ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8738A>T (p.Asp2913Val)

dbSNP: rs1566251497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707038 SCV000836116 uncertain significance Hereditary breast ovarian cancer syndrome 2022-03-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 2913 of the BRCA2 protein (p.Asp2913Val). ClinVar contains an entry for this variant (Variation ID: 582857). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function.
Color Diagnostics, LLC DBA Color Health RCV001184338 SCV001350298 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184338 SCV002685287 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-30 criteria provided, single submitter clinical testing The p.D2913V variant (also known as c.8738A>T), located in coding exon 20 of the BRCA2 gene, results from an A to T substitution at nucleotide position 8738. The aspartic acid at codon 2913 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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