Submissions for variant NM_139076.3(ABRAXAS1):c.-4T>C

gnomAD frequency: 0.00106  dbSNP: rs202166386

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160464	SCV000211029	benign	not specified	2014-01-27	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589080	SCV000699904	benign	not provided	2016-02-08	criteria provided, single submitter	clinical testing	Variant summary: Variant affects a non-conserved nucleotide located in the 5 UTR of FAM175A. Mutation taster predicts the variant to be normal. It was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.091% which exceeds the maximal expected allele frequency of a disease causing FAM175A variant (0.0031%) indicating the variant to be benign. Furthermore, a clinical diagnostic center classifies variant as Benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant is classified as Benign.
CeGaT Center for Human Genetics Tuebingen	RCV000589080	SCV001154202	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	ABRAXAS1: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003937476	SCV004764508	likely benign	ABRAXAS1-related disorder	2019-10-14	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).