ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) (rs80358600)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000074526 SCV000602860 benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162770 SCV000213247 benign Hereditary cancer-predisposing syndrome 2014-08-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034437 SCV000043205 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000077306 SCV000146251 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770718 SCV000902196 likely benign Breast and/or ovarian cancer 2016-11-11 criteria provided, single submitter clinical testing
Color RCV000162770 SCV000683564 benign Hereditary cancer-predisposing syndrome 2015-08-05 criteria provided, single submitter clinical testing
Counsyl RCV000077306 SCV000220437 likely benign Breast-ovarian cancer, familial 2 2014-06-20 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077306 SCV000744439 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074526 SCV000591865 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000074526 SCV000588090 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000044213 SCV000296853 likely benign Hereditary breast and ovarian cancer syndrome 2015-09-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000074526 SCV000333319 benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077306 SCV000244437 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 = 0.000000315
GeneDx RCV000074526 SCV000108611 benign not specified 2016-12-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000044213 SCV000383683 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303693 SCV000383684 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000044213 SCV000072226 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000074526 SCV000538458 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: ExAC: 1.4% (90/6610) Finnish chromosomes
Michigan Medical Genetics Laboratories,University of Michigan RCV000077306 SCV000195976 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077306 SCV000109103 benign Breast-ovarian cancer, familial 2 2008-10-19 no assertion criteria provided clinical testing

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