ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln)

gnomAD frequency: 0.00010  dbSNP: rs142527605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988019 SCV001137566 uncertain significance Fanconi anemia complementation group U 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015104 SCV001175900 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-04 criteria provided, single submitter clinical testing The p.E77Q variant (also known as c.229G>C), located in coding exon 3 of the XRCC2 gene, results from a G to C substitution at nucleotide position 229. The glutamic acid at codon 77 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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.
Invitae RCV001302553 SCV001491767 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 584727). This variant has not been reported in the literature in individuals affected with XRCC2-related conditions. This variant is present in population databases (rs142527605, gnomAD 0.04%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 77 of the XRCC2 protein (p.Glu77Gln).

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