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]

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

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

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).

Curation History

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