ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=)

gnomAD frequency: 0.00001  dbSNP: rs80356922
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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) RCV000495276 SCV000577989 benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0021 (Admixed American/Latino), derived from ExAC (2014-12-17).
Ambry Genetics RCV000166931 SCV000217750 likely benign Hereditary cancer-predisposing syndrome 2014-12-30 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.
Invitae RCV000471051 SCV000560208 likely benign Hereditary breast ovarian cancer syndrome 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001707547 SCV000724394 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Mendelics RCV000495276 SCV001140554 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing

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