.945dup (p.Asn316fs) | duplication | Hereditary cancer-predisposing syndrome [RCV001181895] | Chr22:28699900..28699901 [GRCh38] Chr22:29095888..29095889 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.592+168T>C | single nucleotide variant | not provided [RCV001714594] | Chr22:28724809 [GRCh38] Chr22:29120797 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu) | single nucleotide variant | Familial cancer of breast [RCV001047591] | Chr22:28687917 [GRCh38] Chr22:29083905 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.701_720del (p.Val234fs) | deletion | Breast carcinoma [RCV001648489] | Chr22:28711981..28712000 [GRCh38] Chr22:29107969..29107988 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1236T>G (p.Ser412Arg) | single nucleotide variant | Familial cancer of breast [RCV001229098]|Hereditary cancer-predisposing syndrome [RCV001010484] | Chr22:28695733 [GRCh38] Chr22:29091721 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.488A>G (p.His163Arg) | single nucleotide variant | Familial cancer of breast [RCV001048040]|Hereditary cancer-predisposing syndrome [RCV001190868]|not specified [RCV002307664] | Chr22:28725081 [GRCh38] Chr22:29121069 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.549G>A (p.Leu183=) | single nucleotide variant | Familial cancer of breast [RCV005093244]|Hereditary cancer-predisposing syndrome [RCV001024177] | Chr22:28725020 [GRCh38] Chr22:29121008 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
Single allele | insertion | Familial cancer of breast [RCV001089844] | Chr22:22q12.1 | pathogenic |
NM_007194.4(CHEK2):c.684-107T>G | single nucleotide variant | Hereditary breast ovarian cancer syndrome [RCV002225874]|not provided [RCV001611611] | Chr22:28712124 [GRCh38] Chr22:29108112 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.537del (p.Lys179fs) | deletion | Familial cancer of breast [RCV001036373] | Chr22:28725032 [GRCh38] Chr22:29121020 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1376-258C>T | single nucleotide variant | not provided [RCV001669637] | Chr22:28694375 [GRCh38] Chr22:28694375..28694376 [GRCh38] Chr22:29090363 [GRCh37] Chr22:29090363..29090364 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.922G>C (p.Glu308Gln) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001019056] | Chr22:28699924 [GRCh38] Chr22:29095912 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1018G>A (p.Glu340Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001009687] | Chr22:28696978 [GRCh38] Chr22:29092966 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28709996)_(28712027_?)dup | duplication | Familial cancer of breast [RCV001031308] | Chr22:29105984..29108015 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1259+3A>C | single nucleotide variant | Familial cancer of breast [RCV001045740] | Chr22:28695707 [GRCh38] Chr22:29091695 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.315T>G (p.Asn105Lys) | single nucleotide variant | Familial cancer of breast [RCV001070499] | Chr22:28734407 [GRCh38] Chr22:29130395 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462-97_1462-96insC | insertion | not provided [RCV001613710] | Chr22:28689311..28689312 [GRCh38] Chr22:29085299..29085300 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.274C>A (p.Pro92Thr) | single nucleotide variant | Familial cancer of breast [RCV001070634]|Hereditary cancer-predisposing syndrome [RCV003283957] | Chr22:28734448 [GRCh38] Chr22:29130436 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1008+4A>G | single nucleotide variant | Familial cancer of breast [RCV001343929]|Hereditary cancer-predisposing syndrome [RCV001180951] | Chr22:28699834 [GRCh38] Chr22:29095822 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.928T>G (p.Phe310Val) | single nucleotide variant | Familial cancer of breast [RCV001207273]|Hereditary cancer-predisposing syndrome [RCV002375145] | Chr22:28699918 [GRCh38] Chr22:29095906 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.431T>A (p.Phe144Tyr) | single nucleotide variant | Familial cancer of breast [RCV001235567]|Hereditary cancer-predisposing syndrome [RCV005318677] | Chr22:28725256 [GRCh38] Chr22:29121244 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.410G>T (p.Arg137Leu) | single nucleotide variant | Familial cancer of breast [RCV001218661] | Chr22:28725277 [GRCh38] Chr22:29121265 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu) | single nucleotide variant | Familial cancer of breast [RCV001041566]|Hereditary cancer-predisposing syndrome [RCV003584804]|Hereditary nonpolyposis colon cancer [RCV005359805] | Chr22:28694079 [GRCh38] Chr22:29090067 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375+7A>G | single nucleotide variant | Familial cancer of breast [RCV001041578] | Chr22:28695120 [GRCh38] Chr22:29091108 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys) | single nucleotide variant | Familial cancer of breast [RCV001058285]|Hereditary cancer-predisposing syndrome [RCV001026906] | Chr22:28711914 [GRCh38] Chr22:29107902 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359788]|Familial cancer of breast [RCV001060836]|Hereditary cancer-predisposing syndrome [RCV001026945] | Chr22:28711911 [GRCh38] Chr22:29107899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.361T>C (p.Cys121Arg) | single nucleotide variant | Familial cancer of breast [RCV001212436] | Chr22:28725326 [GRCh38] Chr22:29121314 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1277C>T (p.Pro426Leu) | single nucleotide variant | Familial cancer of breast [RCV001068860]|Hereditary cancer-predisposing syndrome [RCV002374987] | Chr22:28695225 [GRCh38] Chr22:29091213 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.495C>T (p.Gly165=) | single nucleotide variant | Familial cancer of breast [RCV001234809]|Hereditary cancer-predisposing syndrome [RCV003166444] | Chr22:28725074 [GRCh38] Chr22:29121062 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.473C>G (p.Ala158Gly) | single nucleotide variant | Familial cancer of breast [RCV001218796] | Chr22:28725096 [GRCh38] Chr22:29121084 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.716A>G (p.Glu239Gly) | single nucleotide variant | Familial cancer of breast [RCV001217510]|Hereditary cancer-predisposing syndrome [RCV003584850] | Chr22:28711985 [GRCh38] Chr22:29107973 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.451G>A (p.Gly151Ser) | single nucleotide variant | Familial cancer of breast [RCV001237132]|Hereditary cancer-predisposing syndrome [RCV002339655] | Chr22:28725118 [GRCh38] Chr22:29121106 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.826A>G (p.Ile276Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001027343] | Chr22:28710026 [GRCh38] Chr22:29106014 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.653A>G (p.Asp218Gly) | single nucleotide variant | Familial cancer of breast [RCV001235937] | Chr22:28719425 [GRCh38] Chr22:29115413 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1163C>T (p.Pro388Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001010063] | Chr22:28695806 [GRCh38] Chr22:29091794 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1215C>T (p.Asn405=) | single nucleotide variant | Familial cancer of breast [RCV003500615]|Hereditary cancer-predisposing syndrome [RCV001010332] | Chr22:28695754 [GRCh38] Chr22:29091742 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) | duplication | Familial cancer of breast [RCV001205283]|Hereditary cancer-predisposing syndrome [RCV002379777] | Chr22:28695211..28695212 [GRCh38] Chr22:29091199..29091200 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile) | single nucleotide variant | Familial cancer of breast [RCV001216454]|Hereditary cancer-predisposing syndrome [RCV002356921] | Chr22:28724977 [GRCh38] Chr22:29120965 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1411C>A (p.Pro471Thr) | single nucleotide variant | Familial cancer of breast [RCV001212703] | Chr22:28694082 [GRCh38] Chr22:29090070 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs) | microsatellite | Familial cancer of breast [RCV001213522] | Chr22:28710048..28710049 [GRCh38] Chr22:29106036..29106037 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs) | duplication | Familial cancer of breast [RCV001057755] | Chr22:28695850..28695851 [GRCh38] Chr22:29091838..29091839 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys) | single nucleotide variant | Familial cancer of breast [RCV001057805]|Hereditary cancer-predisposing syndrome [RCV002400330] | Chr22:28734552 [GRCh38] Chr22:29130540 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1034A>G (p.His345Arg) | single nucleotide variant | Familial cancer of breast [RCV001061568]|Hereditary cancer-predisposing syndrome [RCV003160497] | Chr22:28696962 [GRCh38] Chr22:29092950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1284T>G (p.Ser428=) | single nucleotide variant | Familial cancer of breast [RCV005249475]|Hereditary cancer-predisposing syndrome [RCV001010752] | Chr22:28695218 [GRCh38] Chr22:29091206 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-39C>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005414567] | Chr22:28741801 [GRCh38] Chr22:29137789 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.551A>G (p.Asn184Ser) | single nucleotide variant | Familial cancer of breast [RCV003607390]|Hereditary cancer-predisposing syndrome [RCV001024212] | Chr22:28725018 [GRCh38] Chr22:29121006 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.963del (p.Ala322fs) | deletion | Familial cancer of breast [RCV001233990]|Hereditary cancer-predisposing syndrome [RCV002379891] | Chr22:28699883 [GRCh38] Chr22:29095871 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu) | single nucleotide variant | Familial cancer of breast [RCV001294341]|Hereditary cancer-predisposing syndrome [RCV001181297] | Chr22:28719424 [GRCh38] Chr22:29115412 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005367694]|Familial cancer of breast [RCV001058130]|Hereditary cancer-predisposing syndrome [RCV003380827]|not provided [RCV001593232] | Chr22:28719398 [GRCh38] Chr22:29115386 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) | deletion | Familial cancer of breast [RCV001385373]|Hereditary cancer-predisposing syndrome [RCV001010972] | Chr22:28695158 [GRCh38] Chr22:29091146 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.567T>C (p.Ile189=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024402] | Chr22:28725002 [GRCh38] Chr22:29120990 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys) | indel | Hereditary cancer-predisposing syndrome [RCV001024404] | Chr22:28725000..28725001 [GRCh38] Chr22:29120988..29120989 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter) | duplication | Familial cancer of breast [RCV001860659]|Hereditary cancer-predisposing syndrome [RCV001011109] | Chr22:28695167..28695168 [GRCh38] Chr22:29091155..29091156 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1375+1G>C | single nucleotide variant | Familial cancer of breast [RCV001035082]|Hereditary cancer-predisposing syndrome [RCV001011222] | Chr22:28695126 [GRCh38] Chr22:29091114 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1376-3T>C | single nucleotide variant | Familial cancer of breast [RCV005093069]|Hereditary cancer-predisposing syndrome [RCV001011226] | Chr22:28694120 [GRCh38] Chr22:29090108 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.211C>T (p.Leu71Phe) | single nucleotide variant | Familial cancer of breast [RCV001219213]|Hereditary cancer-predisposing syndrome [RCV002418753] | Chr22:28734511 [GRCh38] Chr22:29130499 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687897)_(28734725_?)dup | duplication | Familial cancer of breast [RCV001033012] | Chr22:29083885..29130713 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.948del (p.Asn316fs) | deletion | Familial cancer of breast [RCV001051734] | Chr22:28699898 [GRCh38] Chr22:29095886 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1354T>G (p.Trp452Gly) | single nucleotide variant | Familial cancer of breast [RCV001233355] | Chr22:28695148 [GRCh38] Chr22:29091136 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+1G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024686] | Chr22:28724976 [GRCh38] Chr22:29120964 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=) | single nucleotide variant | Familial cancer of breast [RCV002551741]|Hereditary cancer-predisposing syndrome [RCV001011320] | Chr22:28694098 [GRCh38] Chr22:29090086 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011358] | Chr22:28694096 [GRCh38] Chr22:29090084 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.13T>C (p.Ser5Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011376] | Chr22:28734709 [GRCh38] Chr22:29130697 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=) | single nucleotide variant | Familial cancer of breast [RCV003607369]|Hereditary cancer-predisposing syndrome [RCV001011484]|not provided [RCV004998531] | Chr22:28694068 [GRCh38] Chr22:29090056 [GRCh37] Chr22:22q12.1 |
benign|likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1464T>C (p.Asp488=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011525] | Chr22:28689213 [GRCh38] Chr22:29085201 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile) | single nucleotide variant | CHEK2-related disorder [RCV004545107]|Familial cancer of breast [RCV002559024]|Hereditary cancer-predisposing syndrome [RCV001182382] | Chr22:28703542 [GRCh38] Chr22:29099530 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792+2T>G | single nucleotide variant | Familial cancer of breast [RCV001215075]|Hereditary cancer-predisposing syndrome [RCV004950355] | Chr22:28711907 [GRCh38] Chr22:29107895 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.902T>C (p.Leu301Ser) | single nucleotide variant | Familial cancer of breast [RCV001206087]|Hereditary cancer-predisposing syndrome [RCV005318644] | Chr22:28703511 [GRCh38] Chr22:29099499 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.761G>A (p.Arg254Lys) | single nucleotide variant | Familial cancer of breast [RCV001248253] | Chr22:28711940 [GRCh38] Chr22:29107928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) | deletion | Familial cancer of breast [RCV001217885]|Hereditary cancer-predisposing syndrome [RCV004034048] | Chr22:28694093 [GRCh38] Chr22:29090081 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=) | single nucleotide variant | Familial cancer of breast [RCV003607407]|Hereditary cancer-predisposing syndrome [RCV001180651] | Chr22:28695820 [GRCh38] Chr22:29091808 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.352G>T (p.Asp118Tyr) | single nucleotide variant | Familial cancer of breast [RCV001047768] | Chr22:28725335 [GRCh38] Chr22:29121323 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.989del (p.Gln330fs) | deletion | Familial cancer of breast [RCV001058838] | Chr22:28699857 [GRCh38] Chr22:29095845 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) | duplication | Familial cancer of breast [RCV002551747]|Hereditary breast ovarian cancer syndrome [RCV001030620]|Hereditary cancer-predisposing syndrome [RCV001011667] | Chr22:28694037..28694038 [GRCh38] Chr22:29090025..29090026 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1482G>T (p.Lys494Asn) | single nucleotide variant | Familial cancer of breast [RCV001059466]|Hereditary cancer-predisposing syndrome [RCV001011815] | Chr22:28689195 [GRCh38] Chr22:29085183 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+4A>T | single nucleotide variant | Familial cancer of breast [RCV001232538] | Chr22:28724973 [GRCh38] Chr22:29120961 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1385T>C (p.Leu462Pro) | single nucleotide variant | Familial cancer of breast [RCV001218106] | Chr22:28694108 [GRCh38] Chr22:29090096 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1168T>A (p.Tyr390Asn) | single nucleotide variant | Familial cancer of breast [RCV001232222]|Hereditary cancer-predisposing syndrome [RCV002327556] | Chr22:28695801 [GRCh38] Chr22:29091789 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.44G>T (p.Ser15Ile) | single nucleotide variant | Familial cancer of breast [RCV001232288] | Chr22:28734678 [GRCh38] Chr22:29130666 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.496A>C (p.Asn166His) | single nucleotide variant | Familial cancer of breast [RCV001203911] | Chr22:28725073 [GRCh38] Chr22:29121061 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28687887)_(28699947_?)dup | duplication | Familial cancer of breast [RCV001033584] | Chr22:29083875..29095935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.154T>A (p.Ser52Thr) | single nucleotide variant | Familial cancer of breast [RCV001058867] | Chr22:28734568 [GRCh38] Chr22:29130556 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter) | single nucleotide variant | Familial cancer of breast [RCV001233646] | Chr22:28719442 [GRCh38] Chr22:29115430 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1502A>T (p.Glu501Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011922] | Chr22:28689175 [GRCh38] Chr22:29085163 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1503G>T (p.Glu501Asp) | single nucleotide variant | Familial cancer of breast [RCV003769449]|Hereditary cancer-predisposing syndrome [RCV001011932]|not specified [RCV005418953] | Chr22:28689174 [GRCh38] Chr22:29085162 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1547C>G (p.Ser516Cys) | single nucleotide variant | Familial cancer of breast [RCV001860691]|Hereditary cancer-predisposing syndrome [RCV001012053] | Chr22:28687982 [GRCh38] Chr22:29083970 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-2A>C | single nucleotide variant | Familial cancer of breast [RCV001862785]|Hereditary cancer-predisposing syndrome [RCV001012114] | Chr22:28687988 [GRCh38] Chr22:29083976 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.65A>G (p.His22Arg) | single nucleotide variant | Familial cancer of breast [RCV002551926]|Hereditary cancer-predisposing syndrome [RCV001025440] | Chr22:28734657 [GRCh38] Chr22:29130645 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys) | single nucleotide variant | CHEK2-related cancer predisposition [RCV001832360]|Familial cancer of breast [RCV001365086]|Hereditary cancer-predisposing syndrome [RCV001025506]|not provided [RCV001759916] | Chr22:28719413 [GRCh38] Chr22:29115401 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1583A>G (p.Glu528Gly) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012265]|Predisposition to cancer [RCV003444741] | Chr22:28687946 [GRCh38] Chr22:29083934 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1451C>G (p.Pro484Arg) | single nucleotide variant | Familial cancer of breast [RCV001215460] | Chr22:28694042 [GRCh38] Chr22:29090030 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.883G>C (p.Glu295Gln) | single nucleotide variant | Familial