ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2496A>T (p.Pro832=)

gnomAD frequency: 0.00004  dbSNP: rs767666029
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Total submissions: 6
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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) RCV000495044 SCV000578275 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/).
Invitae RCV000204900 SCV000261153 likely benign Hereditary breast ovarian cancer syndrome 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563206 SCV000665006 likely benign Hereditary cancer-predisposing syndrome 2015-10-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609260 SCV000698961 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
GeneDx RCV001722130 SCV000730982 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001722130 SCV004222600 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing

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