ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9167A>C (p.His3056Pro)

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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 RCV002378843 SCV002688647 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-05 criteria provided, single submitter clinical testing The p.H3056P variant (also known as c.9167A>C), located in coding exon 23 of the BRCA2 gene, results from an A to C substitution at nucleotide position 9167. The histidine at codon 3056 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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