ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1294C>T (p.Leu432=)

gnomAD frequency: 0.00001  dbSNP: rs864622454
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Total submissions: 5
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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) RCV000494830 SCV000578386 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/).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000204925 SCV001133481 likely benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Invitae RCV001503642 SCV001708498 likely benign Hereditary breast ovarian cancer syndrome 2023-06-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257507 SCV002538010 likely benign Hereditary cancer-predisposing syndrome 2021-10-14 criteria provided, single submitter curation
Ambry Genetics RCV002257507 SCV002695484 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 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.

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