ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7945C>T (p.Pro2649Ser)

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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 RCV002416841 SCV002677974 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-22 criteria provided, single submitter clinical testing The p.P2649S variant (also known as c.7945C>T), located in coding exon 16 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7945. The proline at codon 2649 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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