ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.842G>A (p.Ter281=)

gnomAD frequency: 0.00001  dbSNP: rs757510359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417829 SCV000534259 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001035582 SCV001198915 uncertain significance not provided 2022-11-05 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. ClinVar contains an entry for this variant (Variation ID: 391235). This variant has not been reported in the literature in individuals affected with XRCC2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 281 of the XRCC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the XRCC2 protein.
Ambry Genetics RCV002446748 SCV002678366 likely benign Hereditary cancer-predisposing syndrome 2020-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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