ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) (rs41293475)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034428 SCV000602838 benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162684 SCV000213138 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034428 SCV000043196 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112886 SCV000145823 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148428 SCV000190127 uncertain significance Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120306 SCV000586925 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034428 SCV000692768 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000162684 SCV000683404 likely benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing
Counsyl RCV000112886 SCV000154036 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112886 SCV000744403 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120306 SCV000591730 benign not specified 2013-01-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112886 SCV000733224 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112886 SCV000244418 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 = 0.000424
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735441 SCV000863577 uncertain significance Breast and/or ovarian cancer 2001-08-21 no assertion criteria provided clinical testing
GeneDx RCV000120306 SCV000108596 benign not specified 2017-07-25 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 RCV000120306 SCV000593701 likely benign not specified 2015-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112886 SCV000743256 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120306 SCV000084458 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000043747 SCV000383628 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000043747 SCV000071760 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120306 SCV000538482 uncertain significance 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: Multiple publications classify as VUS/not pathogenic; ExAC: 0.1% (69/66720) European chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034428 SCV000778641 likely benign not provided 2016-12-08 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112886 SCV000267742 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000034428 SCV000805647 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120306 SCV000587580 benign not specified 2014-01-31 no assertion criteria provided research

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