ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8090G>T (p.Ser2697Ile)

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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 RCV002419440 SCV002679094 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-11 criteria provided, single submitter clinical testing The p.S2697I variant (also known as c.8090G>T), located in coding exon 17 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8090. The serine at codon 2697 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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