ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7196C>G (p.Thr2399Arg)

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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 RCV004602312 SCV005102094 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-19 criteria provided, single submitter clinical testing The p.T2399R variant (also known as c.7196C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7196. The threonine at codon 2399 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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