Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene label mismatch: UBE3A vs undefined
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)

CA391351072

654655 (ClinVar)

Gene: UBE3A (HGNC:7337)
Condition: Angelman syndrome (MONDO:0007113)
Inheritance Mode: Autosomal dominant inheritance
UUID: 52c90ff0-38d6-4a6f-8964-0ea960fb1997
Approved on: 2025-02-28
Published on: 2025-03-27

HGVS expressions

NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)
NM_130839.5:c.2444G>A
NC_000015.10:g.25340139C>T
CM000677.2:g.25340139C>T
NC_000015.9:g.25585286C>T
CM000677.1:g.25585286C>T
NC_000015.8:g.23136379C>T
NG_009268.1:g.103843G>A
ENST00000438097.6:c.2384G>A
ENST00000635914.1:c.2384G>A
ENST00000636667.1:c.-20G>A
ENST00000637886.1:c.2444G>A
ENST00000638011.1:c.2384G>A
ENST00000638155.1:c.2384G>A
ENST00000648336.2:c.2444G>A
ENST00000649550.1:c.2384G>A
ENST00000650110.1:c.2453G>A
ENST00000675177.1:c.2267G>A
ENST00000675593.1:n.5140G>A
ENST00000232165.7:c.2384G>A
ENST00000397954.6:c.2453G>A
ENST00000428984.6:c.2384G>A
ENST00000438097.5:c.2384G>A
ENST00000566215.5:c.2384G>A
ENST00000604860.3:c.395G>A
ENST00000614096.4:c.2444G>A
ENST00000626176.2:c.255G>A
ENST00000630424.2:c.2384G>A
NM_000462.3:c.2453G>A
NM_130838.1:c.2384G>A
NM_130839.2:c.2444G>A
NM_000462.5:c.2453G>A
NM_001354505.1:c.2444G>A
NM_001354506.1:c.2384G>A
NM_001354507.1:c.2384G>A
NM_001354508.1:c.2384G>A
NM_001354509.1:c.2384G>A
NM_001354511.1:c.2384G>A
NM_001354512.1:c.2384G>A
NM_001354513.1:c.2384G>A
NM_001354523.1:c.2384G>A
NM_001354526.1:c.2384G>A
NM_001354538.1:c.2444G>A
NM_001354539.1:c.2384G>A
NM_001354540.1:c.2384G>A
NM_001354541.1:c.2384G>A
NM_001354542.1:c.2384G>A
NM_001354543.1:c.2384G>A
NM_001354544.1:c.2384G>A
NM_001354545.1:c.2288G>A
NM_001354546.1:c.2267G>A
NM_001354547.1:c.2228G>A
NM_001354548.1:c.2228G>A
NM_001354549.1:c.2219G>A
NM_001354550.1:c.1193G>A
NM_001354551.1:c.1133G>A
NM_130838.3:c.2384G>A
NM_130839.4:c.2444G>A
NR_146177.1:n.18393-51457C>T
NR_148916.1:n.2988G>A
NM_001354506.2:c.2384G>A
NM_001354507.2:c.2384G>A
NM_001354508.2:c.2384G>A
NM_001354509.2:c.2384G>A
NM_001354511.2:c.2384G>A
NM_001354512.2:c.2384G>A
NM_001354513.2:c.2384G>A
NM_001354523.2:c.2384G>A
NM_001354538.2:c.2444G>A
NM_001354539.2:c.2384G>A
NM_001354540.2:c.2384G>A
NM_001354541.2:c.2384G>A
NM_001354542.2:c.2384G>A
NM_001354543.2:c.2384G>A
NM_001354544.2:c.2384G>A
NM_001354545.2:c.2288G>A
NM_001354546.2:c.2267G>A
NM_001354547.2:c.2228G>A
NM_001354548.2:c.2228G>A
NM_001354549.2:c.2219G>A
NM_001354550.2:c.1193G>A
NM_001354551.2:c.1133G>A
NM_001374461.1:c.2384G>A
NM_130838.4:c.2384G>A
NR_148916.2:n.2956G>A
More

Likely Pathogenic

Met criteria codes 3
PP3 PS2 PM2_Supporting
Not Met criteria codes 2
PS4 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 5.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The c.2444G>A (p.Gly815Glu) variant in UBE3A has been identified as a de novo occurrence with confirmed parental relationships in 1 individual with clinical features of Angelman syndrome (PS2; GeneDx: internal data). This variant is absent from gnomAD v4.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.705, which is above the threshold of 0.644, evidence that correlates with impact to UBE3A function (PP3). In summary, the p.Gly815Glu variant in UBE3A is classified as Likely Pathogenic for Angelman syndrome based on the ACMG/AMP criteria (PS2, PP3, PM2_supporting) (UBE3A specifications version 5.0; 02/28/2025).
Met criteria codes
PP3
The computational predictor REVEL gives a score of 0.705, which is above the threshold of 0.644, evidence that correlates with impact to UBE3A function (PP3).
PS2
This variant has been identified as a de novo occurrence with confirmed parental relationships in 1 individual with clinical features of Angelman syndrome (PS2; GeneDx: internal data).
PM2_Supporting
This variant is absent from gnomAD v4.1 (PM2_Supporting).
Not Met criteria codes
PS4
The p.Gly815Glu variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time.
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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. If you have questions about the information contained on this website, please see a health care professional.
ClinGen Terms of Use.
¤ Powered by BCM's Genboree.