ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr)

dbSNP: rs80358963
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113752 SCV000244471 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000000163
GeneDx RCV001719797 SCV000210648 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21990134, 24323938, 18375895, 21702907, 29884841)
Ambry Genetics RCV000163012 SCV000213500 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000113752 SCV000785916 benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-01-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163012 SCV001359211 likely benign Hereditary cancer-predisposing syndrome 2018-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412625 SCV001614716 likely benign Hereditary breast ovarian cancer syndrome 2022-12-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163012 SCV002531855 likely benign Hereditary cancer-predisposing syndrome 2021-06-13 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA2) RCV000113752 SCV000147077 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2000-08-16 no assertion criteria provided clinical testing

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