ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9211G>C (p.Glu3071Gln)

dbSNP: rs1593938141
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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 RCV001019006 SCV001180308 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing The p.E3071Q variant (also known as c.9211G>C), located in coding exon 23 of the BRCA2 gene, results from a G to C substitution at nucleotide position 9211. The glutamic acid at codon 3071 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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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