ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) (rs28897747)

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Total submissions: 29
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034461 SCV000602845 benign not provided 2018-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129099 SCV000183810 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034461 SCV000043228 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) RCV000083145 SCV000147282 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735609 SCV000219404 likely benign Breast and/or ovarian cancer 2017-07-27 criteria provided, single submitter clinical testing
Color RCV000129099 SCV000683946 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
Counsyl RCV000083145 SCV000154080 benign Breast-ovarian cancer, familial 2 2014-03-05 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083145 SCV000744534 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120361 SCV000592175 benign not specified 2012-06-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083145 SCV000733313 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120361 SCV000226714 benign not specified 2014-08-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083145 SCV000244479 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 = 0.00000495
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735609 SCV000863747 uncertain significance Breast and/or ovarian cancer 2001-02-15 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000083145 SCV000575734 likely benign Breast-ovarian cancer, familial 2 2015-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000120361 SCV000167406 benign not specified 2013-11-26 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083145 SCV000743343 benign Breast-ovarian cancer, familial 2 2015-08-24 criteria provided, single submitter clinical testing
ITMI RCV000120361 SCV000084513 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000045431 SCV000383777 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280295 SCV000383778 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045431 SCV000494362 benign Hereditary breast and ovarian cancer syndrome 2014-04-03 criteria provided, single submitter clinical testing
Invitae RCV000045431 SCV000073444 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120361 SCV000538490 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: Clinvar: 10 labs classify as LB/Ben; ExAC: 0.2% (118/66734) European chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034461 SCV000778717 uncertain significance not provided 2015-10-07 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000083145 SCV000196011 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000083145 SCV000207343 benign Breast-ovarian cancer, familial 2 2014-11-06 no assertion criteria provided clinical testing
PreventionGenetics RCV000034461 SCV000805774 likely benign not provided 2017-03-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083145 SCV000115219 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000129099 SCV000787952 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing
Vantari Genetics RCV000129099 SCV000267024 likely benign Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing

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