ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) (rs11571653)

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Total submissions: 17
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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) RCV000113034 SCV000245024 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02797 (Asian), derived from 1000 genomes (2012-04-30).
Invitae RCV000195303 SCV000071990 benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000120314 SCV000167342 benign not specified 2013-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000131146 SCV000186086 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000113034 SCV000220807 benign Breast-ovarian cancer, familial 2 2014-10-16 criteria provided, single submitter literature only
Illumina Clinical Services Laboratory,Illumina RCV000270154 SCV000383649 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000195303 SCV000383650 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000412901 SCV000492493 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120314 SCV000538471 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: Ben by expert panel
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120314 SCV000591802 benign not specified 2013-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034435 SCV000883509 benign not provided 2017-10-09 criteria provided, single submitter clinical testing
Color RCV000131146 SCV000910571 benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034435 SCV000043203 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120314 SCV000084466 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000113034 SCV000146033 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113034 SCV000189299 benign Breast-ovarian cancer, familial 2 2011-03-10 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131146 SCV000787924 likely benign Hereditary cancer-predisposing syndrome 2018-02-15 no assertion criteria provided clinical testing

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