ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2285A>T (p.Asp762Val)

dbSNP: rs1555282600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776774 SCV000912419 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776774 SCV002735513 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-16 criteria provided, single submitter clinical testing The p.D762V variant (also known as c.2285A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 2285. The aspartic acid at codon 762 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000776774 SCV003848198 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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