ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8833C>G (p.Gln2945Glu)

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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 RCV002373785 SCV002683420 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-02 criteria provided, single submitter clinical testing The p.Q2945E variant (also known as c.8833C>G), located in coding exon 21 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8833. The glutamine at codon 2945 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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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