cancer of breast [RCV001040869] | Chr22:28703530 [GRCh38] Chr22:29099518 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu) | single nucleotide variant | Familial cancer of breast [RCV001230704]|Hereditary cancer-predisposing syndrome [RCV001526004] | Chr22:28725333 [GRCh38] Chr22:29121321 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.673del (p.Thr225fs) | deletion | Familial cancer of breast [RCV001862334]|Hereditary cancer-predisposing syndrome [RCV001025596] | Chr22:28719405 [GRCh38] Chr22:29115393 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1607C>G (p.Pro536Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012354] | Chr22:28687922 [GRCh38] Chr22:29083910 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser) | single nucleotide variant | CHEK2-related disorder [RCV004738118]|Familial cancer of breast [RCV001062056]|Hereditary cancer-predisposing syndrome [RCV001012437]|not provided [RCV001576484] | Chr22:28687911 [GRCh38] Chr22:29083899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1620T>G (p.Ala540=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012438] | Chr22:28687909 [GRCh38] Chr22:29083897 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly) | single nucleotide variant | Familial cancer of breast [RCV001873397]|Hereditary cancer-predisposing syndrome [RCV001025699]|not provided [RCV001567001] | Chr22:28719396 [GRCh38] Chr22:29115384 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.161A>C (p.His54Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012456] | Chr22:28734561 [GRCh38] Chr22:29130549 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) | duplication | Familial cancer of breast [RCV001042297]|Hereditary cancer-predisposing syndrome [RCV001025853]|not provided [RCV004697026] | Chr22:28712004..28712005 [GRCh38] Chr22:29107992..29107993 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val) | single nucleotide variant | Familial cancer of breast [RCV001216533] | Chr22:28687902 [GRCh38] Chr22:29083890 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.808G>A (p.Val270Ile) | single nucleotide variant | Familial cancer of breast [RCV001041102] | Chr22:28710044 [GRCh38] Chr22:29106032 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) | microsatellite | Familial cancer of breast [RCV001219588]|Hereditary cancer-predisposing syndrome [RCV004950365] | Chr22:28695130..28695131 [GRCh38] Chr22:29091118..29091119 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.688G>A (p.Ala230Thr) | single nucleotide variant | Familial cancer of breast [RCV001059613] | Chr22:28712013 [GRCh38] Chr22:29108001 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.750C>T (p.Ile250=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026515] | Chr22:28711951 [GRCh38] Chr22:29107939 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.993G>C (p.Met331Ile) | single nucleotide variant | Familial cancer of breast [RCV001053899] | Chr22:28699853 [GRCh38] Chr22:29095841 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1135T>G (p.Ser379Ala) | single nucleotide variant | Familial cancer of breast [RCV001053959] | Chr22:28695834 [GRCh38] Chr22:29091822 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792+5G>C | single nucleotide variant | Familial cancer of breast [RCV001862391]|Hereditary cancer-predisposing syndrome [RCV001026958] | Chr22:28711904 [GRCh38] Chr22:29107892 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.684-5_684-2delinsC | indel | Familial cancer of breast [RCV001247124] | Chr22:28712019..28712022 [GRCh38] Chr22:29108007..29108010 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) | single nucleotide variant | Breast cancer, susceptibility to [RCV001258053]|Familial cancer of breast [RCV001054096]|Hereditary cancer-predisposing syndrome [RCV004031699] | Chr22:28725101 [GRCh38] Chr22:29121089 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.392A>T (p.Lys131Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001182109] | Chr22:28725295 [GRCh38] Chr22:29121283 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) | single nucleotide variant | CHEK2-related disorder [RCV004536055]|Familial cancer of breast [RCV001349684]|Familial cancer of breast [RCV002481838]|Hereditary cancer-predisposing syndrome [RCV001027013] | Chr22:28710056 [GRCh38] Chr22:29106044 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.195A>C (p.Thr65=) | single nucleotide variant | Familial cancer of breast [RCV003769462]|Hereditary cancer-predisposing syndrome [RCV001013846]|not provided [RCV001800922] | Chr22:28734527 [GRCh38] Chr22:29130515 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.19G>A (p.Val7Ile) | single nucleotide variant | Familial cancer of breast [RCV002550789]|Hereditary cancer-predisposing syndrome [RCV001014002] | Chr22:28734703 [GRCh38] Chr22:29130691 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.376G>T (p.Asp126Tyr) | single nucleotide variant | Familial cancer of breast [RCV001051116]|Hereditary cancer-predisposing syndrome [RCV001021092] | Chr22:28725311 [GRCh38] Chr22:29121299 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.827T>C (p.Ile276Thr) | single nucleotide variant | Familial cancer of breast [RCV001313367]|Hereditary cancer-predisposing syndrome [RCV001027362] | Chr22:28710025 [GRCh38] Chr22:29106013 [GRCh37] Chr22:22q12.1 |
uncertain significance |
Single allele | insertion | Familial cancer of breast [RCV001089817] | Chr22:22q12.1 | pathogenic |
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) | duplication | Familial cancer of breast [RCV003336262]|Hereditary cancer-predisposing syndrome [RCV001023616] | Chr22:28725054..28725055 [GRCh38] Chr22:29121042..29121043 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1207G>A (p.Gly403Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005359747]|Familial cancer of breast [RCV001048118]|Hereditary cancer-predisposing syndrome [RCV001010308] | Chr22:28695762 [GRCh38] Chr22:29091750 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) | deletion | Familial cancer of breast [RCV001201720]|Hereditary cancer-predisposing syndrome [RCV002321999] | Chr22:28725363..28725366 [GRCh38] Chr22:29121351..29121354 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.525A>G (p.Val175=) | single nucleotide variant | Familial cancer of breast [RCV005245690]|Hereditary cancer-predisposing syndrome [RCV001023810] | Chr22:28725044 [GRCh38] Chr22:29121032 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) | single nucleotide variant | Familial cancer of breast [RCV003336227]|Hereditary breast ovarian cancer syndrome [RCV004702576]|Hereditary cancer-predisposing syndrome [RCV001010166] | Chr22:28695789 [GRCh38] Chr22:29091777 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp) | single nucleotide variant | Familial cancer of breast [RCV003770044]|Hereditary cancer-predisposing syndrome [RCV001184367] | Chr22:28710047 [GRCh38] Chr22:29106035 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.608A>T (p.Asp203Val) | single nucleotide variant | Familial cancer of breast [RCV001230411]|Hereditary cancer-predisposing syndrome [RCV002356989] | Chr22:28719470 [GRCh38] Chr22:29115458 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.995del (p.Leu332fs) | deletion | Familial cancer of breast [RCV001051229] | Chr22:28699851 [GRCh38] Chr22:29095839 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.197T>C (p.Val66Ala) | single nucleotide variant | Familial cancer of breast [RCV001040966]|Hereditary cancer-predisposing syndrome [RCV004609582] | Chr22:28734525 [GRCh38] Chr22:29130513 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val) | single nucleotide variant | Familial cancer of breast [RCV001371260]|Hereditary cancer-predisposing syndrome [RCV001177706] | Chr22:28695812 [GRCh38] Chr22:29091800 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.360del (p.Cys121fs) | deletion | Familial cancer of breast [RCV001381969]|Hereditary cancer-predisposing syndrome [RCV001020716] | Chr22:28725327 [GRCh38] Chr22:29121315 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.530A>C (p.Lys177Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001023896] | Chr22:28725039 [GRCh38] Chr22:29121027 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1267G>A (p.Gly423Arg) | single nucleotide variant | Familial cancer of breast [RCV001860646]|Hereditary cancer-predisposing syndrome [RCV001010661] | Chr22:28695235 [GRCh38] Chr22:29091223 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.253C>T (p.Pro85Ser) | single nucleotide variant | Familial cancer of breast [RCV002551786]|Hereditary cancer-predisposing syndrome [RCV001015877] | Chr22:28734469 [GRCh38] Chr22:29130457 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-1G>A | single nucleotide variant | Familial cancer of breast [RCV001037160] | Chr22:28687987 [GRCh38] Chr22:29083975 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1375+10T>C | single nucleotide variant | Familial cancer of breast [RCV005245782]|not specified [RCV001193085] | Chr22:28695117 [GRCh38] Chr22:29091105 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile) | single nucleotide variant | Familial cancer of breast [RCV001294682]|Hereditary cancer-predisposing syndrome [RCV001016263] | Chr22:28734456 [GRCh38] Chr22:29130444 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs) | deletion | Familial cancer of breast [RCV001228231]|Hereditary cancer-predisposing syndrome [RCV002356970] | Chr22:28695750..28695759 [GRCh38] Chr22:29091738..29091747 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.792+2T>A | single nucleotide variant | Familial cancer of breast [RCV001215376]|Ovarian carcinoma [RCV001644952] | Chr22:28711907 [GRCh38] Chr22:29107895 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1056T>C (p.Asn352=) | single nucleotide variant | Familial cancer of breast [RCV005056763]|Hereditary cancer-predisposing syndrome [RCV001017159] | Chr22:28696940 [GRCh38] Chr22:29092928 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1083C>G (p.Asp361Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001017229] | Chr22:28696913 [GRCh38] Chr22:29092901 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1360_1361del (p.Glu454fs) | deletion | Familial cancer of breast [RCV001210845] | Chr22:28695141..28695142 [GRCh38] Chr22:29091129..29091130 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) | single nucleotide variant | Familial cancer of breast [RCV001037472]|Hereditary cancer-predisposing syndrome [RCV002434437]|not provided [RCV001090274] | Chr22:28734431 [GRCh38] Chr22:29130419 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1548_1565del (p.Thr517_Pro522del) | deletion | Familial cancer of breast [RCV001216181] | Chr22:28687964..28687981 [GRCh38] Chr22:29083952..29083969 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.370T>C (p.Cys124Arg) | single nucleotide variant | Familial cancer of breast [RCV001205146] | Chr22:28725317 [GRCh38] Chr22:29121305 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190delinsAspLeuTer) | insertion | Hereditary cancer-predisposing syndrome [RCV001024405] | Chr22:28725000..28725001 [GRCh38] Chr22:29120988..29120989 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.570A>G (p.Ala190=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024440] | Chr22:28724999 [GRCh38] Chr22:29120987 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.57A>G (p.Ser19=) | single nucleotide variant | Familial cancer of breast [RCV005245691]|Hereditary cancer-predisposing syndrome [RCV001024544] | Chr22:28734665 [GRCh38] Chr22:29130653 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.135G>C (p.Thr45=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011172] | Chr22:28734587 [GRCh38] Chr22:29130575 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1376-4T>G | single nucleotide variant | Familial cancer of breast [RCV001438351]|Hereditary cancer-predisposing syndrome [RCV001011227] | Chr22:28694121 [GRCh38] Chr22:29090109 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.592+2T>C | single nucleotide variant | Familial cancer of breast [RCV003155963]|Hereditary cancer-predisposing syndrome [RCV001024687]|not provided [RCV002466607] | Chr22:28724975 [GRCh38] Chr22:29120963 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1112A>C (p.His371Pro) | single nucleotide variant | Familial cancer of breast [RCV001860862]|Hereditary cancer-predisposing syndrome [RCV001017360] | Chr22:28695857 [GRCh38] Chr22:29091845 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala) | single nucleotide variant | Familial cancer of breast [RCV003336249]|Hereditary cancer-predisposing syndrome [RCV001017462]|Malignant tumor of breast [RCV001355097] | Chr22:28695822 [GRCh38] Chr22:29091810 [GRCh37] Chr22:22q12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.295del (p.Leu99fs) | deletion | Familial cancer of breast [RCV003500628]|Hereditary cancer-predisposing syndrome [RCV001017671] | Chr22:28734427 [GRCh38] Chr22:29130415 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter) | single nucleotide variant | Familial cancer of breast [RCV001056400] | Chr22:28711938 [GRCh38] Chr22:29107926 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.5C>T (p.Ser2Phe) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024783]|not provided [RCV003117702] | Chr22:28734717 [GRCh38] Chr22:29130705 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005029570]|Familial cancer of breast [RCV001044863]|Hereditary cancer-predisposing syndrome [RCV001011413] | Chr22:28694087 [GRCh38] Chr22:29090075 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.617T>C (p.Val206Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001024973] | Chr22:28719461 [GRCh38] Chr22:29115449 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1455G>T (p.Trp485Cys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001011668] | Chr22:28694038 [GRCh38] Chr22:29090026 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.845A>G (p.His282Arg) | single nucleotide variant | CHEK2-related cancer predisposition [RCV005367671]|Familial cancer of breast [RCV005093162]|Hereditary cancer-predisposing syndrome [RCV001017835] | Chr22:28710007 [GRCh38] Chr22:29105995 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846T>C (p.His282=) | single nucleotide variant | Familial cancer of breast [RCV001036740]|Hereditary breast ovarian cancer syndrome [RCV004689958]|Hereditary cancer-predisposing syndrome [RCV001017853] | Chr22:28710006 [GRCh38] Chr22:29105994 [GRCh37] Chr22:22q12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.847-2A>G | single nucleotide variant | Familial cancer of breast [RCV001860880]|Gastric cancer [RCV003160178]|Hereditary cancer-predisposing syndrome [RCV001017857] | Chr22:28703568 [GRCh38] Chr22:29099556 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs) | deletion | Familial cancer of breast [RCV001042203] | Chr22:28734460..28734488 [GRCh38] Chr22:29130448..29130476 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs) | deletion | Familial cancer of breast [RCV001042204] | Chr22:28734527..28734528 [GRCh38] Chr22:29130515..29130516 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.792+5_792+7del | deletion | Familial cancer of breast [RCV001214354] | Chr22:28711902..28711904 [GRCh38] Chr22:29107890..29107892 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1096-10T>G | single nucleotide variant | Familial cancer of breast [RCV001062949] | Chr22:28695883 [GRCh38] Chr22:29091871 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1016A>C (p.His339Pro) | single nucleotide variant | Familial cancer of breast [RCV001233064] | Chr22:28696980 [GRCh38] Chr22:29092968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1486C>G (p.Gln496Glu) | single nucleotide variant | Familial cancer of breast [RCV002549351]|Hereditary cancer-predisposing syndrome [RCV001011821] | Chr22:28689191 [GRCh38] Chr22:29085179 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.638C>A (p.Pro213His) | single nucleotide variant | Familial cancer of breast [RCV001070326]|Hereditary cancer-predisposing syndrome [RCV001025208] | Chr22:28719440 [GRCh38] Chr22:29115428 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1504G>A (p.Glu502Lys) | single nucleotide variant | Familial cancer of breast [RCV003607370]|Hereditary cancer-predisposing syndrome [RCV001011937] | Chr22:28689173 [GRCh38] Chr22:29085161 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1529A>G (p.Gln510Arg) | single nucleotide variant | Familial cancer of breast [RCV001045631]|Hereditary cancer-predisposing syndrome [RCV001012026] | Chr22:28689148 [GRCh38] Chr22:29085136 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.874T>C (p.Phe292Leu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018275] | Chr22:28703539 [GRCh38] Chr22:29099527 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.878A>G (p.Asp293Gly) | single nucleotide variant | Familial cancer of breast [RCV001302605]|Hereditary cancer-predisposing syndrome [RCV001018320] | Chr22:28703535 [GRCh38] Chr22:29099523 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(?