ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6094G>C (p.Ala2032Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002360071 SCV002656291 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter clinical testing The p.A2032P variant (also known as c.6094G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 6094. The alanine at codon 2032 is replaced by proline, an amino acid with highly similar properties. This amino acid position is poorly 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002360071 SCV003850918 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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