ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)

dbSNP: rs794726997
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Total submissions: 7
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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) RCV000495779 SCV000578188 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/).
Eurofins Ntd Llc (ga) RCV000587715 SCV000224989 uncertain significance not provided 2014-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855613 SCV000698867 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011536 SCV001171869 likely benign Hereditary cancer-predisposing syndrome 2019-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV001011536 SCV001360029 likely benign Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001413562 SCV001615681 likely benign Hereditary breast ovarian cancer syndrome 2023-06-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495779 SCV004818324 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-04-03 criteria provided, single submitter clinical testing

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