Submissions for variant NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)

gnomAD frequency: 0.00043  dbSNP: rs62640028

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573834	SCV000149789	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function This variant is associated with the following publications: (PMID: 30262796)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231705	SCV000288721	likely benign	Oligodontia-cancer predisposition syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231705	SCV000405745	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.
Mendelics	RCV000231705	SCV001140819	likely benign	Oligodontia-cancer predisposition syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001026292	SCV001188642	likely benign	Hereditary cancer-predisposing syndrome	2022-10-19	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.
Genetic Services Laboratory, University of Chicago	RCV001818280	SCV002066330	likely benign	not specified	2020-02-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001026292	SCV002537221	benign	Hereditary cancer-predisposing syndrome	2020-11-17	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001818280	SCV002551297	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573834	SCV002822421	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	AXIN2: BP4, BS1:Supporting
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001573834	SCV004220256	benign	not provided	2022-09-06	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573834	SCV001800263	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573834	SCV001807952	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573834	SCV001923846	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573834	SCV001969536	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153373	SCV003843668	likely pathogenic	Ovarian cancer	2022-01-01	flagged submission	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542825	SCV004762138	likely benign	AXIN2-related disorder	2020-06-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).