ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.995T>G (p.Ile332Ser)

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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 RCV004602335 SCV005102158 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The p.I332S variant (also known as c.995T>G), located in coding exon 9 of the BRCA2 gene, results from a T to G substitution at nucleotide position 995. The isoleucine at codon 332 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not 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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