ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) (rs55638633)

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Total submissions: 15
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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) RCV000031398 SCV000244434 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 = 0.00000000714
Invitae RCV000755878 SCV000072121 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000044108 SCV000210585 likely benign not specified 2017-09-27 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 RCV000162553 SCV000212963 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000044108 SCV000538473 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: All publications in HGMD list as non-pathogenic; ExAC: 16/66172 European chromosomes
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044108 SCV000591845 benign not specified 2014-04-16 criteria provided, single submitter clinical testing
Color RCV000162553 SCV000683523 likely benign Hereditary cancer-predisposing syndrome 2015-03-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031398 SCV000743281 likely benign Breast-ovarian cancer, familial 2 2015-05-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031398 SCV000744435 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162553 SCV000747809 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755878 SCV000883521 benign not provided 2018-05-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769690 SCV000901104 likely benign Breast and/or ovarian cancer 2016-12-29 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031398 SCV000054003 benign Breast-ovarian cancer, familial 2 2008-06-07 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031398 SCV000146160 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148419 SCV000190118 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research

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