ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6605A>C (p.Asp2202Ala)

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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 RCV004602385 SCV005097559 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-31 criteria provided, single submitter clinical testing The p.D2202A variant (also known as c.6605A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 6605. The aspartic acid at codon 2202 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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