ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.223G>C (p.Glu75Gln)

gnomAD frequency: 0.00001  dbSNP: rs1327414828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562945 SCV000675853 likely benign Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001368535 SCV001564931 uncertain significance not provided 2021-08-01 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. Experimental studies in a cell line have shown that this missense change does not impair XRCC2 protein function (PMID: 27233470). This variant has been reported in an individual affected with breast cancer (PMID: 23054243). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 75 of the XRCC2 protein (p.Glu75Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.
Leiden Open Variation Database RCV001194893 SCV001364749 likely benign not specified 2013-03-01 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Florentine Hilbers.

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