ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.374A>T (p.Asp125Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004952430 SCV005550105 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-20 criteria provided, single submitter clinical testing The p.D125V variant (also known as c.374A>T), located in coding exon 3 of the BRCA2 gene, results from an A to T substitution at nucleotide position 374. The aspartic acid at codon 125 is replaced by valine, an amino acid with highly dissimilar properties. This variant was reported in at least one individual with features consistent with BRCA1/2-related hereditary breast and ovarian cancer syndrome (Konstantopoulou I et al. Clin Genet, 2014 Jan;85:36-42). 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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