ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) (rs28897697)

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Total submissions: 10
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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) RCV000412133 SCV000578291 likely benign Breast-ovarian cancer, familial 1 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/).
Ambry Genetics RCV000163249 SCV000213776 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 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.
Invitae RCV001080088 SCV000253511 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000412133 SCV000488667 likely benign Breast-ovarian cancer, familial 1 2016-05-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508671 SCV000605906 uncertain significance not specified 2016-11-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163249 SCV000683266 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759554 SCV000888938 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508671 SCV000916784 likely benign not specified 2019-07-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508671 SCV001156852 likely benign not specified 2018-11-20 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV000412133 SCV001241807 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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