ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9848T>C (p.Val3283Ala)

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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 RCV004952410 SCV005548724 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-21 criteria provided, single submitter clinical testing The p.V3283A variant (also known as c.9848T>C), located in coding exon 26 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9848. The valine at codon 3283 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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