ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2320A>C (p.Thr774Pro)

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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 RCV003187210 SCV003855563 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-04 criteria provided, single submitter clinical testing The p.T774P variant (also known as c.2320A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 2320. The threonine at codon 774 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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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