ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.785C>T (p.Ala262Val)

dbSNP: rs1553622444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569571 SCV000668279 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-06 criteria provided, single submitter clinical testing The p.A262V variant (also known as c.785C>T), located in coding exon 4 of the BARD1 gene, results from a C to T substitution at nucleotide position 785. The alanine at codon 262 is replaced by valine, an amino acid with similar properties. This amino acid position is well 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 RCV001222251 SCV001394345 uncertain significance Familial cancer of breast 2021-10-01 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 may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 482837). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 262 of the BARD1 protein (p.Ala262Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Color Diagnostics, LLC DBA Color Health RCV000569571 SCV004362686 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-20 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 262 of the BARD1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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