ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)

gnomAD frequency: 0.00006  dbSNP: rs371147849
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570710 SCV000660811 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-22 criteria provided, single submitter clinical testing The p.C368W variant (also known as c.1104C>G), located in coding exon 4 of the BARD1 gene, results from a C to G substitution at nucleotide position 1104. The cysteine at codon 368 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000635777 SCV000757199 uncertain significance Familial cancer of breast 2023-08-02 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 479112). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is present in population databases (rs371147849, gnomAD 0.02%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 368 of the BARD1 protein (p.Cys368Trp).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758761 SCV000887578 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570710 SCV002526983 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000635777 SCV004019403 likely benign Familial cancer of breast 2023-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Baylor Genetics RCV000635777 SCV004214989 uncertain significance Familial cancer of breast 2023-09-25 criteria provided, single submitter clinical testing

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