ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) (rs4987117)

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Total submissions: 30
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000412748 SCV000492496 uncertain significance Neoplasm of the breast criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034450 SCV000602777 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128885 SCV000172742 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000467184 SCV000541024 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034450 SCV000043217 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113476 SCV000146687 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120330 SCV000586963 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Color RCV000128885 SCV000537356 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000113476 SCV000154063 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113476 SCV000744476 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120330 SCV000591995 benign not specified 2016-02-18 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000120330 SCV000588103 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113476 SCV000733272 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000119140 SCV000257612 benign Hereditary breast and ovarian cancer syndrome 2015-03-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120330 SCV000202291 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113476 SCV000245035 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02375 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV000120330 SCV000167375 benign not specified 2013-09-16 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 RCV000113476 SCV000743312 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120330 SCV000084482 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000119140 SCV000383725 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000119140 SCV000494334 benign Hereditary breast and ovarian cancer syndrome 2014-01-15 criteria provided, single submitter clinical testing
Invitae RCV000119140 SCV000153855 benign Hereditary breast and ovarian cancer syndrome 2017-08-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120330 SCV000268810 benign not specified 2015-06-29 criteria provided, single submitter clinical testing p.Thr1915Met in exon 11 of BRCA2: This variant is not expected to have clinical significance because it has been identified in 2.7% (1814/66580) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs4987117) and due to a lack of conservation across species, including >20 mammals which have a methionine (Met) at this position.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034450 SCV000778691 benign not provided 2016-12-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113476 SCV000195992 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113476 SCV000187736 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided literature only
PreventionGenetics RCV000120330 SCV000301765 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113476 SCV000189310 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128885 SCV000787937 benign Hereditary cancer-predisposing syndrome 2017-12-01 no assertion criteria provided clinical testing
Vantari Genetics RCV000128885 SCV000267019 likely benign Hereditary cancer-predisposing syndrome 2015-12-17 criteria provided, single submitter clinical testing

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