ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9068C>A (p.Ala3023Asp)

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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 RCV004602291 SCV005102037 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-11 criteria provided, single submitter clinical testing The p.A3023D variant (also known as c.9068C>A), located in coding exon 22 of the BRCA2 gene, results from a C to A substitution at nucleotide position 9068. The alanine at codon 3023 is replaced by aspartic acid, 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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