Submissions for variant NM_130839.5(UBE3A):c.2124+9T>C

gnomAD frequency: 0.00454  dbSNP: rs79328837

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000144346	SCV001711964	benign	Angelman syndrome	2021-03-26	reviewed by expert panel	curation	The allele frequency of the c.2064+9T>C variant in UBE3A is 0.4% 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. Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.2064+9T>C variant in UBE3A is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
GeneDx	RCV000082346	SCV000169715	benign	not specified	2016-06-20	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	RCV000082346	SCV000195359	benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000082346	SCV000333389	benign	not specified	2015-07-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000144346	SCV000559149	benign	Angelman syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000858258	SCV001146578	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000858258	SCV004033361	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	UBE3A: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000858258	SCV005297380	benign	not provided		criteria provided, single submitter	not provided
Baylor Genetics	RCV000144346	SCV000188523	uncertain significance	Angelman syndrome	2014-02-14	no assertion criteria provided	clinical testing	possible diagnosis of Angelman syndrome
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082346	SCV001931594	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082346	SCV001953711	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925078	SCV004743586	benign	UBE3A-related disorder	2019-05-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).