ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10160C>T (p.Thr3387Ile)

dbSNP: rs863224584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017007 SCV001178027 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-19 criteria provided, single submitter clinical testing The p.T3387I variant (also known as c.10160C>T), located in coding exon 26 of the BRCA2 gene, results from a C to T substitution at nucleotide position 10160. The threonine at codon 3387 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526795 SCV005039635 uncertain significance not specified 2024-03-20 criteria provided, single submitter clinical testing

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