ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4914A>G (p.Glu1638=)

gnomAD frequency: 0.00001  dbSNP: rs786201216
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Total submissions: 9
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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) RCV000495291 SCV000578121 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000163105 SCV000213614 likely benign Hereditary cancer-predisposing syndrome 2014-10-25 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.
GeneDx RCV001721036 SCV000520529 likely benign not provided 2019-07-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16267036, 30209399)
Invitae RCV000560483 SCV000636000 likely benign Hereditary breast ovarian cancer syndrome 2024-01-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163105 SCV000688525 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000432445 SCV000699182 likely benign not specified 2020-09-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001721036 SCV002774157 benign not provided 2021-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721036 SCV004140622 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing BRCA1: BP4, BP7
Brotman Baty Institute, University of Washington RCV000495291 SCV001243823 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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