ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.122-3C>T

dbSNP: rs730882046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161113 SCV000211848 likely benign not specified 2014-07-29 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 RCV001055488 SCV001219885 uncertain significance not provided 2022-10-10 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 183001). This variant has not been reported in the literature in individuals affected with XRCC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the XRCC2 gene. It does not directly change the encoded amino acid sequence of the XRCC2 protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002362853 SCV002656573 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-05 criteria provided, single submitter clinical testing The c.122-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 3 in the XRCC2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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