ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) (rs140214637)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115888 SCV000149797 likely benign not specified 2017-10-09 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 RCV000791415 SCV000288890 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 95 of the XRCC2 protein (p.Ile95Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs140214637, ExAC 0.06%). This variant has been reported in individuals affected with breast cancer, ovarian cancer, pancreatic cancer, and in unaffected controls (PMID: 22464251, 23054243, 26689913, 28767289). ClinVar contains an entry for this variant (Variation ID: 127954). Experimental studies have shown that this missense change does not affect XRCC2 protein function (PMID: 27233470). 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.
Ambry Genetics RCV000570999 SCV000675837 likely benign Hereditary cancer-predisposing syndrome 2018-11-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Mendelics RCV000709059 SCV000838293 uncertain significance Hereditary Cancer Syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988018 SCV001137565 uncertain significance Fanconi anemia, complementation group U 2019-05-28 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000791415 SCV001364752 uncertain significance not provided 2012-05-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen.

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