_28689125)_(28696997_?)del | deletion | Familial cancer of breast [RCV001033716] | Chr22:29085113..29092985 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.793-10T>C | single nucleotide variant | Familial cancer of breast [RCV001232478] | Chr22:28710069 [GRCh38] Chr22:29106057 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.89G>A (p.Gly30Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001018620] | Chr22:28734633 [GRCh38] Chr22:29130621 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.905A>G (p.Glu302Gly) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004720037]|Hereditary cancer-predisposing syndrome [RCV001018730] | Chr22:28703508 [GRCh38] Chr22:29099496 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+2T>C | single nucleotide variant | Familial cancer of breast [RCV001239956]|Hereditary breast ovarian cancer syndrome [RCV002298833]|Hereditary cancer-predisposing syndrome [RCV001018803] | Chr22:28703503 [GRCh38] Chr22:29099491 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.908+3A>T | single nucleotide variant | Familial cancer of breast [RCV001059485]|Hereditary cancer-predisposing syndrome [RCV001018804] | Chr22:28703502 [GRCh38] Chr22:29099490 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1462G>T (p.Asp488Tyr) | single nucleotide variant | Familial cancer of breast [RCV001057173] | Chr22:28689215 [GRCh38] Chr22:29085203 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs) | deletion | Familial cancer of breast [RCV001042829] | Chr22:28719416..28719419 [GRCh38] Chr22:29115404..29115407 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer) | deletion | Familial cancer of breast [RCV001233283]|Hereditary cancer-predisposing syndrome [RCV004951391] | Chr22:28711965..28711968 [GRCh38] Chr22:29107953..29107956 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn) | single nucleotide variant | CHEK2-related cancer predisposition [RCV004527409]|Familial cancer of breast [RCV001873398]|Hereditary breast ovarian cancer syndrome [RCV001030686]|Hereditary cancer-predisposing syndrome [RCV001025715]|not provided [RCV001759918] | Chr22:28719395 [GRCh38] Chr22:29115383 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) | deletion | Familial cancer of breast [RCV001052673]|Hereditary cancer-predisposing syndrome [RCV002379556] | Chr22:28711974..28711975 [GRCh38] Chr22:29107962..29107963 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.842dup (p.Asn281fs) | duplication | Familial cancer of breast [RCV001215561] | Chr22:28710009..28710010 [GRCh38] Chr22:29105997..29105998 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.159_160del (p.His54fs) | microsatellite | Familial cancer of breast [RCV001063646]|Hereditary cancer-predisposing syndrome [RCV003160521] | Chr22:28734562..28734563 [GRCh38] Chr22:29130550..29130551 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs) | insertion | Familial cancer of breast [RCV001229416] | Chr22:28734454..28734455 [GRCh38] Chr22:29130442..29130443 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.16G>T (p.Asp6Tyr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001012797] | Chr22:28734706 [GRCh38] Chr22:29130694 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.719G>A (p.Arg240Lys) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001026142] | Chr22:28711982 [GRCh38] Chr22:29107970 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) | single nucleotide variant | Familial cancer of breast [RCV001228603]|Hereditary cancer-predisposing syndrome [RCV002356973] | Chr22:28725296 [GRCh38] Chr22:29121284 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.335ACT[1] (p.Tyr113del) | microsatellite | Familial cancer of breast [RCV005093194]|Hereditary cancer-predisposing syndrome [RCV001020145] | Chr22:28725347..28725349 [GRCh38] Chr22:29121335..29121337 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.11:g.(29091862_29092888)_(29095926_29099492)del | deletion | Hereditary breast and ovarian cancer syndrome [RCV001254854] | Chr22:29092888..29095926 [GRCh38] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs) | indel | Familial cancer of breast [RCV001253118] | Chr22:28725057..28725058 [GRCh38] Chr22:29121045..29121046 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 | copy number gain | See cases [RCV001263056] | Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_007194.4(CHEK2):c.419G>T (p.Ser140Ile) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607845] | Chr22:28725268 [GRCh38] Chr22:29121256 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.326_341del (p.Val109fs) | deletion | Hereditary cancer-predisposing syndrome [RCV004607851] | Chr22:28725346..28725361 [GRCh38] Chr22:29121334..29121349 [GRCh37] Chr22:22q12.1 |
pathogenic |
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1 | copy number loss | not provided [RCV001258778] | Chr22:28291202..30450920 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NM_007194.4(CHEK2):c.1074AGA[1] (p.Glu360del) | microsatellite | Familial cancer of breast [RCV005102136]|Hereditary cancer-predisposing syndrome [RCV004607830] | Chr22:28696917..28696919 [GRCh38] Chr22:29092905..29092907 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1377del (p.Leu460fs) | deletion | Hereditary cancer-predisposing syndrome [RCV004607834] | Chr22:28694116 [GRCh38] Chr22:29090104 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1341_1342insTGT (p.Phe447_Ile448insCys) | insertion | Hereditary cancer-predisposing syndrome [RCV004607836] | Chr22:28695160..28695161 [GRCh38] Chr22:29091148..29091149 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.195_198del (p.Val66fs) | deletion | Hereditary cancer-predisposing syndrome [RCV004607837] | Chr22:28734524..28734527 [GRCh38] Chr22:29130512..29130515 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1543-18A>G | single nucleotide variant | Familial cancer of breast [RCV005246099] | Chr22:28688004 [GRCh38] Chr22:29083992 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1147A>C (p.Thr383Pro) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607839] | Chr22:28695822 [GRCh38] Chr22:29091810 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.773T>C (p.Ile258Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607841] | Chr22:28711928 [GRCh38] Chr22:29107916 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1317G>A (p.Gln439=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607829] | Chr22:28695185 [GRCh38] Chr22:29091173 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.992del (p.Met331fs) | deletion | Hereditary cancer-predisposing syndrome [RCV004607832] | Chr22:28699854 [GRCh38] Chr22:29095842 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1260-12_1262dup | duplication | Hereditary cancer-predisposing syndrome [RCV004607850] | Chr22:28695239..28695240 [GRCh38] Chr22:29091227..29091228 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.490A>T (p.Ser164Cys) | single nucleotide variant | Familial cancer of breast [RCV001303118] | Chr22:28725079 [GRCh38] Chr22:29121067 [GRCh37] Chr22:22q12.1 |
uncertain significance |
Single allele | deletion | not provided [RCV001257921] | Chr22:27963416..29132458 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.11:g.(28695874_28696900)_(28699938_28703504)del | deletion | Hereditary breast ovarian cancer syndrome [RCV001261473] | Chr22:29092888..29095926 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del) | microsatellite | Familial cancer of breast [RCV001257501] | Chr22:28695737..28695739 [GRCh38] Chr22:29091725..29091727 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6-190C>G | single nucleotide variant | not provided [RCV001528090] | Chr22:28734917 [GRCh38] Chr22:29130905 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.718A>G (p.Arg240Gly) | single nucleotide variant | Familial cancer of breast [RCV001319538] | Chr22:28711983 [GRCh38] Chr22:29107971 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.916G>C (p.Gly306Arg) | single nucleotide variant | Familial cancer of breast [RCV001314079]|Hereditary cancer-predisposing syndrome [RCV005318733] | Chr22:28699930 [GRCh38] Chr22:29095918 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.601T>A (p.Phe201Ile) | single nucleotide variant | Familial cancer of breast [RCV001338144] | Chr22:28719477 [GRCh38] Chr22:29115465 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg) | single nucleotide variant | Familial cancer of breast [RCV001298011]|Hereditary cancer-predisposing syndrome [RCV004951457] | Chr22:28734539 [GRCh38] Chr22:29130527 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083875)_(29095935_?)dup | duplication | Familial cancer of breast [RCV001305102] | Chr22:29083875..29095935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1517C>G (p.Thr506Arg) | single nucleotide variant | Familial cancer of breast [RCV001307026] | Chr22:28689160 [GRCh38] Chr22:29085148 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1414A>C (p.Lys472Gln) | single nucleotide variant | Familial cancer of breast [RCV001342043] | Chr22:28694079 [GRCh38] Chr22:29090067 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083885)_(29108015_?)dup | duplication | Familial cancer of breast [RCV001320084] | Chr22:29083885..29108015 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29092879)_(29092985_?)del | deletion | Familial cancer of breast [RCV001305100] | Chr22:29092879..29092985 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1381G>C (p.Asp461His) | single nucleotide variant | Familial cancer of breast [RCV001301780]|Hereditary cancer-predisposing syndrome [RCV002384361] | Chr22:28694112 [GRCh38] Chr22:29090100 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.68G>C (p.Gly23Ala) | single nucleotide variant | Familial cancer of breast [RCV001342356] | Chr22:28734654 [GRCh38] Chr22:29130642 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1544C>T (p.Pro515Leu) | single nucleotide variant | Familial cancer of breast [RCV001338493] | Chr22:28687985 [GRCh38] Chr22:29083973 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1214A>T (p.Asn405Ile) | single nucleotide variant | Familial cancer of breast [RCV001317140] | Chr22:28695755 [GRCh38] Chr22:29091743 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser) | single nucleotide variant | Familial cancer of breast [RCV001296299]|not specified [RCV003320485] | Chr22:28695713 [GRCh38] Chr22:29091701 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1157G>C (p.Gly386Ala) | single nucleotide variant | Familial cancer of breast [RCV001351765] | Chr22:28695812 [GRCh38] Chr22:29091800 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.279G>T (p.Trp93Cys) | single nucleotide variant | Familial cancer of breast [RCV001349109]|Hereditary cancer-predisposing syndrome [RCV002438810] | Chr22:28734443 [GRCh38] Chr22:29130431 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu) | single nucleotide variant | Familial cancer of breast [RCV001303112] | Chr22:28699864 [GRCh38] Chr22:29095852 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly) | single nucleotide variant | Familial cancer of breast [RCV001318218]|Hereditary cancer-predisposing syndrome [RCV003166840]|not provided [RCV001751611] | Chr22:28711974 [GRCh38] Chr22:29107962 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1097T>G (p.Ile366Ser) | single nucleotide variant | Familial cancer of breast [RCV001296798] | Chr22:28695872 [GRCh38] Chr22:29091860 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1385T>A (p.Leu462His) | single nucleotide variant | Familial cancer of breast [RCV001295664] | Chr22:28694108 [GRCh38] Chr22:29090096 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+4A>C | single nucleotide variant | Familial cancer of breast [RCV001350705] | Chr22:28719391 [GRCh38] Chr22:29115379 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1544C>A (p.Pro515His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004610284] | Chr22:28687985 [GRCh38] Chr22:29083973 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1182A>G (p.Glu394=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004610293] | Chr22:28695787 [GRCh38] Chr22:29091775 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.466T>A (p.Tyr156Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004610294] | Chr22:28725103 [GRCh38] Chr22:29121091 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer) | deletion | Familial cancer of breast [RCV001383335]|Hereditary cancer-predisposing syndrome [RCV004611798] | Chr22:28725021 [GRCh38] Chr22:29121009 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1384C>G (p.Leu462Val) | single nucleotide variant | Familial cancer of breast [RCV001350363]|Hereditary cancer-predisposing syndrome [RCV002384490] | Chr22:28694109 [GRCh38] Chr22:29090097 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-10T>C | single nucleotide variant | Familial cancer of breast [RCV001394598] | Chr22:28699947 [GRCh38] Chr22:29095935 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.10:g.(?_29083885)_(29115483_?)dup | duplication | Familial cancer of breast [RCV001305101] | Chr22:29083885..29115483 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr) | single nucleotide variant | Malignant tumor of breast [RCV001354361] | Chr22:28703533 [GRCh38] Chr22:29099521 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NG_008150.2:g.14927_51132dup | duplication | Malignant tumor of breast [RCV001391302] | Chr22:28695735..28731940 [GRCh38] Chr22:29091723..29127928 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.3:c.-72_1632del | deletion | not provided [RCV001283975] | pathogenic | |
NM_007194.4(CHEK2):c.1203T>A (p.Thr401=) | single nucleotide variant | Familial cancer of breast [RCV001358852] | Chr22:28695766 [GRCh38] Chr22:29091754 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1462-1_1542+2del | deletion | Malignant tumor of breast [RCV001355374] | Chr22:28689133..28689216 [GRCh38] Chr22:29085121..29085204 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002377502]|Malignant tumor of breast [RCV001355605] | Chr22:28711984 [GRCh38] Chr22:29107972 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.980A>T (p.Tyr327Phe) | single nucleotide variant | Breast and/or ovarian cancer [RCV001799338] | Chr22:28699866 [GRCh38] Chr22:29095854 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs) | deletion | Malignant tumor of breast [RCV001356269] | Chr22:28689197..28689201 [GRCh38] Chr22:29085185..29085189 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.683+6T>C | single nucleotide variant | Familial cancer of breast [RCV001369798] | Chr22:28719389 [GRCh38] Chr22:29115377 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29090010)_(29115483_?)del | deletion | Familial cancer of breast [RCV001383160] | Chr22:29090010..29115483 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29105988)_(29115479_?)del | deletion | Familial cancer of breast [RCV001383161] | Chr22:29105988..29115479 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29099483)_(29108015_?)del | deletion | Familial cancer of breast [RCV001383162] | Chr22:29099483..29108015 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29083885)_(29099564_?)del | deletion | Familial cancer of breast [RCV001383163] | Chr22:29083885..29099564 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.41G>T (p.Gly14Val) | single nucleotide variant | Familial cancer of breast [RCV001307914] | Chr22:28734681 [GRCh38] Chr22:29130669 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser) | single nucleotide variant | Familial cancer of breast [RCV002548506]|Familial ovarian cancer [RCV001355267] | Chr22:28725057 [GRCh38] Chr22:29121045 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.977T>C (p.Leu326Pro) | single nucleotide variant | Familial cancer of breast [RCV001369981]|Hereditary cancer-predisposing syndrome [RCV002384535] | Chr22:28699869 [GRCh38] Chr22:29095857 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1324del (p.Ser442fs) | deletion | Malignant tumor of breast [RCV001357386] | Chr22:28695178 [GRCh38] Chr22:29091166 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.598G>T (p.Val200Phe) | single nucleotide variant | Familial cancer of breast [RCV001348477] | Chr22:28719480 [GRCh38] Chr22:29115468 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.125C>G (p.Ser42Cys) | single nucleotide variant | Familial cancer of breast [RCV001312981] | Chr22:28734597 [GRCh38] Chr22:29130585 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1184T>A (p.Val395Asp) | single nucleotide variant | Familial cancer of breast [RCV001372891] | Chr22:28695785 [GRCh38] Chr22:29091773 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1361A>C (p.Glu454Ala) | single nucleotide variant | Familial cancer of breast [RCV001362768]|Hereditary cancer-predisposing syndrome [RCV004611786] | Chr22:28695141 [GRCh38] Chr22:29091129 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1461+5G>C | single nucleotide variant | Familial cancer of breast [RCV001362082]|Hereditary cancer-predisposing syndrome [RCV004951610] | Chr22:28694027 [GRCh38] Chr22:29090015 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+10A>G | single nucleotide variant | Familial cancer of breast [RCV001433789] | Chr22:28709996 [GRCh38] Chr22:29105984 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.554A>G (p.Asn185Ser) | single nucleotide variant | Familial cancer of breast [RCV001351768] | Chr22:28725015 [GRCh38] Chr22:29121003 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1231T>C (p.Trp411Arg) | single nucleotide variant | Familial cancer of breast [RCV001363025] | Chr22:28695738 [GRCh38] Chr22:29091726 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.976C>G (p.Leu326Val) | single nucleotide variant | Familial cancer of breast [RCV001343431] | Chr22:28699870 [GRCh38] Chr22:29095858 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792A>G (p.Ala264=) | single nucleotide variant | Familial cancer of breast [RCV001343434] | Chr22:28711909 [GRCh38] Chr22:29107897 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.438_592+3del | deletion | Familial ovarian cancer [RCV001354390] | Chr22:28724974..28725249 [GRCh38] Chr22:29120962..29121237 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-3C>G | single nucleotide variant | Familial cancer of breast [RCV001343541]|Hereditary cancer-predisposing syndrome [RCV003365349] | Chr22:28699940 [GRCh38] Chr22:29095928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.562G>A (p.Glu188Lys) | single nucleotide variant | Familial cancer of breast [RCV001309535]|Hereditary cancer-predisposing syndrome [RCV005318726] | Chr22:28725007 [GRCh38] Chr22:29120995 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.193A>T (p.Thr65Ser) | single nucleotide variant | Familial cancer of breast [RCV001320050]|Hereditary cancer-predisposing syndrome [RCV005318739] | Chr22:28734529 [GRCh38] Chr22:29130517 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.52T>C (p.Cys18Arg) | single nucleotide variant | Familial cancer of breast [RCV001322880]|Hereditary cancer-predisposing syndrome [RCV002350595] | Chr22:28734670 [GRCh38] Chr22:29130658 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.968C>T (p.Thr323Ile) | single nucleotide variant | Familial cancer of breast [RCV001315684]|Hereditary cancer-predisposing syndrome [RCV004034365] | Chr22:28699878 [GRCh38] Chr22:29095866 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.775G>T (p.Gly259Cys) | single nucleotide variant | Familial cancer of breast [RCV001307450]|Hereditary cancer-predisposing syndrome [RCV004034126] | Chr22:28711926 [GRCh38] Chr22:29107914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) | single nucleotide variant | Familial cancer of breast [RCV001322999]|Hereditary cancer-predisposing syndrome [RCV002418968] | Chr22:28734721 [GRCh38] Chr22:29130709 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.498T>A (p.Asn166Lys) | single nucleotide variant | Familial cancer of breast [RCV001371662] | Chr22:28725071 [GRCh38] Chr22:29121059 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1549A>G (p.Thr517Ala) | single nucleotide variant | Familial cancer of breast [RCV001361145]|Hereditary cancer-predisposing syndrome [RCV002404852] | Chr22:28687980 [GRCh38] Chr22:29083968 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn) | single nucleotide variant | Familial cancer of breast [RCV002547688]|Hereditary cancer-predisposing syndrome [RCV003365358]|Malignant tumor of breast [RCV001358323] | Chr22:28703517 [GRCh38] Chr22:29099505 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1436A>T (p.Glu479Val) | single nucleotide variant | Familial cancer of breast [RCV001365306] | Chr22:28694057 [GRCh38] Chr22:29090045 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-13_1009-6del | deletion | Familial cancer of breast [RCV001316016] | Chr22:28696993..28697000 [GRCh38] Chr22:29092981..29092988 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444G>A (p.Arg148=) | single nucleotide variant | Familial cancer of breast [RCV001301932] | Chr22:28725243 [GRCh38] Chr22:29121231 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.151C>G (p.Gln51Glu) | single nucleotide variant | Familial cancer of breast [RCV001322147]|Hereditary cancer-predisposing syndrome [RCV002395707] | Chr22:28734571 [GRCh38] Chr22:29130559 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.419G>C (p.Ser140Thr) | single nucleotide variant | Familial cancer of breast [RCV001372277]|Hereditary cancer-predisposing syndrome [RCV004037528] | Chr22:28725268 [GRCh38] Chr22:29121256 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444+5dup | duplication | Familial cancer of breast [RCV001350469] | Chr22:28725237..28725238 [GRCh38] Chr22:29121225..29121226 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.747G>T (p.Lys249Asn) | single nucleotide variant | Familial cancer of breast [RCV001317848] | Chr22:28711954 [GRCh38] Chr22:29107942 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1493T>C (p.Leu498Pro) | single nucleotide variant | Familial cancer of breast [RCV001344172] | Chr22:28689184 [GRCh38] Chr22:29085172 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.398C>T (p.Thr133Ile) | single nucleotide variant | Familial cancer of breast [RCV001316071]|Hereditary cancer-predisposing syndrome [RCV004951511] | Chr22:28725289 [GRCh38] Chr22:29121277 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.850T>C (p.Cys284Arg) | single nucleotide variant | Familial cancer of breast [RCV001347612] | Chr22:28703563 [GRCh38] Chr22:29099551 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.289T>C (p.Trp97Arg) | single nucleotide variant | Familial cancer of breast [RCV001361730]|Hereditary cancer-predisposing syndrome [RCV002438836] | Chr22:28734433 [GRCh38] Chr22:29130421 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.793-110_846+2del | deletion | Malignant tumor of breast [RCV001357360] | Chr22:28710004..28710169 [GRCh38] Chr22:29105992..29106157 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.614C>G (p.Thr205Ser) | single nucleotide variant | Familial cancer of breast [RCV001304131] | Chr22:28719464 [GRCh38] Chr22:29115452 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1070C>G (p.Ser357Cys) | single nucleotide variant | Familial cancer of breast [RCV001299417]|Hereditary cancer-predisposing syndrome [RCV002418903]|not provided [RCV004590305] | Chr22:28696926 [GRCh38] Chr22:29092914 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1426A>C (p.Thr476Pro) | single nucleotide variant | Familial cancer of breast [RCV001342939] | Chr22:28694067 [GRCh38] Chr22:29090055 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1205C>G (p.Ala402Gly) | single nucleotide variant | Familial cancer of breast [RCV001322507] | Chr22:28695764 [GRCh38] Chr22:29091752 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.337T>C (p.Tyr113His) | single nucleotide variant | Familial cancer of breast [RCV001304474]|Hereditary cancer-predisposing syndrome [RCV004036312] | Chr22:28725350 [GRCh38] Chr22:29121338 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.995T>G (p.Leu332Arg) | single nucleotide variant | Familial cancer of breast [RCV001350600] | Chr22:28699851 [GRCh38] Chr22:29095839 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.268C>A (p.Pro90Thr) | single nucleotide variant | Familial cancer of breast [RCV001297666] | Chr22:28734454 [GRCh38] Chr22:29130442 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908T>G (p.Leu303Trp) | single nucleotide variant | Familial cancer of breast [RCV001305168]|Hereditary cancer-predisposing syndrome [RCV004951486] | Chr22:28703505 [GRCh38] Chr22:29099493 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.955C>G (p.Leu319Val) | single nucleotide variant | Familial cancer of breast [RCV001317400] | Chr22:28699891 [GRCh38] Chr22:29095879 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+6del | deletion | Familial cancer of breast [RCV001341648] | Chr22:28703499 [GRCh38] Chr22:29099487 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.466T>C (p.Tyr156His) | single nucleotide variant | Familial cancer of breast [RCV001321222] | Chr22:28725103 [GRCh38] Chr22:29121091 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.759A>C (p.Lys253Asn) | single nucleotide variant | Familial cancer of breast [RCV001362356] | Chr22:28711942 [GRCh38] Chr22:29107930 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.461A>G (p.Asn154Ser) | single nucleotide variant | Familial cancer of breast [RCV001363824] | Chr22:28725108 [GRCh38] Chr22:29121096 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.13T>G (p.Ser5Ala) | single nucleotide variant | Familial cancer of breast [RCV001314334] | Chr22:28734709 [GRCh38] Chr22:29130697 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.50C>T (p.Ala17Val) | single nucleotide variant | Familial cancer of breast [RCV001362493] | Chr22:28734672 [GRCh38] Chr22:29130660 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.382_383delinsTT (p.Pro128Leu) | indel | Familial cancer of breast [RCV001298933] | Chr22:28725304..28725305 [GRCh38] Chr22:29121292..29121293 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1390AAG[1] (p.Lys465del) | microsatellite | Familial cancer of breast [RCV001366197]|Hereditary cancer-predisposing syndrome [RCV002395828] | Chr22:28694098..28694100 [GRCh38] Chr22:29090086..29090088 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1135T>C (p.Ser379Pro) | single nucleotide variant | Familial cancer of breast [RCV001314397] | Chr22:28695834 [GRCh38] Chr22:29091822 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.355A>G (p.Lys119Glu) | single nucleotide variant | Familial cancer of breast [RCV001351788] | Chr22:28725332 [GRCh38] Chr22:29121320 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.288A>T (p.Leu96Phe) | single nucleotide variant | Familial cancer of breast [RCV001338091]|Familial prostate cancer [RCV005361540]|Hereditary cancer-predisposing syndrome [RCV005318751] | Chr22:28734434 [GRCh38] Chr22:29130422 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala) | single nucleotide variant | Familial cancer of breast [RCV001359952]|not specified [RCV002246338] | Chr22:28719465 [GRCh38] Chr22:29115453 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29130381)_(29130713_?)dup | duplication | Familial cancer of breast [RCV001314512] | Chr22:29130381..29130713 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1074A>C (p.Gln358His) | single nucleotide variant | Familial cancer of breast [RCV001350339] | Chr22:28696922 [GRCh38] Chr22:29092910 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1375G>T (p.Ala459Ser) | single nucleotide variant | Familial cancer of breast [RCV001306420]|Hereditary cancer-predisposing syndrome [RCV002384375] | Chr22:28695127 [GRCh38] Chr22:29091115 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1542+6C>G | single nucleotide variant | Familial cancer of breast [RCV001297810] | Chr22:28689129 [GRCh38] Chr22:29085117 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1085G>T (p.Cys362Phe) | single nucleotide variant | Familial cancer of breast [RCV001340289] | Chr22:28696911 [GRCh38] Chr22:29092899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.491G>A (p.Ser164Asn) | single nucleotide variant | Familial cancer of breast [RCV001314203]|Hereditary cancer-predisposing syndrome [RCV002341634] | Chr22:28725078 [GRCh38] Chr22:29121066 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1537G>A (p.Ala513Thr) | single nucleotide variant | Familial cancer of breast [RCV001296196] | Chr22:28689140 [GRCh38] Chr22:29085128 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1294A>C (p.Thr432Pro) | single nucleotide variant | Familial cancer of breast [RCV001366725]|Hereditary cancer-predisposing syndrome [RCV002384528] | Chr22:28695208 [GRCh38] Chr22:29091196 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.128C>A (p.Thr43Asn) | single nucleotide variant | Familial cancer of breast [RCV001338466] | Chr22:28734594 [GRCh38] Chr22:29130582 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.360C>T (p.Ser120=) | single nucleotide variant | Familial cancer of breast [RCV001412423]|Hereditary cancer-predisposing syndrome [RCV003160648] | Chr22:28725327 [GRCh38] Chr22:29121315 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup | duplication | Hereditary cancer-predisposing syndrome [RCV001376096] | likely pathogenic | |
NM_007194.4(CHEK2):c.157T>G (p.Ser53Ala) | single nucleotide variant | Familial cancer of breast [RCV001300193] | Chr22:28734565 [GRCh38] Chr22:29130553 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.698A>C (p.Glu233Ala) | single nucleotide variant | Familial cancer of breast [RCV001338315] | Chr22:28712003 [GRCh38] Chr22:29107991 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile) | single nucleotide variant | Familial cancer of breast [RCV001365348]|Hereditary cancer-predisposing syndrome [RCV004611789]|not provided [RCV003325567] | Chr22:28695803 [GRCh38] Chr22:29091791 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.819A>C (p.Glu273Asp) | single nucleotide variant | Familial cancer of breast [RCV001325816] | Chr22:28710033 [GRCh38] Chr22:29106021 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1112A>G (p.His371Arg) | single nucleotide variant | Familial cancer of breast [RCV001338378]|Hereditary cancer-predisposing syndrome [RCV002438768] | Chr22:28695857 [GRCh38] Chr22:29091845 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-100_1095+3del | deletion | Familial cancer of breast [RCV001355121] | Chr22:28696898..28697087 [GRCh38] Chr22:29092886..29093075 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.899T>G (p.Val300Gly) | single nucleotide variant | Familial cancer of breast [RCV001351554] | Chr22:28703514 [GRCh38] Chr22:29099502 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.258G>A (p.Glu86=) | single nucleotide variant | Malignant tumor of breast [RCV001354695] | Chr22:28734464 [GRCh38] Chr22:29130452 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.956T>G (p.Leu319Arg) | single nucleotide variant | Familial cancer of breast [RCV001308037] | Chr22:28699890 [GRCh38] Chr22:29095878 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1259+10A>G | single nucleotide variant | Familial cancer of breast [RCV001396346] | Chr22:28695700 [GRCh38] Chr22:29091688 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.502A>C (p.Thr168Pro) | single nucleotide variant | Familial cancer of breast [RCV001315793] | Chr22:28725067 [GRCh38] Chr22:29121055 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1433A>T (p.Glu478Val) | single nucleotide variant | Familial cancer of breast [RCV001337932] | Chr22:28694060 [GRCh38] Chr22:29090048 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup | duplication | Hereditary cancer-predisposing syndrome [RCV001376095] | likely pathogenic | |
NM_007194.4(CHEK2):c.1122T>A (p.Ile374=) | single nucleotide variant | Familial cancer of breast [RCV001474909] | Chr22:28695847 [GRCh38] Chr22:29091835 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1539C>G (p.Ala513=) | single nucleotide variant | Familial cancer of breast [RCV001494642] | Chr22:28689138 [GRCh38] Chr22:29085126 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1241_1243del (p.Gly414del) | deletion | not provided [RCV001508928] | Chr22:28695726..28695728 [GRCh38] Chr22:29091714..29091716 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1366_1367dup (p.Glu457fs) | microsatellite | Hereditary cancer-predisposing syndrome [RCV001524717] | Chr22:28695134..28695135 [GRCh38] Chr22:29091122..29091123 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29082731)_(29138822_?)del | deletion | Familial cancer of breast [RCV001380216] | Chr22:29082731..29138822 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1263T>C (p.Leu421=) | single nucleotide variant | Familial cancer of breast [RCV001427711] | Chr22:28695239 [GRCh38] Chr22:29091227 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1326T>C (p.Ser442=) | single nucleotide variant | Familial cancer of breast [RCV001470007] | Chr22:28695176 [GRCh38] Chr22:29091164 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.320-4A>G | single nucleotide variant | Familial cancer of breast [RCV001465241]|Hereditary cancer-predisposing syndrome [RCV002449243] | Chr22:28725371 [GRCh38] Chr22:29121359 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.684-2A>G | single nucleotide variant | CHEK2-related cancer predisposition [RCV005361582]|Familial cancer of breast [RCV001377776]|Familial cancer of breast [RCV002499777]|Hereditary breast ovarian cancer syndrome [RCV004764801]|Hereditary cancer-predisposing syndrome [RCV002368214] | Chr22:28712019 [GRCh38] Chr22:29108007 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.693T>C (p.Cys231=) | single nucleotide variant | Familial cancer of breast [RCV001490766]|Hereditary cancer-predisposing syndrome [RCV004611833] | Chr22:28712008 [GRCh38] Chr22:29107996 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.975G>A (p.Lys325=) | single nucleotide variant | Familial cancer of breast [RCV001404948] | Chr22:28699871 [GRCh38] Chr22:29095859 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1359A>C (p.Ala453=) | single nucleotide variant | Familial cancer of breast [RCV001496438] | Chr22:28695143 [GRCh38] Chr22:29091131 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1096-7A>T | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001525959] | Chr22:28695880 [GRCh38] Chr22:29091868 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083885)_(30337586_?)del | deletion | Neurofibromatosis, type 2 [RCV001390044] | Chr22:29083885..30337586 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NM_007194.4(CHEK2):c.261G>A (p.Glu87=) | single nucleotide variant | Familial cancer of breast [RCV001475405]|Hereditary cancer-predisposing syndrome [RCV002439135] | Chr22:28734461 [GRCh38] Chr22:29130449 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.593-4T>A | single nucleotide variant | Familial cancer of breast [RCV001500284] | Chr22:28719489 [GRCh38] Chr22:29115477 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1362del (p.Val455fs) | deletion | Familial cancer of breast [RCV001380816] | Chr22:28695140 [GRCh38] Chr22:29091128 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) | microsatellite | Familial cancer of breast [RCV001380817]|Hereditary cancer-predisposing syndrome [RCV002413911] | Chr22:28711912..28711913 [GRCh38] Chr22:29107900..29107901 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.319+43dup | duplication | Familial cancer of breast [RCV001517086]|Hereditary breast ovarian cancer syndrome [RCV002225841]|not provided [RCV001707870] | Chr22:28734359..28734360 [GRCh38] Chr22:29130347..29130348 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.537A>G (p.Lys179=) | single nucleotide variant | Familial cancer of breast [RCV001402971] | Chr22:28725032 [GRCh38] Chr22:29121020 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.444+8A>G | single nucleotide variant | Familial cancer of breast [RCV001465469] | Chr22:28725235 [GRCh38] Chr22:29121223 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1376-6C>T | single nucleotide variant | Familial cancer of breast [RCV001442292] | Chr22:28694123 [GRCh38] Chr22:29090111 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.445-14G>A | single nucleotide variant | Familial cancer of breast [RCV003607421]|Hereditary cancer-predisposing syndrome [RCV001524635] | Chr22:28725138 [GRCh38] Chr22:29121126 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) | insertion | Familial cancer of breast [RCV001383501] | Chr22:28719414..28719415 [GRCh38] Chr22:29115402..29115403 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=) | single nucleotide variant | Familial cancer of breast [RCV001483174]|Hereditary cancer-predisposing syndrome [RCV003298852] | Chr22:28687981 [GRCh38] Chr22:29083969 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1404A>G (p.Val468=) | single nucleotide variant | Familial cancer of breast [RCV001474441]|Hereditary cancer-predisposing syndrome [RCV002396122] | Chr22:28694089 [GRCh38] Chr22:29090077 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.624T>C (p.Asp208=) | single nucleotide variant | Familial cancer of breast [RCV001504336]|Hereditary cancer-predisposing syndrome [RCV002368531] | Chr22:28719454 [GRCh38] Chr22:29115442 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.593-2A>G | single nucleotide variant | Familial cancer of breast [RCV001379343] | Chr22:28719487 [GRCh38] Chr22:29115475 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.10:g.(?_29092879)_(29095935_?)del | deletion | Familial cancer of breast [RCV001388375] | Chr22:29092879..29095935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29121104)_29125326del | deletion | Familial cancer of breast [RCV001388376] | pathogenic | |
