ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1113T>C (p.Pro371=)

gnomAD frequency: 0.00001  dbSNP: rs876658619
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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) RCV000495085 SCV000578404 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 RCV000222614 SCV000274110 likely benign Hereditary cancer-predisposing syndrome 2015-02-18 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 RCV000943809 SCV001089763 likely benign Hereditary breast ovarian cancer syndrome 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269104 SCV001448345 likely benign not specified 2020-11-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800547 SCV002046669 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947721 SCV004757602 likely benign BRCA1-related condition 2022-11-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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