ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10039A>G (p.Ile3347Val)

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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 RCV002392180 SCV002703611 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-04 criteria provided, single submitter clinical testing The p.I3347V variant (also known as c.10039A>G), located in coding exon 26 of the BRCA2 gene, results from an A to G substitution at nucleotide position 10039. The isoleucine at codon 3347 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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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