ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.11G>T (p.Gly4Val)

dbSNP: rs587782137
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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 RCV001010276 SCV001170448 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-26 criteria provided, single submitter clinical testing The p.G4V variant (also known as c.11G>T), located in coding exon 1 of the BRCA2 gene, results from a G to T substitution at nucleotide position 11. The glycine at codon 4 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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