ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9910T>G (p.Cys3304Gly)

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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 RCV002382812 SCV002691312 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-06 criteria provided, single submitter clinical testing The p.C3304G variant (also known as c.9910T>G), located in coding exon 26 of the BRCA2 gene, results from a T to G substitution at nucleotide position 9910. The cysteine at codon 3304 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is 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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