ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9776T>G (p.Ile3259Ser)

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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 RCV002387158 SCV002693462 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-04 criteria provided, single submitter clinical testing The p.I3259S variant (also known as c.9776T>G), located in coding exon 26 of the BRCA2 gene, results from a T to G substitution at nucleotide position 9776. The isoleucine at codon 3259 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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