ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5007C>T (p.Ala1669=)

dbSNP: rs751856943
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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) RCV000494835 SCV000578283 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/).
Color Diagnostics, LLC DBA Color Health RCV000774936 SCV000908999 likely benign Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774936 SCV002645468 likely benign Hereditary cancer-predisposing syndrome 2020-05-19 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 RCV002526048 SCV003345694 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change affects codon 1669 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. This variant is present in population databases (rs751856943, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 427317). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Brotman Baty Institute, University of Washington RCV000494835 SCV001238434 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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