ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.363A>T (p.Ser121=)

dbSNP: rs1553624704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985353 SCV001133450 uncertain significance not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020779 SCV001182303 likely benign Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549645 SCV002930343 uncertain significance Familial cancer of breast 2022-02-20 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 801054). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 121 of the BARD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BARD1 protein. It affects a nucleotide within the consensus splice site.

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