ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.483C>G (p.Ile161Met)

dbSNP: rs1160324143
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689089 SCV000816727 uncertain significance Oligodontia-cancer predisposition syndrome 2023-09-26 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AXIN2 protein function. ClinVar contains an entry for this variant (Variation ID: 568662). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 161 of the AXIN2 protein (p.Ile161Met).
Sema4, Sema4 RCV002257930 SCV002537203 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-03 criteria provided, single submitter curation
Ambry Genetics RCV002257930 SCV002639269 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-19 criteria provided, single submitter clinical testing The p.I161M variant (also known as c.483C>G), located in coding exon 1 of the AXIN2 gene, results from a C to G substitution at nucleotide position 483. The isoleucine at codon 161 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004768564 SCV005376753 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15735151)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.