NC_000022.10:g.(?_29105984)_(30337586_?)del | deletion | Familial cancer of breast [RCV001390747] | Chr22:29105984..30337586 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NC_000022.10:g.(?_29083885)_(29090115_?)del | deletion | Familial cancer of breast [RCV001390748] | Chr22:29083885..29090115 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.909-15G>A | single nucleotide variant | Familial cancer of breast [RCV002071884]|Hereditary cancer-predisposing syndrome [RCV001525198] | Chr22:28699952 [GRCh38] Chr22:29095940 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=) | single nucleotide variant | Familial cancer of breast [RCV003500681]|Hereditary cancer-predisposing syndrome [RCV001525284] | Chr22:28694062 [GRCh38] Chr22:29090050 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.750C>A (p.Ile250=) | single nucleotide variant | Familial cancer of breast [RCV001453176] | Chr22:28711951 [GRCh38] Chr22:29107939 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.577C>T (p.Leu193=) | single nucleotide variant | Familial cancer of breast [RCV001501255] | Chr22:28724992 [GRCh38] Chr22:29120980 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.597T>C (p.Phe199=) | single nucleotide variant | Familial cancer of breast [RCV001470329] | Chr22:28719481 [GRCh38] Chr22:29115469 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.359del (p.Ser120fs) | deletion | Familial cancer of breast [RCV001386363] | Chr22:28725328 [GRCh38] Chr22:29121316 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1420del (p.Arg474fs) | deletion | Familial cancer of breast [RCV001383723] | Chr22:28694073 [GRCh38] Chr22:29090061 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.474A>T (p.Ala158=) | single nucleotide variant | Familial cancer of breast [RCV001491772] | Chr22:28725095 [GRCh38] Chr22:29121083 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.849T>G (p.Pro283=) | single nucleotide variant | Familial cancer of breast [RCV001493202]|Hereditary cancer-predisposing syndrome [RCV002449302] | Chr22:28703564 [GRCh38] Chr22:29099552 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1446A>G (p.Arg482=) | single nucleotide variant | Familial cancer of breast [RCV001484441] | Chr22:28694047 [GRCh38] Chr22:29090035 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.30G>A (p.Gln10=) | single nucleotide variant | Familial cancer of breast [RCV001493291] | Chr22:28734692 [GRCh38] Chr22:29130680 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.516A>G (p.Thr172=) | single nucleotide variant | Familial cancer of breast [RCV001493361] | Chr22:28725053 [GRCh38] Chr22:29121041 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.180G>A (p.Leu60=) | single nucleotide variant | Familial cancer of breast [RCV002568839]|Hereditary cancer-predisposing syndrome [RCV001526325] | Chr22:28734542 [GRCh38] Chr22:29130530 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.222del (p.Pro75fs) | deletion | Familial cancer of breast [RCV001384270]|Hereditary cancer-predisposing syndrome [RCV004951661] | Chr22:28734500 [GRCh38] Chr22:29130488 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.768dup (p.Ala257fs) | duplication | Familial cancer of breast [RCV001387182] | Chr22:28711932..28711933 [GRCh38] Chr22:29107920..29107921 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.483A>G (p.Glu161=) | single nucleotide variant | Familial cancer of breast [RCV001448531]|Hereditary cancer-predisposing syndrome [RCV004951771] | Chr22:28725086 [GRCh38] Chr22:29121074 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.664_676del (p.Met222fs) | deletion | Familial cancer of breast [RCV001382309] | Chr22:28719402..28719414 [GRCh38] Chr22:29115390..29115402 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1185T>G (p.Val395=) | single nucleotide variant | Familial cancer of breast [RCV001448666] | Chr22:28695784 [GRCh38] Chr22:29091772 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.10:g.(?_29083885)_(29130709_?)del | deletion | Familial cancer of breast [RCV001380217] | Chr22:29083885..29130709 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29091105)_(29091240_?)del | deletion | Familial cancer of breast [RCV001380218] | Chr22:29091105..29091240 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.41del (p.Gly14fs) | deletion | Familial cancer of breast [RCV001388156] | Chr22:28734681 [GRCh38] Chr22:29130669 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.858C>T (p.Ile286=) | single nucleotide variant | Familial cancer of breast [RCV001397748] | Chr22:28703555 [GRCh38] Chr22:29099543 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+2T>C | single nucleotide variant | Familial cancer of breast [RCV001377895] | Chr22:28695125 [GRCh38] Chr22:29091113 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=) | single nucleotide variant | Familial cancer of breast [RCV001402188]|Hereditary cancer-predisposing syndrome [RCV004611805]|not specified [RCV003320486] | Chr22:28694065 [GRCh38] Chr22:29090053 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.750del (p.Ile251fs) | deletion | Familial cancer of breast [RCV001389565] | Chr22:28711951 [GRCh38] Chr22:29107939 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs) | duplication | Familial cancer of breast [RCV001385396] | Chr22:28695237..28695238 [GRCh38] Chr22:29091225..29091226 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.684-1del | deletion | Familial cancer of breast [RCV001378496] | Chr22:28712018 [GRCh38] Chr22:29108006 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs) | duplication | Familial cancer of breast [RCV001388288] | Chr22:28695722..28695723 [GRCh38] Chr22:29091710..29091711 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.724del (p.Thr242fs) | deletion | CHEK2-related cancer predisposition [RCV004822380]|Familial cancer of breast [RCV001389599] | Chr22:28711977 [GRCh38] Chr22:29107965 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs) | deletion | Familial cancer of breast [RCV001380830] | Chr22:28725284..28725287 [GRCh38] Chr22:29121272..29121275 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.55del (p.Ser19fs) | deletion | Familial cancer of breast [RCV001385048] | Chr22:28734667 [GRCh38] Chr22:29130655 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.664del (p.Met222fs) | deletion | Familial cancer of breast [RCV001380516] | Chr22:28719414 [GRCh38] Chr22:29115402 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29081001)_29140000del | deletion | Familial cancer of breast [RCV001388034] | pathogenic | |
NM_007194.4(CHEK2):c.471del (p.Ile157fs) | deletion | Familial cancer of breast [RCV001381133] | Chr22:28725098 [GRCh38] Chr22:29121086 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1110G>T (p.Gly370=) | single nucleotide variant | Familial cancer of breast [RCV001415507] | Chr22:28695859 [GRCh38] Chr22:29091847 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.502del (p.Thr168fs) | deletion | Familial cancer of breast [RCV001388181] | Chr22:28725067 [GRCh38] Chr22:29121055 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs) | deletion | Familial cancer of breast [RCV001388198] | Chr22:28734488..28734489 [GRCh38] Chr22:29130476..29130477 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs) | deletion | Familial cancer of breast [RCV001390538] | Chr22:28699877..28699878 [GRCh38] Chr22:29095865..29095866 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.621T>C (p.Asp207=) | single nucleotide variant | Familial cancer of breast [RCV001444741] | Chr22:28719457 [GRCh38] Chr22:29115445 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1543-4T>C | single nucleotide variant | Familial cancer of breast [RCV001408082] | Chr22:28687990 [GRCh38] Chr22:29083978 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1431A>G (p.Thr477=) | single nucleotide variant | Familial cancer of breast [RCV001426734]|Hereditary cancer-predisposing syndrome [RCV002395979] | Chr22:28694062 [GRCh38] Chr22:29090050 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) | deletion | Familial cancer of breast [RCV001378495] | Chr22:28689154..28689178 [GRCh38] Chr22:29085142..29085166 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1462-8C>A | single nucleotide variant | Familial cancer of breast [RCV001400042] | Chr22:28689223 [GRCh38] Chr22:29085211 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.615T>C (p.Thr205=) | single nucleotide variant | Familial cancer of breast [RCV001405795] | Chr22:28719463 [GRCh38] Chr22:29115451 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.27T>G (p.Ala9=) | single nucleotide variant | Familial cancer of breast [RCV001447577] | Chr22:28734695 [GRCh38] Chr22:29130683 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.429C>T (p.His143=) | single nucleotide variant | Familial cancer of breast [RCV001401228] | Chr22:28725258 [GRCh38] Chr22:29121246 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) | single nucleotide variant | Familial cancer of breast [RCV001386595] | Chr22:28694038 [GRCh38] Chr22:29090026 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.858C>A (p.Ile286=) | single nucleotide variant | Familial cancer of breast [RCV001404012]|Hereditary cancer-predisposing syndrome [RCV002449102]|Hereditary nonpolyposis colon cancer [RCV005361601] | Chr22:28703555 [GRCh38] Chr22:29099543 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.847-8C>T | single nucleotide variant | Familial cancer of breast [RCV001424155]|not provided [RCV004998891] | Chr22:28703574 [GRCh38] Chr22:29099562 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.82del (p.Ser28fs) | deletion | Familial cancer of breast [RCV001385600] | Chr22:28734640 [GRCh38] Chr22:29130628 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) | insertion | Familial cancer of breast [RCV001390827] | Chr22:28719409..28719410 [GRCh38] Chr22:29115397..29115398 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.366A>G (p.Glu122=) | single nucleotide variant | Familial cancer of breast [RCV001411142]|Hereditary cancer-predisposing syndrome [RCV002258232] | Chr22:28725321 [GRCh38] Chr22:29121309 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter) | single nucleotide variant | Familial cancer of breast [RCV001381774] | Chr22:28699927 [GRCh38] Chr22:29095915 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29120157)_29121088del | deletion | Familial cancer of breast [RCV001377350] | likely pathogenic | |
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs) | duplication | Familial cancer of breast [RCV001387045] | Chr22:28719419..28719420 [GRCh38] Chr22:29115407..29115408 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.908+1540_1095+330del | deletion | Carcinoma of pancreas [RCV001391211]|Familial cancer of breast [RCV003155976]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003441149]|not provided [RCV004697132] | Chr22:28696571..28701965 [GRCh38] Chr22:29092559..29097953 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.174G>A (p.Gly58=) | single nucleotide variant | Familial cancer of breast [RCV001432192] | Chr22:28734548 [GRCh38] Chr22:29130536 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter) | single nucleotide variant | Familial cancer of breast [RCV001384503] | Chr22:28695135 [GRCh38] Chr22:29091123 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) | single nucleotide variant | Familial cancer of breast [RCV001387273]|Hereditary cancer-predisposing syndrome [RCV002395874] | Chr22:28694093 [GRCh38] Chr22:29090081 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer) | deletion | Familial cancer of breast [RCV001382114] | Chr22:28696919..28696929 [GRCh38] Chr22:29092907..29092917 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.545dup (p.Leu183fs) | duplication | Familial cancer of breast [RCV001389227] | Chr22:28725023..28725024 [GRCh38] Chr22:29121011..29121012 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1543-192A>G | single nucleotide variant | not provided [RCV001715019] | Chr22:28688178 [GRCh38] Chr22:29084166 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.445-6T>G | single nucleotide variant | not provided [RCV001590695] | Chr22:28725130 [GRCh38] Chr22:29121118 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1543-411C>T | single nucleotide variant | not provided [RCV001717086] | Chr22:28688397 [GRCh38] Chr22:29084385 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.843T>C (p.Asn281=) | single nucleotide variant | Familial cancer of breast [RCV001472719] | Chr22:28710009 [GRCh38] Chr22:29105997 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1376-376C>G | single nucleotide variant | not provided [RCV001675503] | Chr22:28694493 [GRCh38] Chr22:29090481 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1140C>T (p.Leu380=) | single nucleotide variant | Familial cancer of breast [RCV001462042] | Chr22:28695829 [GRCh38] Chr22:29091817 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.319+4038_319+4043del | microsatellite | not provided [RCV001539169] | Chr22:28730360..28730365 [GRCh38] Chr22:29126348..29126353 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1009-10T>G | single nucleotide variant | Familial cancer of breast [RCV001459737] | Chr22:28696997 [GRCh38] Chr22:29092985 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1009-264T>C | single nucleotide variant | not provided [RCV001537175] | Chr22:28697251 [GRCh38] Chr22:29093239 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1096-320G>A | single nucleotide variant | not provided [RCV001714088] | Chr22:28696193 [GRCh38] Chr22:29092181 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs) | deletion | Breast carcinoma [RCV001663391] | Chr22:28719417..28719418 [GRCh38] Chr22:29115405..29115406 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.908+7A>G | single nucleotide variant | Familial cancer of breast [RCV001463682] | Chr22:28703498 [GRCh38] Chr22:29099486 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+4426= | single nucleotide variant | not provided [RCV001616676] | Chr22:28729977 [GRCh38] Chr22:29125965 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.319+4206T>C | single nucleotide variant | not provided [RCV001714446] | Chr22:28730197 [GRCh38] Chr22:29126185 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.369T>C (p.Tyr123=) | single nucleotide variant | Familial cancer of breast [RCV001456583] | Chr22:28725318 [GRCh38] Chr22:29121306 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1259+5G>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001524454] | Chr22:28695705 [GRCh38] Chr22:29091693 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-7G>A | single nucleotide variant | Familial cancer of breast [RCV001489440] | Chr22:28699944 [GRCh38] Chr22:29095932 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.11:g.28741956G>C | single nucleotide variant | not provided [RCV001685704] | Chr22:28741956 [GRCh38] Chr22:29137944 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) | duplication | Familial cancer of breast [RCV001377751] | Chr22:28689148..28689149 [GRCh38] Chr22:29085136..29085137 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1485T>C (p.Phe495=) | single nucleotide variant | Familial cancer of breast [RCV001441977] | Chr22:28689192 [GRCh38] Chr22:29085180 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1461+7G>T | single nucleotide variant | Familial cancer of breast [RCV001481361] | Chr22:28694025 [GRCh38] Chr22:29090013 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1365C>G (p.Val455=) | single nucleotide variant | Familial cancer of breast [RCV001473130] | Chr22:28695137 [GRCh38] Chr22:29091125 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) | deletion | Familial cancer of breast [RCV001385211]|Hereditary cancer-predisposing syndrome [RCV004037670] | Chr22:28699926..28699927 [GRCh38] Chr22:29095914..29095915 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NC_000022.10:g.(?_29095816)_(29099564_?)del | deletion | Familial cancer of breast [RCV001379895] | Chr22:29095816..29099564 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.687T>C (p.Gly229=) | single nucleotide variant | Familial cancer of breast [RCV001403418] | Chr22:28712014 [GRCh38] Chr22:29108002 [GRCh37] Chr22:22q12.1 |
likely benign |
NC_000022.10:g.(?_29090010)_(29130713_?)del | deletion | Familial cancer of breast [RCV001390749] | Chr22:29090010..29130713 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.294C>G (p.Ala98=) | single nucleotide variant | Familial cancer of breast [RCV001482089] | Chr22:28734428 [GRCh38] Chr22:29130416 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1077del (p.Glu360fs) | deletion | Familial cancer of breast [RCV003500682]|Hereditary cancer-predisposing syndrome [RCV001525729] | Chr22:28696919 [GRCh38] Chr22:29092907 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1008+6dup | duplication | Familial cancer of breast [RCV001451325] | Chr22:28699831..28699832 [GRCh38] Chr22:29095819..29095820 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1449C>T (p.His483=) | single nucleotide variant | Familial cancer of breast [RCV001498249]|Hereditary cancer-predisposing syndrome [RCV002388538] | Chr22:28694044 [GRCh38] Chr22:29090032 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NC_000022.11:g.28741882C>T | single nucleotide variant | Familial cancer of breast [RCV001516877]|not provided [RCV001712926] | Chr22:28741882 [GRCh38] Chr22:29137870 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1008+7G>A | single nucleotide variant | Familial cancer of breast [RCV001465035] | Chr22:28699831 [GRCh38] Chr22:29095819 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.319+9C>T | single nucleotide variant | Familial cancer of breast [RCV001478777] | Chr22:28734394 [GRCh38] Chr22:29130382 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.469del (p.Ile157fs) | deletion | Familial cancer of breast [RCV001388713] | Chr22:28725100 [GRCh38] Chr22:29121088 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter) | single nucleotide variant | Familial cancer of breast [RCV001380137] | Chr22:28710022 [GRCh38] Chr22:29106010 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=) | single nucleotide variant | Familial cancer of breast [RCV001406719] | Chr22:28687978 [GRCh38] Chr22:29083966 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) | single nucleotide variant | Breast and/or ovarian cancer [RCV001799077]|Familial cancer of breast [RCV001383631]|Hereditary cancer-predisposing syndrome [RCV002413913]|not provided [RCV002476725] | Chr22:28734616 [GRCh38] Chr22:29130604 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.24G>A (p.Glu8=) | single nucleotide variant | Familial cancer of breast [RCV001393519]|Hereditary cancer-predisposing syndrome [RCV002432087] | Chr22:28734698 [GRCh38] Chr22:29130686 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.349del (p.Arg117fs) | deletion | Familial cancer of breast [RCV001380163] | Chr22:28725338 [GRCh38] Chr22:29121326 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.735A>G (p.Lys245=) | single nucleotide variant | Familial cancer of breast [RCV001430209] | Chr22:28711966 [GRCh38] Chr22:29107954 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.718del (p.Arg240fs) | deletion | Familial cancer of breast [RCV001385789] | Chr22:28711983 [GRCh38] Chr22:29107971 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=) | single nucleotide variant | Familial cancer of breast [RCV001466405] | Chr22:28695194 [GRCh38] Chr22:29091182 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1260-6A>G | single nucleotide variant | Familial cancer of breast [RCV002070301]|Hereditary cancer-predisposing syndrome [RCV001524107] | Chr22:28695248 [GRCh38] Chr22:29091236 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.331G>A (p.Asp111Asn) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001524134] | Chr22:28725356 [GRCh38] Chr22:29121344 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-2_857del | deletion | Familial cancer of breast [RCV003500676]|Hereditary breast ovarian cancer syndrome [RCV005408941]|Hereditary cancer-predisposing syndrome [RCV001524248] | Chr22:28703556..28703568 [GRCh38] Chr22:29099544..29099556 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.33del (p.Gln11fs) | deletion | Familial cancer of breast [RCV001384107] | Chr22:28734689 [GRCh38] Chr22:29130677 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.847-12_847-2del | deletion | Familial cancer of breast [RCV005208738]|Gastric cancer [RCV003169933] | Chr22:28703568..28703578 [GRCh38] Chr22:29099556..29099566 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NC_000022.10:g.