ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7898C>T (p.Ala2633Val)

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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 RCV002416599 SCV002681078 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-18 criteria provided, single submitter clinical testing The p.A2633V variant (also known as c.7898C>T), located in coding exon 16 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7898. The alanine at codon 2633 is replaced by valine, 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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