ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5314A>G (p.Ile1772Val)

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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 RCV004602345 SCV005102189 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-23 criteria provided, single submitter clinical testing The p.I1772V variant (also known as c.5314A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 5314. The isoleucine at codon 1772 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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