(?_29115373)_(29121365_?)del | deletion | Familial cancer of breast [RCV001380364] | Chr22:29115373..29121365 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter) | single nucleotide variant | Familial cancer of breast [RCV001389704] | Chr22:28695814 [GRCh38] Chr22:29091802 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter) | single nucleotide variant | Familial cancer of breast [RCV001384342] | Chr22:28694061 [GRCh38] Chr22:29090049 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.201C>T (p.Ser67=) | single nucleotide variant | Familial cancer of breast [RCV001468193] | Chr22:28734521 [GRCh38] Chr22:29130509 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1332del (p.Lys444fs) | deletion | Familial cancer of breast [RCV001386208] | Chr22:28695170 [GRCh38] Chr22:29091158 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1248del (p.Leu417fs) | deletion | Familial cancer of breast [RCV001384863] | Chr22:28695721 [GRCh38] Chr22:29091709 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) | deletion | Familial cancer of breast [RCV001379781] | Chr22:28689144 [GRCh38] Chr22:29085132 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter) | single nucleotide variant | Familial cancer of breast [RCV001390193] | Chr22:28711914 [GRCh38] Chr22:29107902 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.63C>T (p.Pro21=) | single nucleotide variant | Familial cancer of breast [RCV001450498] | Chr22:28734659 [GRCh38] Chr22:29130647 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1543-11_1543-2del | deletion | Familial cancer of breast [RCV001728027]|Hereditary cancer-predisposing syndrome [RCV003365440]|not provided [RCV003321868] | Chr22:28687988..28687997 [GRCh38] Chr22:29083976..29083985 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.489C>T (p.His163=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258748] | Chr22:28725080 [GRCh38] Chr22:29121068 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1518A>C (p.Thr506=) | single nucleotide variant | Familial cancer of breast [RCV005246138] | Chr22:28689159 [GRCh38] Chr22:29085147 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.*9G>C | single nucleotide variant | Familial cancer of breast [RCV005246164] | Chr22:28687888 [GRCh38] Chr22:29083876 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.444+8A>T | single nucleotide variant | Familial cancer of breast [RCV005246187] | Chr22:28725235 [GRCh38] Chr22:29121223 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.909-20G>C | single nucleotide variant | Familial cancer of breast [RCV005246247] | Chr22:28699957 [GRCh38] Chr22:29095945 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1008+7del | deletion | Familial cancer of breast [RCV005246259] | Chr22:28699831 [GRCh38] Chr22:29095819 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1479A>G (p.Arg493=) | single nucleotide variant | Familial cancer of breast [RCV005246262]|Hereditary cancer-predisposing syndrome [RCV005315859] | Chr22:28689198 [GRCh38] Chr22:29085186 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.-6-13C>T | single nucleotide variant | Familial cancer of breast [RCV005249912] | Chr22:28734740 [GRCh38] Chr22:29130728 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1543-11T>C | single nucleotide variant | Familial cancer of breast [RCV005246281] | Chr22:28687997 [GRCh38] Chr22:29083985 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1254T>C (p.Phe418=) | single nucleotide variant | Familial cancer of breast [RCV005246428] | Chr22:28695715 [GRCh38] Chr22:29091703 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.801T>C (p.Ala267=) | single nucleotide variant | Familial cancer of breast [RCV005247841] | Chr22:28710051 [GRCh38] Chr22:29106039 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1543-8A>G | single nucleotide variant | Familial cancer of breast [RCV005247851] | Chr22:28687994 [GRCh38] Chr22:29083982 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1341C>T (p.Phe447=) | single nucleotide variant | Familial cancer of breast [RCV005247852] | Chr22:28695161 [GRCh38] Chr22:29091149 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1260-11C>T | single nucleotide variant | Familial cancer of breast [RCV005247881] | Chr22:28695253 [GRCh38] Chr22:29091241 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1494T>G (p.Leu498=) | single nucleotide variant | Familial cancer of breast [RCV005249881] | Chr22:28689183 [GRCh38] Chr22:29085171 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.1512A>G (p.Glu504=) | single nucleotide variant | Familial cancer of breast [RCV005249891] | Chr22:28689165 [GRCh38] Chr22:29085153 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.-6-14A>G | single nucleotide variant | Familial cancer of breast [RCV005249945] | Chr22:28734741 [GRCh38] Chr22:29130729 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.222T>A (p.Ile74=) | single nucleotide variant | Familial cancer of breast [RCV005249952] | Chr22:28734500 [GRCh38] Chr22:29130488 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.*6G>C | single nucleotide variant | Familial cancer of breast [RCV005249977] | Chr22:28687891 [GRCh38] Chr22:29083879 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.348G>A (p.Gly116=) | single nucleotide variant | Familial cancer of breast [RCV005249906] | Chr22:28725339 [GRCh38] Chr22:29121327 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.909-13C>T | single nucleotide variant | Familial cancer of breast [RCV005249927] | Chr22:28699950 [GRCh38] Chr22:29095938 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.445-13T>C | single nucleotide variant | Familial cancer of breast [RCV005249953] | Chr22:28725137 [GRCh38] Chr22:29121125 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1375+26T>C | single nucleotide variant | not provided [RCV001730420]|not specified [RCV003320487] | Chr22:28695101 [GRCh38] Chr22:29091089 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1244T>C (p.Val415Ala) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003293691] | Chr22:28695725 [GRCh38] Chr22:29091713 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.232C>G (p.Gln78Glu) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV003293693] | Chr22:28734490 [GRCh38] Chr22:29130478 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.369T>G (p.Tyr123Ter) | single nucleotide variant | Familial cancer of breast [RCV005121957] | Chr22:28725318 [GRCh38] Chr22:29121306 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1336A>C (p.Asn446His) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002258743] | Chr22:28695166 [GRCh38] Chr22:29091154 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.348G>T (p.Gly116=) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002259293] | Chr22:28725339 [GRCh38] Chr22:29121327 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.72C>A (p.Ser24Arg) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002259294] | Chr22:28734650 [GRCh38] Chr22:29130638 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.791C>T (p.Ala264Val) | single nucleotide variant | not provided [RCV001768061] | Chr22:28711910 [GRCh38] Chr22:29107898 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.293C>A (p.Ala98Asp) | single nucleotide variant | not provided [RCV001786055] | Chr22:28734429 [GRCh38] Chr22:29130417 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1163C>A (p.Pro388His) | single nucleotide variant | not provided [RCV001766272] | Chr22:28695806 [GRCh38] Chr22:29091794 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+81del | deletion | Familial cancer of breast [RCV002544352]|not specified [RCV001797927] | Chr22:28724896 [GRCh38] Chr22:29120884 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV002386567]|not provided [RCV001795637] | Chr22:28699863 [GRCh38] Chr22:29095851 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1425dup (p.Thr476fs) | duplication | not provided [RCV001780775] | Chr22:28694067..28694068 [GRCh38] Chr22:29090055..29090056 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.276_303delinsTGGCCCTTCA (p.Trp93_Asp101delinsGlyProSer) | indel | not provided [RCV001776747] | Chr22:28734419..28734446 [GRCh38] Chr22:29130407..29130434 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr) | single nucleotide variant | not provided [RCV001801119] | Chr22:28695744 [GRCh38] Chr22:29091732 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-7+2398dup | duplication | not provided [RCV001733258] | Chr22:28739370..28739371 [GRCh38] Chr22:29135358..29135359 [GRCh37] Chr22:22q12.1 |
benign |
NM_007194.4(CHEK2):c.646T>G (p.Leu216Val) | single nucleotide variant | not provided [RCV001776809] | Chr22:28719432 [GRCh38] Chr22:29115420 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1235G>C (p.Ser412Thr) | single nucleotide variant | not provided [RCV001777068] | Chr22:28695734 [GRCh38] Chr22:29091722 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.55T>A (p.Ser19Thr) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001805247] | Chr22:28734667 [GRCh38] Chr22:29130655 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.208del (p.Glu70fs) | deletion | not provided [RCV001806495] | Chr22:28734514 [GRCh38] Chr22:29130502 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) | deletion | Familial cancer of breast [RCV001869797]|not provided [RCV001818020] | Chr22:28695764..28695768 [GRCh38] Chr22:29091752..29091756 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.346G>C (p.Gly116Arg) | single nucleotide variant | not specified [RCV001822640] | Chr22:28725341 [GRCh38] Chr22:29121329 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.-6-6_-6-4del | deletion | Hereditary cancer-predisposing syndrome [RCV001804517] | Chr22:28734731..28734733 [GRCh38] Chr22:29130719..29130721 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1237_1238insG (p.Leu413fs) | insertion | Hereditary cancer-predisposing syndrome [RCV004607842] | Chr22:28695731..28695732 [GRCh38] Chr22:29091719..29091720 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.683+3A>C | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV004607844] | Chr22:28719392 [GRCh38] Chr22:29115380 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.136A>G (p.Met46Val) | single nucleotide variant | Hereditary cancer-predisposing syndrome [RCV001805648] | Chr22:28734586 [GRCh38] Chr22:29130574 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.908+4A>G | single nucleotide variant | Familial cancer of breast [RCV002001649] | Chr22:28703501 [GRCh38] Chr22:29099489 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1569_1582dup (p.Glu528fs) | duplication | Familial cancer of breast [RCV001907723] | Chr22:28687946..28687947 [GRCh38] Chr22:29083934..29083935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.447A>G (p.Glu149=) | single nucleotide variant | Familial cancer of breast [RCV001971375] | Chr22:28725122 [GRCh38] Chr22:29121110 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1025G>A (p.Gly342Asp) | single nucleotide variant | Familial cancer of breast [RCV001965983] | Chr22:28696971 [GRCh38] Chr22:29092959 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.461A>T (p.Asn154Ile) | single nucleotide variant | Familial cancer of breast [RCV001947255]|Hereditary cancer-predisposing syndrome [RCV003164180] | Chr22:28725108 [GRCh38] Chr22:29121096 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) | deletion | Familial cancer of breast [RCV001864650]|Hereditary cancer-predisposing syndrome [RCV002386634] | Chr22:28695196 [GRCh38] Chr22:29091184 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1280T>A (p.Phe427Tyr) | single nucleotide variant | Familial cancer of breast [RCV001971071] | Chr22:28695222 [GRCh38] Chr22:29091210 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1177C>T (p.Pro393Ser) | single nucleotide variant | Familial cancer of breast [RCV001971074]|Hereditary cancer-predisposing syndrome [RCV004042251] | Chr22:28695792 [GRCh38] Chr22:29091780 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.808G>C (p.Val270Leu) | single nucleotide variant | Familial cancer of breast [RCV001915591]|Hereditary cancer-predisposing syndrome [RCV002423013] | Chr22:28710044 [GRCh38] Chr22:29106032 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) | microsatellite | Familial cancer of breast [RCV002044041] | Chr22:28689153..28689154 [GRCh38] Chr22:29085141..29085142 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter) | single nucleotide variant | Familial cancer of breast [RCV001928907] | Chr22:28725270 [GRCh38] Chr22:29121258 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.713T>C (p.Phe238Ser) | single nucleotide variant | Familial cancer of breast [RCV001964628] | Chr22:28711988 [GRCh38] Chr22:29107976 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.29A>T (p.Gln10Leu) | single nucleotide variant | Familial cancer of breast [RCV001889528] | Chr22:28734693 [GRCh38] Chr22:29130681 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1341del (p.Phe447fs) | deletion | Familial cancer of breast [RCV001863830] | Chr22:28695161 [GRCh38] Chr22:29091149 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.271G>C (p.Ala91Pro) | single nucleotide variant | Familial cancer of breast [RCV002009102] | Chr22:28734451 [GRCh38] Chr22:29130439 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1042T>G (p.Leu348Val) | single nucleotide variant | Familial cancer of breast [RCV001969071] | Chr22:28696954 [GRCh38] Chr22:29092942 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+19G>A | single nucleotide variant | Familial cancer of breast [RCV002043191] | Chr22:28724958 [GRCh38] Chr22:29120946 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1516A>C (p.Thr506Pro) | single nucleotide variant | Familial cancer of breast [RCV001971310] | Chr22:28689161 [GRCh38] Chr22:29085149 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1495C>A (p.Leu499Met) | single nucleotide variant | Familial cancer of breast [RCV002044106] | Chr22:28689182 [GRCh38] Chr22:29085170 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.218C>G (p.Ser73Cys) | single nucleotide variant | Familial cancer of breast [RCV001928612] | Chr22:28734504 [GRCh38] Chr22:29130492 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+2T>C | single nucleotide variant | Familial cancer of breast [RCV001986482] | Chr22:28696899 [GRCh38] Chr22:29092887 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.10:g.(?_29084253)_(29085958_?)del | deletion | Familial cancer of breast [RCV001987420] | Chr22:29084253..29085958 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.70A>C (p.Ser24Arg) | single nucleotide variant | Familial cancer of breast [RCV001987818] | Chr22:28734652 [GRCh38] Chr22:29130640 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe) | single nucleotide variant | Familial cancer of breast [RCV001895468] | Chr22:28687913 [GRCh38] Chr22:29083901 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) | single nucleotide variant | Familial cancer of breast [RCV001984098]|Hereditary cancer-predisposing syndrome [RCV002458951]|not provided [RCV002280201] | Chr22:28695867 [GRCh38] Chr22:29091855 [GRCh37] Chr22:22q12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer) | duplication | Familial cancer of breast [RCV002007208] | Chr22:28695735..28695736 [GRCh38] Chr22:29091723..29091724 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1121T>C (p.Ile374Thr) | single nucleotide variant | Familial cancer of breast [RCV001895658] | Chr22:28695848 [GRCh38] Chr22:29091836 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter) | single nucleotide variant | Familial cancer of breast [RCV001873842] | Chr22:28725324 [GRCh38] Chr22:29121312 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.158C>T (p.Ser53Phe) | single nucleotide variant | Familial cancer of breast [RCV002043789] | Chr22:28734564 [GRCh38] Chr22:29130552 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+16_846+17insTTACATACTTAGATTTATTATTATACTTACATACTTA | insertion | Familial cancer of breast [RCV001929020] | Chr22:28709989..28709990 [GRCh38] Chr22:29105977..29105978 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.764A>G (p.Lys255Arg) | single nucleotide variant | Familial cancer of breast [RCV001927209] | Chr22:28711937 [GRCh38] Chr22:29107925 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.644del (p.Ala215fs) | deletion | Familial cancer of breast [RCV001912768] | Chr22:28719434 [GRCh38] Chr22:29115422 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.714C>G (p.Phe238Leu) | single nucleotide variant | Familial cancer of breast [RCV002040306]|Hereditary cancer-predisposing syndrome [RCV003161183] | Chr22:28711987 [GRCh38] Chr22:29107975 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.760del (p.Arg254fs) | deletion | Familial cancer of breast [RCV001890326] | Chr22:28711941 [GRCh38] Chr22:29107929 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1213A>T (p.Asn405Tyr) | single nucleotide variant | Familial cancer of breast [RCV001983532] | Chr22:28695756 [GRCh38] Chr22:29091744 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-5T>A | single nucleotide variant | Familial cancer of breast [RCV002005522]|Hereditary cancer-predisposing syndrome [RCV004043239] | Chr22:28699942 [GRCh38] Chr22:29095930 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.518A>T (p.Glu173Val) | single nucleotide variant | Familial cancer of breast [RCV001946244] | Chr22:28725051 [GRCh38] Chr22:29121039 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1384C>T (p.Leu462Phe) | single nucleotide variant | Familial cancer of breast [RCV002006521]|Hereditary cancer-predisposing syndrome [RCV004946998] | Chr22:28694109 [GRCh38] Chr22:29090097 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs) | duplication | Familial cancer of breast [RCV001967626] | Chr22:28695860..28695861 [GRCh38] Chr22:29091848..29091849 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs) | duplication | Familial cancer of breast [RCV001947848] | Chr22:28696959..28696960 [GRCh38] Chr22:29092947..29092948 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1321A>C (p.Thr441Pro) | single nucleotide variant | Familial cancer of breast [RCV001872213]|Hereditary cancer-predisposing syndrome [RCV002386614] | Chr22:28695181 [GRCh38] Chr22:29091169 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1406T>G (p.Val469Gly) | single nucleotide variant | Familial cancer of breast [RCV001968988]|Hereditary cancer-predisposing syndrome [RCV002388956] | Chr22:28694087 [GRCh38] Chr22:29090075 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.993G>A (p.Met331Ile) | single nucleotide variant | Familial cancer of breast [RCV002042417] | Chr22:28699853 [GRCh38] Chr22:29095841 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.992T>A (p.Met331Lys) | single nucleotide variant | Familial cancer of breast [RCV001983861] | Chr22:28699854 [GRCh38] Chr22:29095842 