ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2004G>A (p.Gly668=)

gnomAD frequency: 0.00004  dbSNP: rs144092307
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233077 SCV000288687 likely benign Oligodontia-cancer predisposition syndrome 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001722243 SCV000730153 likely benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014036 SCV001174694 likely benign Hereditary cancer-predisposing syndrome 2018-10-06 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 RCV000233077 SCV001280677 benign Oligodontia-cancer predisposition syndrome 2017-05-21 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001722243 SCV002048092 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001014036 SCV002537135 likely benign Hereditary cancer-predisposing syndrome 2021-04-04 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001722243 SCV004138835 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AXIN2: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001722243 SCV004219220 likely benign not provided 2022-10-11 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/247778 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Mayo Clinic Laboratories, Mayo Clinic RCV000583675 SCV000691776 likely benign not specified no assertion criteria provided clinical testing

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