Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_130839.5(UBE3A):c.*4A>G

CA7435334

597013 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a9a9f0ea-47c2-42a9-9217-5c48eff9cf92

Approved on: 2023-06-15

Published on: 2023-06-21

HGVS expressions

NM_130839.5:c.*4A>G

NM_130839.5(UBE3A):c.*4A>G

NC_000015.10:g.25339133T>C

CM000677.2:g.25339133T>C

NC_000015.9:g.25584280T>C

CM000677.1:g.25584280T>C

NC_000015.8:g.23135373T>C

NG_009268.1:g.104849A>G

ENST00000438097.6:c.*4A>G

ENST00000635914.1:c.*948A>G

ENST00000636667.1:c.*4A>G

ENST00000637886.1:c.*4A>G

ENST00000638011.1:c.*4A>G

ENST00000638155.1:c.*4A>G

ENST00000648336.2:c.*4A>G

ENST00000649550.1:c.*4A>G

ENST00000650110.1:c.*4A>G

ENST00000232165.7:c.*4A>G

ENST00000428984.6:c.*4A>G

ENST00000566215.5:c.*4A>G

ENST00000614096.4:c.*4A>G

ENST00000626176.2:n.434A>G

ENST00000630424.2:c.*4A>G

NM_000462.3:c.*4A>G

NM_130838.1:c.*4A>G

NM_130839.2:c.*4A>G

NM_000462.5:c.*4A>G

NM_001354505.1:c.*4A>G

NM_001354506.1:c.*4A>G

NM_001354507.1:c.*4A>G

NM_001354508.1:c.*4A>G

NM_001354509.1:c.*4A>G

NM_001354511.1:c.*4A>G

NM_001354512.1:c.*4A>G

NM_001354513.1:c.*4A>G

NM_001354523.1:c.*4A>G

NM_001354526.1:c.*4A>G

NM_001354538.1:c.*4A>G

NM_001354539.1:c.*4A>G

NM_001354540.1:c.*4A>G

NM_001354541.1:c.*4A>G

NM_001354542.1:c.*4A>G

NM_001354543.1:c.*4A>G

NM_001354544.1:c.*4A>G

NM_001354545.1:c.*4A>G

NM_001354546.1:c.*4A>G

NM_001354547.1:c.*4A>G

NM_001354548.1:c.*4A>G

NM_001354549.1:c.*4A>G

NM_001354550.1:c.*4A>G

NM_001354551.1:c.*4A>G

NM_130838.3:c.*4A>G

NM_130839.4:c.*4A>G

NR_146177.1:n.18393-52463T>C

NR_148916.1:n.3167A>G

NM_001354506.2:c.*4A>G

NM_001354507.2:c.*4A>G

NM_001354508.2:c.*4A>G

NM_001354509.2:c.*4A>G

NM_001354511.2:c.*4A>G

NM_001354512.2:c.*4A>G

NM_001354513.2:c.*4A>G

NM_001354523.2:c.*4A>G

NM_001354538.2:c.*4A>G

NM_001354539.2:c.*4A>G

NM_001354540.2:c.*4A>G

NM_001354541.2:c.*4A>G

NM_001354542.2:c.*4A>G

NM_001354543.2:c.*4A>G

NM_001354544.2:c.*4A>G

NM_001354545.2:c.*4A>G

NM_001354546.2:c.*4A>G

NM_001354547.2:c.*4A>G

NM_001354548.2:c.*4A>G

NM_001354549.2:c.*4A>G

NM_001354550.2:c.*4A>G

NM_001354551.2:c.*4A>G

NM_001374461.1:c.*4A>G

NM_130838.4:c.*4A>G

NR_148916.2:n.3135A>G

Uncertain Significance

BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The c.*4A>G variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0068% in the European (non-Finnish) sub population (no criteria met). In summary, the c.*4A>G variant in UBE3A is classified as Variant of Uncertain Significance based on the ACMG/AMP criteria (no criteria met).

BS1

The c.*4A>G variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0068% in the European (non-Finnish) sub population (no criteria met).

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.