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln) | single nucleotide variant | Familial cancer of breast [RCV002002238] | Chr22:28687929 [GRCh38] Chr22:29083917 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.504del (p.Phe169fs) | deletion | Familial cancer of breast [RCV001893148] | Chr22:28725065 [GRCh38] Chr22:29121053 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1012C>G (p.Leu338Val) | single nucleotide variant | Familial cancer of breast [RCV001912217] | Chr22:28696984 [GRCh38] Chr22:29092972 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.803T>C (p.Leu268Pro) | single nucleotide variant | Familial cancer of breast [RCV002021575] | Chr22:28710049 [GRCh38] Chr22:29106037 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1095+2T>A | single nucleotide variant | Familial cancer of breast [RCV002041727] | Chr22:28696899 [GRCh38] Chr22:29092887 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.272C>T (p.Ala91Val) | single nucleotide variant | Familial cancer of breast [RCV001890460]|Hereditary cancer-predisposing syndrome [RCV004041271] | Chr22:28734450 [GRCh38] Chr22:29130438 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1159A>T (p.Thr387Ser) | single nucleotide variant | Familial cancer of breast [RCV002041274] | Chr22:28695810 [GRCh38] Chr22:29091798 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1576G>T (p.Glu526Ter) | single nucleotide variant | Familial cancer of breast [RCV001928429] | Chr22:28687953 [GRCh38] Chr22:29083941 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.371G>C (p.Cys124Ser) | single nucleotide variant | Familial cancer of breast [RCV001863351] | Chr22:28725316 [GRCh38] Chr22:29121304 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.320-2A>G | single nucleotide variant | Familial cancer of breast [RCV002006620] | Chr22:28725369 [GRCh38] Chr22:29121357 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs) | duplication | Familial cancer of breast [RCV001985253] | Chr22:28696901..28696902 [GRCh38] Chr22:29092889..29092890 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.923A>G (p.Glu308Gly) | single nucleotide variant | Familial cancer of breast [RCV002040526]|Hereditary cancer-predisposing syndrome [RCV002370705] | Chr22:28699923 [GRCh38] Chr22:29095911 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1204G>T (p.Ala402Ser) | single nucleotide variant | Familial cancer of breast [RCV001969574] | Chr22:28695765 [GRCh38] Chr22:29091753 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1382A>C (p.Asp461Ala) | single nucleotide variant | Familial cancer of breast [RCV001913368] | Chr22:28694111 [GRCh38] Chr22:29090099 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.372C>G (p.Cys124Trp) | single nucleotide variant | Familial cancer of breast [RCV001872679] | Chr22:28725315 [GRCh38] Chr22:29121303 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.739G>C (p.Ala247Pro) | single nucleotide variant | Familial cancer of breast [RCV002042403] | Chr22:28711962 [GRCh38] Chr22:29107950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1567dup (p.Arg523fs) | duplication | Familial cancer of breast [RCV001894803] | Chr22:28687961..28687962 [GRCh38] Chr22:29083949..29083950 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer) | deletion | Familial cancer of breast [RCV001969980] | Chr22:28734534 [GRCh38] Chr22:29130522 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1461+3G>C | single nucleotide variant | Familial cancer of breast [RCV001964791] | Chr22:28694029 [GRCh38] Chr22:29090017 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1279T>A (p.Phe427Ile) | single nucleotide variant | Familial cancer of breast [RCV001985540]|Hereditary cancer-predisposing syndrome [RCV004044450] | Chr22:28695223 [GRCh38] Chr22:29091211 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs) | duplication | Familial cancer of breast [RCV001946898]|not provided [RCV003321887] | Chr22:28695137..28695138 [GRCh38] Chr22:29091125..29091126 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1021A>G (p.Asn341Asp) | single nucleotide variant | Familial cancer of breast [RCV002003231] | Chr22:28696975 [GRCh38] Chr22:29092963 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs) | deletion | Familial cancer of breast [RCV001949025] | Chr22:28699840..28699850 [GRCh38] Chr22:29095828..29095838 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.723A>C (p.Lys241Asn) | single nucleotide variant | Familial cancer of breast [RCV001987165]|Hereditary cancer-predisposing syndrome [RCV005321002] | Chr22:28711978 [GRCh38] Chr22:29107966 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1116del (p.Lys373fs) | deletion | Familial cancer of breast [RCV002039751] | Chr22:28695853 [GRCh38] Chr22:29091841 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) | deletion | Familial cancer of breast [RCV001966858] | Chr22:28689137 [GRCh38] Chr22:29085125 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.911T>G (p.Met304Arg) | single nucleotide variant | Familial cancer of breast [RCV001968724] | Chr22:28699935 [GRCh38] Chr22:29095923 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs) | deletion | Familial cancer of breast [RCV001967957] | Chr22:28734687..28734690 [GRCh38] Chr22:29130675..29130678 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.909-4del | deletion | Familial cancer of breast [RCV001893477] | Chr22:28699941 [GRCh38] Chr22:29095929 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu) | single nucleotide variant | Familial cancer of breast [RCV001913215]|Hereditary cancer-predisposing syndrome [RCV002386697] | Chr22:28695163 [GRCh38] Chr22:29091151 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1243G>T (p.Val415Phe) | single nucleotide variant | Familial cancer of breast [RCV002022050] | Chr22:28695726 [GRCh38] Chr22:29091714 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1560G>C (p.Lys520Asn) | single nucleotide variant | Familial cancer of breast [RCV001965937] | Chr22:28687969 [GRCh38] Chr22:29083957 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+2T>A | single nucleotide variant | Familial cancer of breast [RCV002021691]|Hereditary cancer-predisposing syndrome [RCV003161271] | Chr22:28719393 [GRCh38] Chr22:29115381 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.319+2T>G | single nucleotide variant | Familial cancer of breast [RCV002005191] | Chr22:28734401 [GRCh38] Chr22:29130389 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1271A>G (p.Tyr424Cys) | single nucleotide variant | Familial cancer of breast [RCV002041663] | Chr22:28695231 [GRCh38] Chr22:29091219 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29099483)_(29115483_?)dup | duplication | Familial cancer of breast [RCV002041007] | Chr22:29099483..29115483 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1299_1300delinsGT (p.Val434Leu) | indel | Familial cancer of breast [RCV001969138] | Chr22:28695202..28695203 [GRCh38] Chr22:29091190..29091191 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg) | single nucleotide variant | Familial cancer of breast [RCV001890021]|Hereditary cancer-predisposing syndrome [RCV002397825] | Chr22:28687899 [GRCh38] Chr22:29083887 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg) | single nucleotide variant | Familial cancer of breast [RCV001964652] | Chr22:28699911 [GRCh38] Chr22:29095899 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.473_475dup (p.Ala158_Tyr159insSer) | duplication | Familial cancer of breast [RCV001889963] | Chr22:28725093..28725094 [GRCh38] Chr22:29121081..29121082 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1472T>G (p.Met491Arg) | single nucleotide variant | Familial cancer of breast [RCV001966472] | Chr22:28689205 [GRCh38] Chr22:29085193 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.101A>G (p.Gln34Arg) | single nucleotide variant | Familial cancer of breast [RCV001908661] | Chr22:28734621 [GRCh38] Chr22:29130609 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1141A>T (p.Met381Leu) | single nucleotide variant | Familial cancer of breast [RCV001908917] | Chr22:28695828 [GRCh38] Chr22:29091816 [GRCh37] Chr22:22q12.1 |
uncertain significance |
GRCh37/hg19 22q12.1(chr22:29115517-29146612) | copy number loss | not specified [RCV002052747] | Chr22:29115517..29146612 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.519G>C (p.Glu173Asp) | single nucleotide variant | Familial cancer of breast [RCV002003030] | Chr22:28725050 [GRCh38] Chr22:29121038 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1258T>C (p.Cys420Arg) | single nucleotide variant | Familial cancer of breast [RCV001961293] | Chr22:28695711 [GRCh38] Chr22:29091699 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29130713)_(30000111_?)del | deletion | Neurofibromatosis, type 2 [RCV001982188] | Chr22:29130713..30000111 [GRCh37] Chr22:22q12.1-12.2 |
pathogenic |
NM_007194.4(CHEK2):c.253C>A (p.Pro85Thr) | single nucleotide variant | Familial cancer of breast [RCV002037037] | Chr22:28734469 [GRCh38] Chr22:29130457 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.16del (p.Asp6fs) | deletion | CHEK2-related disorder [RCV004538646]|Familial cancer of breast [RCV001944007]|Hereditary cancer-predisposing syndrome [RCV002407111]|not provided [RCV004999554] | Chr22:28734706 [GRCh38] Chr22:29130694 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.94del (p.Ser32fs) | deletion | Familial cancer of breast [RCV001942107] | Chr22:28734628 [GRCh38] Chr22:29130616 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.79del (p.Gln27fs) | deletion | Familial cancer of breast [RCV001916459]|Hereditary cancer-predisposing syndrome [RCV005320959] | Chr22:28734643 [GRCh38] Chr22:29130631 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.395G>T (p.Arg132Ile) | single nucleotide variant | Familial cancer of breast [RCV002011652] | Chr22:28725292 [GRCh38] Chr22:29121280 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1379del (p.Leu460fs) | deletion | Familial cancer of breast [RCV001919100] | Chr22:28694114 [GRCh38] Chr22:29090102 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1208G>A (p.Gly403Glu) | single nucleotide variant | Familial cancer of breast [RCV001880345]|Hereditary cancer-predisposing syndrome [RCV002343896] | Chr22:28695761 [GRCh38] Chr22:29091749 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) | duplication | Familial cancer of breast [RCV001999759] | Chr22:28725080..28725081 [GRCh38] Chr22:29121068..29121069 [GRCh37] Chr22:22q12.1 |
pathogenic |
NC_000022.10:g.(?_29099483)_(29108015_?)dup | duplication | Familial cancer of breast [RCV001944415] | Chr22:29099483..29108015 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29120157)_(29121086_?)del | deletion | Familial cancer of breast [RCV002027104] | Chr22:29120157..29121086 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1249C>G (p.Leu417Val) | single nucleotide variant | Familial cancer of breast [RCV001899453]|Hereditary cancer-predisposing syndrome [RCV003355592] | Chr22:28695720 [GRCh38] Chr22:29091708 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1226A>T (p.Asp409Val) | single nucleotide variant | Familial cancer of breast [RCV001935420] | Chr22:28695743 [GRCh38] Chr22:29091731 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) | single nucleotide variant | Familial cancer of breast [RCV001903804]|Hereditary cancer-predisposing syndrome [RCV003365539]|Hereditary nonpolyposis colon cancer [RCV005370025] | Chr22:28695167 [GRCh38] Chr22:29091155 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.90CTC[2] (p.Ser33del) | microsatellite | Familial cancer of breast [RCV001980419] | Chr22:28734624..28734626 [GRCh38] Chr22:29130612..29130614 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1552A>C (p.Ser518Arg) | single nucleotide variant | Familial cancer of breast [RCV001941281]|Hereditary cancer-predisposing syndrome [RCV003355674] | Chr22:28687977 [GRCh38] Chr22:29083965 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1253T>G (p.Phe418Cys) | single nucleotide variant | Familial cancer of breast [RCV002051222] | Chr22:28695716 [GRCh38] Chr22:29091704 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.226G>C (p.Glu76Gln) | single nucleotide variant | Familial cancer of breast [RCV001904157] | Chr22:28734496 [GRCh38] Chr22:29130484 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.680G>T (p.Gly227Val) | single nucleotide variant | Familial cancer of breast [RCV001904179] | Chr22:28719398 [GRCh38] Chr22:29115386 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.593T>G (p.Val198Gly) | single nucleotide variant | Familial cancer of breast [RCV001915736]|Hereditary cancer-predisposing syndrome [RCV004042699] | Chr22:28719485 [GRCh38] Chr22:29115473 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg) | single nucleotide variant | Familial cancer of breast [RCV000693431]|not provided [RCV003886431] | Chr22:28699903 [GRCh38] Chr22:29095891 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys) | single nucleotide variant | Familial cancer of breast [RCV000687260]|Hereditary cancer-predisposing syndrome [RCV001017138] | Chr22:28696945 [GRCh38] Chr22:29092933 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.847-7T>C | single nucleotide variant | Familial cancer of breast [RCV000924571]|Hereditary cancer-predisposing syndrome [RCV001181721] | Chr22:28703573 [GRCh38] Chr22:29099561 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1260-1G>T | single nucleotide variant | Familial cancer of breast [RCV001042893] | Chr22:28695243 [GRCh38] Chr22:29091231 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.181A>C (p.Ser61Arg) | single nucleotide variant | Familial cancer of breast [RCV001042898] | Chr22:28734541 [GRCh38] Chr22:29130529 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.199del (p.Ser67fs) | deletion | Familial cancer of breast [RCV001042949] | Chr22:28734523 [GRCh38] Chr22:29130511 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.445-2A>G | single nucleotide variant | Familial cancer of breast [RCV000809261]|Hereditary cancer-predisposing syndrome [RCV000777349] | Chr22:28725126 [GRCh38] Chr22:29121114 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.847-33_847-14del | deletion | Hereditary cancer-predisposing syndrome [RCV000777449] | Chr22:28703580..28703599 [GRCh38] Chr22:29099568..29099587 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.793-12T>G | single nucleotide variant | Familial cancer of breast [RCV003117569]|Hereditary cancer-predisposing syndrome [RCV000777551] | Chr22:28710071 [GRCh38] Chr22:29106059 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.319+179A>G | single nucleotide variant | not provided [RCV000842990] | Chr22:28734224 [GRCh38] Chr22:29130212 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=) | single nucleotide variant | Familial cancer of breast [RCV001470651]|Hereditary cancer-predisposing syndrome [RCV001010826] | Chr22:28695167 [GRCh38] Chr22:29091155 [GRCh37] Chr22:22q12.1 |
benign|likely benign |
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala) | single nucleotide variant | Familial cancer of breast [RCV001234042]|not specified [RCV004596427] | Chr22:28695860 [GRCh38] Chr22:29091848 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.701T>G (p.Val234Gly) | single nucleotide variant | Familial cancer of breast [RCV001226909] | Chr22:28712000 [GRCh38] Chr22:29107988 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.444_444+1del | deletion | Familial cancer of breast [RCV001212742] | Chr22:28725242..28725243 [GRCh38] Chr22:29121230..29121231 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys) | single nucleotide variant | Familial cancer of breast [RCV001350466]|Hereditary cancer-predisposing syndrome [RCV001020686] | Chr22:28734687 [GRCh38] Chr22:29130675 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg) | single nucleotide variant | Familial cancer of breast [RCV001035365]|Hereditary cancer-predisposing syndrome [RCV002391090] | Chr22:28694040 [GRCh38] Chr22:29090028 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu) | single nucleotide variant | Familial cancer of breast [RCV001049617]|Hereditary cancer-predisposing syndrome [RCV002348390]|not provided [RCV001759777] | Chr22:28725046 [GRCh38] Chr22:29121034 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083885)_(29121365_?)dup | duplication | Familial cancer of breast [RCV001362897] | Chr22:29083885..29121365 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1109G>T (p.Gly370Val) | single nucleotide variant | Familial cancer of breast [RCV001302629] | Chr22:28695860 [GRCh38] Chr22:29091848 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1575G>C (p.Gly525=) | single nucleotide variant | Familial cancer of breast [RCV001412857] | Chr22:28687954 [GRCh38] Chr22:29083942 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.368_382del (p.Tyr123_Pro128delinsSer) | deletion | Familial cancer of breast [RCV001949191] | Chr22:28725305..28725319 [GRCh38] Chr22:29121293..29121307 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.865_876del (p.Lys289_Phe292del) | deletion | Familial cancer of breast [RCV002048622] | Chr22:28703537..28703548 [GRCh38] Chr22:29099525..29099536 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.229G>A (p.Asp77Asn) | single nucleotide variant | Familial cancer of breast [RCV001977281] | Chr22:28734493 [GRCh38] Chr22:29130481 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1073A>G (p.Gln358Arg) | single nucleotide variant | Familial cancer of breast [RCV002038677]|Hereditary cancer-predisposing syndrome [RCV004947061] | Chr22:28696923 [GRCh38] Chr22:29092911 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.974A>G (p.Lys325Arg) | single nucleotide variant | Familial cancer of breast [RCV001904784] | Chr22:28699872 [GRCh38] Chr22:29095860 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1021A>C (p.Asn341His) | single nucleotide variant | Familial cancer of breast [RCV001962657] | Chr22:28696975 [GRCh38] Chr22:29092963 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1328G>A (p.Gly443Glu) | single nucleotide variant | Familial cancer of breast [RCV001881205]|Hereditary cancer-predisposing syndrome [RCV002386645] | Chr22:28695174 [GRCh38] Chr22:29091162 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1380G>A (p.Leu460=) | single nucleotide variant | Familial cancer of breast [RCV002018571] | Chr22:28694113 [GRCh38] Chr22:29090101 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1154G>C (p.Cys385Ser) | single nucleotide variant | Familial cancer of breast [RCV001884826] | Chr22:28695815 [GRCh38] Chr22:29091803 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.903_908+26del | deletion | Familial cancer of breast [RCV002039188] | Chr22:28703479..28703510 [GRCh38] Chr22:29099467..29099498 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.320-3C>G | single nucleotide variant | Familial