ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7060C>G (p.Gln2354Glu)

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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 RCV002365046 SCV002661538 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-30 criteria provided, single submitter clinical testing The p.Q2354E variant (also known as c.7060C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7060. The glutamine at codon 2354 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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