ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.927A>G (p.Ser309=) (rs80359806)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112864 SCV000579056 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV001084532 SCV000073791 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163993 SCV000214594 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502814 SCV000591719 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163993 SCV000689188 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502814 SCV000695232 likely benign not specified 2020-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000502814 SCV000730714 benign not specified 2015-05-05 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 RCV000112864 SCV000743253 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112864 SCV000744397 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000502814 SCV001160595 likely benign not specified 2019-05-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284114 SCV001469728 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112864 SCV000145789 uncertain significance Breast-ovarian cancer, familial 2 2003-10-29 no assertion criteria provided clinical testing
True Health Diagnostics RCV000163993 SCV000805249 likely benign Hereditary cancer-predisposing syndrome 2018-04-06 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001284114 SCV001956520 likely benign not provided no assertion criteria provided clinical testing

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