ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2222G>A (p.Ser741Asn)

gnomAD frequency: 0.00001  dbSNP: rs781309325
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467556 SCV000548601 uncertain significance Oligodontia-cancer predisposition syndrome 2024-04-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 741 of the AXIN2 protein (p.Ser741Asn). This variant is present in population databases (rs781309325, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 408795). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Sema4, Sema4 RCV002257718 SCV002537162 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
Ambry Genetics RCV002257718 SCV002727451 likely benign Hereditary cancer-predisposing syndrome 2024-01-31 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.
Baylor Genetics RCV003476070 SCV004213130 uncertain significance Colorectal cancer 2023-05-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596193 SCV005089872 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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