cancer of breast [RCV001886913] | Chr22:28725370 [GRCh38] Chr22:29121358 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs) | deletion | Familial cancer of breast [RCV001899888] | Chr22:28711926..28711927 [GRCh38] Chr22:29107914..29107915 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.164C>G (p.Ser55Cys) | single nucleotide variant | Familial cancer of breast [RCV001888833] | Chr22:28734558 [GRCh38] Chr22:29130546 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.743dup (p.Ile250fs) | duplication | Familial cancer of breast [RCV002000088] | Chr22:28711957..28711958 [GRCh38] Chr22:29107945..29107946 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1170del (p.Leu391fs) | deletion | Familial cancer of breast [RCV001994829] | Chr22:28695799 [GRCh38] Chr22:29091787 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter) | single nucleotide variant | Familial cancer of breast [RCV002037950]|Hereditary cancer-predisposing syndrome [RCV002324401] | Chr22:28725279 [GRCh38] Chr22:29121267 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1115C>A (p.Ser372Tyr) | single nucleotide variant | Familial cancer of breast [RCV001887559] | Chr22:28695854 [GRCh38] Chr22:29091842 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083885)_(29095935_?)dup | duplication | Familial cancer of breast [RCV001996961] | Chr22:29083885..29095935 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1346C>T (p.Pro449Leu) | single nucleotide variant | Familial cancer of breast [RCV001887080] | Chr22:28695156 [GRCh38] Chr22:29091144 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.742A>T (p.Ile248Leu) | single nucleotide variant | Familial cancer of breast [RCV002037494] | Chr22:28711959 [GRCh38] Chr22:29107947 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.804_818del (p.Asn269_Glu273del) | deletion | Familial cancer of breast [RCV002047734] | Chr22:28710034..28710048 [GRCh38] Chr22:29106022..29106036 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.793-8T>G | single nucleotide variant | Familial cancer of breast [RCV001994916] | Chr22:28710067 [GRCh38] Chr22:29106055 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.1246del (p.Ile416fs) | deletion | Familial cancer of breast [RCV001941658] | Chr22:28695723 [GRCh38] Chr22:29091711 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.995T>A (p.Leu332His) | single nucleotide variant | Familial cancer of breast [RCV001887958] | Chr22:28699851 [GRCh38] Chr22:29095839 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1418C>G (p.Ala473Gly) | single nucleotide variant | Familial cancer of breast [RCV001963616] | Chr22:28694075 [GRCh38] Chr22:29090063 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29121102)_(29125325_?)del | deletion | Familial cancer of breast [RCV001975044] | Chr22:29121102..29125325 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.909-3del | deletion | Familial cancer of breast [RCV002029278] | Chr22:28699940 [GRCh38] Chr22:29095928 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1091T>A (p.Ile364Lys) | single nucleotide variant | Familial cancer of breast [RCV001887978] | Chr22:28696905 [GRCh38] Chr22:29092893 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-5T>C | single nucleotide variant | Familial cancer of breast [RCV001980174] | Chr22:28725129 [GRCh38] Chr22:29121117 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) | duplication | Familial cancer of breast [RCV001877342]|Hereditary cancer-predisposing syndrome [RCV002406971] | Chr22:28711924..28711925 [GRCh38] Chr22:29107912..29107913 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile) | single nucleotide variant | CHEK2-related disorder [RCV004529031]|Familial cancer of breast [RCV001902067] | Chr22:28687979 [GRCh38] Chr22:29083967 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs) | deletion | Familial cancer of breast [RCV001881696] | Chr22:28695845..28695846 [GRCh38] Chr22:29091833..29091834 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1376-2A>G | single nucleotide variant | Familial cancer of breast [RCV002029581]|Hereditary cancer-predisposing syndrome [RCV002386915] | Chr22:28694119 [GRCh38] Chr22:29090107 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.891_908+3del | deletion | Familial cancer of breast [RCV001993776] | Chr22:28703502..28703522 [GRCh38] Chr22:29099490..29099510 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs) | deletion | Familial cancer of breast [RCV002014609]|Hereditary cancer-predisposing syndrome [RCV002352646] | Chr22:28734712..28734716 [GRCh38] Chr22:29130700..29130704 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.317T>G (p.Leu106Arg) | single nucleotide variant | Familial cancer of breast [RCV001902609] | Chr22:28734405 [GRCh38] Chr22:29130393 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.604_606del (p.Phe202del) | deletion | Familial cancer of breast [RCV001995143] | Chr22:28719472..28719474 [GRCh38] Chr22:29115460..29115462 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1487A>C (p.Gln496Pro) | single nucleotide variant | Familial cancer of breast [RCV001915643]|Hereditary cancer-predisposing syndrome [RCV002388811] | Chr22:28689190 [GRCh38] Chr22:29085178 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.825A>T (p.Glu275Asp) | single nucleotide variant | Familial cancer of breast [RCV001995774]|Hereditary cancer-predisposing syndrome [RCV004042496] | Chr22:28710027 [GRCh38] Chr22:29106015 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met) | single nucleotide variant | Familial cancer of breast [RCV001971848] | Chr22:28695196 [GRCh38] Chr22:29091184 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.511A>C (p.Asn171His) | single nucleotide variant | Familial cancer of breast [RCV002013227] | Chr22:28725058 [GRCh38] Chr22:29121046 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.827T>A (p.Ile276Asn) | single nucleotide variant | Familial cancer of breast [RCV002045893] | Chr22:28710025 [GRCh38] Chr22:29106013 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.684-1G>C | single nucleotide variant | Familial cancer of breast [RCV001994083] | Chr22:28712018 [GRCh38] Chr22:29108006 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.908T>C (p.Leu303Ser) | single nucleotide variant | Familial cancer of breast [RCV001975689]|Hereditary cancer-predisposing syndrome [RCV004042182] | Chr22:28703505 [GRCh38] Chr22:29099493 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1462G>C (p.Asp488His) | single nucleotide variant | Familial cancer of breast [RCV001917139] | Chr22:28689215 [GRCh38] Chr22:29085203 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.296T>G (p.Leu99Arg) | single nucleotide variant | Familial cancer of breast [RCV001866642] | Chr22:28734426 [GRCh38] Chr22:29130414 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter) | single nucleotide variant | Familial cancer of breast [RCV001974737]|Hereditary cancer-predisposing syndrome [RCV004946908] | Chr22:28696935 [GRCh38] Chr22:29092923 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs) | deletion | Familial cancer of breast [RCV001994712] | Chr22:28734661..28734676 [GRCh38] Chr22:29130649..29130664 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.846+4A>G | single nucleotide variant | Familial cancer of breast [RCV001995937]|Hereditary cancer-predisposing syndrome [RCV004946986] | Chr22:28710002 [GRCh38] Chr22:29105990 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-2A>T | single nucleotide variant | Familial cancer of breast [RCV002050009] | Chr22:28696989 [GRCh38] Chr22:29092977 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) | insertion | Familial cancer of breast [RCV001936746] | Chr22:28725073..28725074 [GRCh38] Chr22:29121061..29121062 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.908+6T>A | single nucleotide variant | Familial cancer of breast [RCV002033192] | Chr22:28703499 [GRCh38] Chr22:29099487 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.909-14C>T | single nucleotide variant | Familial cancer of breast [RCV002012634] | Chr22:28699951 [GRCh38] Chr22:29095939 [GRCh37] Chr22:22q12.1 |
likely benign |
NM_007194.4(CHEK2):c.1096-2A>G | single nucleotide variant | Familial cancer of breast [RCV001989399]|Hereditary cancer-predisposing syndrome [RCV004612084] | Chr22:28695875 [GRCh38] Chr22:29091863 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1125G>C (p.Leu375Phe) | single nucleotide variant | Familial cancer of breast [RCV002013817] | Chr22:28695844 [GRCh38] Chr22:29091832 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.792+19C>T | single nucleotide variant | Familial cancer of breast [RCV002031896] | Chr22:28711890 [GRCh38] Chr22:29107878 [GRCh37] Chr22:22q12.1 |
likely benign|uncertain significance |
NM_007194.4(CHEK2):c.575C>T (p.Ser192Leu) | single nucleotide variant | Familial cancer of breast [RCV002027876]|Hereditary cancer-predisposing syndrome [RCV002346323]|not provided [RCV004809735] | Chr22:28724994 [GRCh38] Chr22:29120982 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1009-3T>G | single nucleotide variant | Familial cancer of breast [RCV001979370] | Chr22:28696990 [GRCh38] Chr22:29092978 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.421A>G (p.Lys141Glu) | single nucleotide variant | Familial cancer of breast [RCV001883735]|Hereditary cancer-predisposing syndrome [RCV004611941] | Chr22:28725266 [GRCh38] Chr22:29121254 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.445-8_446del | deletion | Familial cancer of breast [RCV002018750]|Hereditary cancer-predisposing syndrome [RCV002331557] | Chr22:28725123..28725132 [GRCh38] Chr22:29121111..29121120 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NC_000022.10:g.(?_29083885)_(29095935_?)del | deletion | Familial cancer of breast [RCV001951590] | Chr22:29083885..29095935 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.792+6T>G | single nucleotide variant | Familial cancer of breast [RCV001917753] | Chr22:28711903 [GRCh38] Chr22:29107891 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs) | duplication | Familial cancer of breast [RCV001939635] | Chr22:28711918..28711919 [GRCh38] Chr22:29107906..29107907 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.266C>A (p.Thr89Asn) | single nucleotide variant | Familial cancer of breast [RCV001906902]|Hereditary cancer-predisposing syndrome [RCV004042705] | Chr22:28734456 [GRCh38] Chr22:29130444 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.361del (p.Cys121fs) | deletion | Familial cancer of breast [RCV001922524] | Chr22:28725326 [GRCh38] Chr22:29121314 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1461+1G>C | single nucleotide variant | Familial cancer of breast [RCV001974161] | Chr22:28694031 [GRCh38] Chr22:29090019 [GRCh37] Chr22:22q12.1 |
likely pathogenic |
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) | duplication | Familial cancer of breast [RCV002014496] | Chr22:28696949..28696950 [GRCh38] Chr22:29092937..29092938 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) | single nucleotide variant | Breast carcinoma [RCV002267643]|CHEK2-related cancer predisposition [RCV003136370]|Familial cancer of breast [RCV001994743]|Hereditary cancer-predisposing syndrome [RCV002458883] | Chr22:28725345 [GRCh38] Chr22:29121333 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1022A>G (p.Asn341Ser) | single nucleotide variant | Familial cancer of breast [RCV001883871] | Chr22:28696974 [GRCh38] Chr22:29092962 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.352G>A (p.Asp118Asn) | single nucleotide variant | Familial cancer of breast [RCV001991292] | Chr22:28725335 [GRCh38] Chr22:29121323 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1262T>C (p.Leu421Pro) | single nucleotide variant | Familial cancer of breast [RCV002029690] | Chr22:28695240 [GRCh38] Chr22:29091228 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.674C>G (p.Thr225Ser) | single nucleotide variant | Familial cancer of breast [RCV001979521] | Chr22:28719404 [GRCh38] Chr22:29115392 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1030del (p.Ile344fs) | deletion | Familial cancer of breast [RCV001899446]|not provided [RCV004998981] | Chr22:28696966 [GRCh38] Chr22:29092954 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1559del (p.Lys520fs) | deletion | Familial cancer of breast [RCV001919405] | Chr22:28687970 [GRCh38] Chr22:29083958 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.277_290del (p.Trp93fs) | deletion | Familial cancer of breast [RCV002051030] | Chr22:28734432..28734445 [GRCh38] Chr22:29130420..29130433 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.592+16_592+17insGGTAATATTATTATCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCAGCC | insertion | Familial cancer of breast [RCV001961434] | Chr22:28724960..28724961 [GRCh38] Chr22:29120948..29120949 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.170C>A (p.Ser57Tyr) | single nucleotide variant | Familial cancer of breast [RCV001959931] | Chr22:28734552 [GRCh38] Chr22:29130540 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1314del (p.Gln439fs) | deletion | Familial cancer of breast [RCV001939934] | Chr22:28695188 [GRCh38] Chr22:29091176 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1266T>A (p.Ser422Arg) | single nucleotide variant | Familial cancer of breast [RCV002026091] | Chr22:28695236 [GRCh38] Chr22:29091224 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.883G>A (p.Glu295Lys) | single nucleotide variant | Familial cancer of breast [RCV001991585]|Hereditary cancer-predisposing syndrome [RCV003170476] | Chr22:28703530 [GRCh38] Chr22:29099518 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1562G>T (p.Arg521Leu) | single nucleotide variant | Familial cancer of breast [RCV002019648]|Hereditary cancer-predisposing syndrome [RCV002398078] | Chr22:28687967 [GRCh38] Chr22:29083955 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.167G>C (p.Ser56Thr) | single nucleotide variant | Familial cancer of breast [RCV002019660] | Chr22:28734555 [GRCh38] Chr22:29130543 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.109G>C (p.Gly37Arg) | single nucleotide variant | Familial cancer of breast [RCV001954975]|Hereditary cancer-predisposing syndrome [RCV002442874] | Chr22:28734613 [GRCh38] Chr22:29130601 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1481A>T (p.Lys494Met) | single nucleotide variant | Familial cancer of breast [RCV002035860] | Chr22:28689196 [GRCh38] Chr22:29085184 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.325G>A (p.Val109Met) | single nucleotide variant | CHEK2-related disorder [RCV004529033]|Familial cancer of breast [RCV001886008]|Hereditary cancer-predisposing syndrome [RCV002324270]|not provided [RCV005412298] | Chr22:28725362 [GRCh38] Chr22:29121350 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.846+3A>T | single nucleotide variant | Familial cancer of breast [RCV001989145] | Chr22:28710003 [GRCh38] Chr22:29105991 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.283_288del (p.Arg95_Leu96del) | deletion | Familial cancer of breast [RCV002050068] | Chr22:28734434..28734439 [GRCh38] Chr22:29130422..29130427 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1260-5T>G | single nucleotide variant | Familial cancer of breast [RCV001960050]|Hereditary cancer-predisposing syndrome [RCV005320995] | Chr22:28695247 [GRCh38] Chr22:29091235 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) | deletion | Familial cancer of breast [RCV001993122]|Hereditary cancer-predisposing syndrome [RCV003303492] | Chr22:28703521 [GRCh38] Chr22:29099509 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.737_739del (p.Val246del) | deletion | Familial cancer of breast [RCV001934502]|Hereditary cancer-predisposing syndrome [RCV002386619] | Chr22:28711962..28711964 [GRCh38] Chr22:29107950..29107952 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) | deletion | Familial cancer of breast [RCV001866749] | Chr22:28694041 [GRCh38] Chr22:29090029 [GRCh37] Chr22:22q12.1 |
pathogenic|likely pathogenic |
NM_007194.4(CHEK2):c.1543-1G>C | single nucleotide variant | Familial cancer of breast [RCV001882986] | Chr22:28687987 [GRCh38] Chr22:29083975 [GRCh37] Chr22:22q12.1 |
likely pathogenic|uncertain significance |
NM_007194.4(CHEK2):c.1095+3A>G | single nucleotide variant | Familial cancer of breast [RCV001877061] | Chr22:28696898 [GRCh38] Chr22:29092886 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1581del (p.Glu528fs) | deletion | Familial cancer of breast [RCV002050308] | Chr22:28687948 [GRCh38] Chr22:29083936 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NC_000022.10:g.(?_29083885)_(29108015_?)del | deletion | Familial cancer of breast [RCV001958893] | Chr22:29083885..29108015 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1547C>T (p.Ser516Phe) | single nucleotide variant | Familial cancer of breast [RCV001973700]|Hereditary cancer-predisposing syndrome [RCV005321044] | Chr22:28687982 [GRCh38] Chr22:29083970 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs) | duplication | Familial cancer of breast [RCV001879741] | Chr22:28687926..28687927 [GRCh38] Chr22:29083914..29083915 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs) | deletion | Familial cancer of breast [RCV001951330] | Chr22:28695158..28695159 [GRCh38] Chr22:29091146..29091147 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.689C>A (p.Ala230Asp) | single nucleotide variant | Familial cancer of breast [RCV001926169]|Hereditary cancer-predisposing syndrome [RCV002370533] | Chr22:28712012 [GRCh38] Chr22:29108000 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.1015C>A (p.His339Asn) | single nucleotide variant | Familial cancer of breast [RCV002030470]|Hereditary cancer-predisposing syndrome [RCV002335017] | Chr22:28696981 [GRCh38] Chr22:29092969 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.432T>A (p.Phe144Leu) | single nucleotide variant | Familial cancer of breast [RCV001902364]|Hereditary cancer-predisposing syndrome [RCV004946801] | Chr22:28725255 [GRCh38] Chr22:29121243 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.683+5A>C | single nucleotide variant | Familial cancer of breast [RCV001880848] | Chr22:28719390 [GRCh38] Chr22:29115378 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs) | deletion | Familial cancer of breast [RCV001958928] | Chr22:28725021..28725022 [GRCh38] Chr22:29121009..29121010 [GRCh37] Chr22:22q12.1 |
pathogenic |
NM_007194.4(CHEK2):c.1491TCT[1] (p.Leu499del) | microsatellite | Familial cancer of breast [RCV001904620]|Hereditary cancer-predisposing syndrome [RCV002388723] | Chr22:28689181..28689183 [GRCh38] Chr22:29085169..29085171 [GRCh37] Chr22:22q12.1 |
uncertain significance |
NM_007194.4(CHEK2):c.818A>G (p.Glu273Gly) | single nucleotide variant | Familial cancer of breast [RCV001924953] | Chr22:28710034 [GRCh38] Chr22:29106022 [GRCh37] Chr22:22q12.1 |
uncertain significance |