ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.197A>C (p.Gln66Pro)

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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 RCV003187247 SCV003853809 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing The p.Q66P variant (also known as c.197A>C), located in coding exon 2 of the BRCA2 gene, results from an A to C substitution at nucleotide position 197. The glutamine at codon 66 is replaced by proline, an amino acid with similar properties. This amino acid position is 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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