ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) (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 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: 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 2 2018-01-09 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163012 SCV001359211 likely benign Hereditary cancer-predisposing syndrome 2018-12-12 criteria provided, single submitter clinical testing
Invitae RCV001412625 SCV001614716 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-08 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001646653 SCV001854922 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA2) RCV000113752 SCV000147077 uncertain significance Breast-ovarian cancer, familial 2 2000-08-16 no assertion criteria provided clinical testing

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