ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.477A>T (p.Ala159=)

gnomAD frequency: 0.03018  dbSNP: rs28528079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV000144349 SCV002540703 benign Angelman syndrome 2022-06-30 reviewed by expert panel curation The allele frequency of the c.417A>T p.(Ala139=) variant in UBE3A (NM_130838.2) is 9.85% in African/African-American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.417A>T p.(Ala139=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1).
Eurofins Ntd Llc (ga) RCV000082350 SCV000114313 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000082350 SCV000169707 benign not specified 2016-06-14 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.
Genetic Services Laboratory, University of Chicago RCV000082350 SCV000195378 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000144349 SCV000559142 benign Angelman syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311731 SCV000845917 benign Inborn genetic diseases 2016-03-13 criteria provided, single submitter clinical testing This alteration is classified as 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.
Baylor Genetics RCV000144349 SCV000188526 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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.