ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.356C>T (p.Thr119Ile)

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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 RCV002454988 SCV002616728 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.T119I variant (also known as c.356C>T), located in coding exon 3 of the BRCA2 gene, results from a C to T substitution at nucleotide position 356. The threonine at codon 119 is replaced by isoleucine, an amino acid with similar 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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