ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10130A>T (p.Glu3377Val)

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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 RCV002355214 SCV002622811 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-10 criteria provided, single submitter clinical testing The p.E3377V variant (also known as c.10130A>T), located in coding exon 26 of the BRCA2 gene, results from an A to T substitution at nucleotide position 10130. The glutamic acid at codon 3377 is replaced by valine, an amino acid with dissimilar 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.

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