ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.217C>G (p.Gln73Glu)

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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 RCV002432870 SCV002730102 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The p.Q73E variant (also known as c.217C>G), located in coding exon 2 of the BRCA2 gene, results from a C to G substitution at nucleotide position 217. The glutamine at codon 73 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not 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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