ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7463G>C (p.Arg2488Thr)

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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 RCV002391435 SCV002674136 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-01 criteria provided, single submitter clinical testing The p.R2488T variant (also known as c.7463G>C), located in coding exon 14 of the BRCA2 gene, results from a G to C substitution at nucleotide position 7463. The arginine at codon 2488 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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