ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5867A>C (p.Asp1956Ala)

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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 RCV004602352 SCV005102206 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-29 criteria provided, single submitter clinical testing The p.D1956A variant (also known as c.5867A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 5867. The aspartic acid at codon 1956 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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