ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) (rs28897705)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586134 SCV000073484 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130334 SCV000185184 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Michigan Medical Genetics Laboratories,University of Michigan RCV000031735 SCV000195953 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000045471 SCV000210256 likely benign not specified 2017-11-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000045471 SCV000538502 uncertain significance not specified 2016-10-20 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: 1 report identified this varint in a prostate cancer cohort - reported as unclassified variant; ClinVar: 3 VUS, 2 LB/B
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045471 SCV000591715 uncertain significance not specified 2015-06-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586134 SCV000695142 likely benign not provided 2017-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031735 SCV000743251 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031735 SCV000744394 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769681 SCV000901094 uncertain significance Breast and/or ovarian cancer 2017-02-10 criteria provided, single submitter clinical testing
Color RCV000130334 SCV000910741 likely benign Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031735 SCV000054342 benign Breast-ovarian cancer, familial 2 2009-06-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031735 SCV000145776 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031735 SCV000733218 likely benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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