ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3811T>C (p.Ser1271Pro)

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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 RCV003293416 SCV004005431 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-25 criteria provided, single submitter clinical testing The p.S1271P variant (also known as c.3811T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 3811. The serine at codon 1271 is replaced by proline, an amino acid with similar properties. This amino acid position is 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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