ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8657C>A (p.Pro2886Gln)

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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 RCV002449647 SCV002682529 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing The p.P2886Q variant (also known as c.8657C>A), located in coding exon 20 of the BRCA2 gene, results from a C to A substitution at nucleotide position 8657. The proline at codon 2886 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. 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.

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