ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.238A>G (p.Ile80Val)

dbSNP: rs876660626
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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 RCV000223545 SCV000278206 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-18 criteria provided, single submitter clinical testing The p.I80V variant (also known as c.238A>G), located in coding exon 2 of the BRCA2 gene, results from an A to G substitution at nucleotide position 238. The isoleucine at codon 80 is replaced by valine, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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