ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)

gnomAD frequency: 0.00046  dbSNP: rs200573256
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123804 SCV000167147 benign not specified 2014-02-19 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 RCV001080242 SCV000261342 benign Oligodontia-cancer predisposition syndrome 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000206291 SCV001151401 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing AXIN2: BP4, BP7
Ambry Genetics RCV001014212 SCV001174894 likely benign Hereditary cancer-predisposing syndrome 2018-11-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV001080242 SCV001280676 benign Oligodontia-cancer predisposition syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Sema4, Sema4 RCV001014212 SCV002537146 benign Hereditary cancer-predisposing syndrome 2020-12-30 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000123804 SCV002551238 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123804 SCV002773935 benign not specified 2021-07-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123804 SCV004028894 benign not specified 2023-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000123804 SCV000691775 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000206291 SCV001742948 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000206291 SCV001921252 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000206291 SCV001963838 likely benign not provided no assertion criteria provided clinical testing

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