ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) (rs28897676)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162551 SCV000212961 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111629 SCV000144109 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000148399 SCV000902231 benign Breast and/or ovarian cancer 2016-07-22 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148399 SCV000190098 uncertain significance Breast and/or ovarian cancer 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Color RCV000162551 SCV000682964 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047493 SCV000591335 benign not specified 2013-12-18 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111629 SCV000244303 benign Breast-ovarian cancer, familial 1 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 = 0.000891
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000148399 SCV000863586 uncertain significance Breast and/or ovarian cancer 2001-10-10 no assertion criteria provided clinical testing
GeneDx RCV000047493 SCV000209927 benign not specified 2015-07-28 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.
Genetic Services Laboratory, University of Chicago RCV000047493 SCV000593661 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162551 SCV000679701 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000167818 SCV000075506 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000047493 SCV000538439 likely benign not specified 2017-02-03 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: Classified in ClinVar with 3 stars as Benign by ENIGMA (expert panel), Invitae, GeneDx, Ambry and as VUS by CSER and BIC. It has a max MAF of 0.026% in ExAC (3 Latino alleles). The AA is not conserved and only mammals have this region, 6 of which have a Cys at this position.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656641 SCV000778768 likely benign not provided 2017-03-30 no assertion criteria provided clinical testing
PreventionGenetics RCV000656641 SCV000806897 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047493 SCV000587141 benign not specified 2014-01-31 no assertion criteria provided research

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