ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)

gnomAD frequency: 0.00205  dbSNP: rs145085742
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115899 SCV000149808 likely benign not specified 2017-12-19 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 RCV000858406 SCV000288895 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565731 SCV000675836 likely benign Hereditary cancer-predisposing syndrome 2018-04-24 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.
Mendelics RCV000988009 SCV001137555 likely benign Fanconi anemia complementation group U 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000115899 SCV002066409 likely benign not specified 2021-06-23 criteria provided, single submitter clinical testing DNA sequence analysis of the XRCC2 gene demonstrated a sequence change, c.808T>G, in exon 3 that results in an amino acid change, p.Phe270Val. This sequence change does not appear to have been previously described in patients with XRCC2-related disorders and has been described in the gnomAD database with a low population frequency of 0.70% in African subpopulation (dbSNP rs145085742). The p.Phe270Val change affects a highly conserved amino acid residue located in a domain of the XRCC2 protein that is not known to be functional. The p.Phe270Val substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Phe270Val change remains unknown at this time.
Sema4, Sema4 RCV000565731 SCV002538384 likely benign Hereditary cancer-predisposing syndrome 2021-08-30 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003925117 SCV004754586 likely benign XRCC2-related disorder 2020-09-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Open Variation Database RCV000858406 SCV001364743 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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