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_130838.3(UBE3A):c.2064+9T>C

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA149405

96260 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))

Link to MONDO

UUID: db3b7cba-cdf5-452f-981a-e93f530b51c7

Approved on: 2021-03-26

Published on: 2021-05-17

HGVS expressions

NM_130838.3:c.2064+9T>C

NM_130838.3(UBE3A):c.2064+9T>C

ENST00000438097.6:c.2064+9T>C

ENST00000625778.3:c.2064+9T>C

ENST00000635914.1:c.2064+9T>C

ENST00000637886.1:c.2124+9T>C

ENST00000638011.1:c.2064+9T>C

ENST00000638155.1:c.2064+9T>C

ENST00000648336.2:c.2124+9T>C

ENST00000649550.1:c.2064+9T>C

ENST00000650110.1:c.2133+9T>C

ENST00000675177.1:c.1947+9T>C

ENST00000675593.1:n.4820+9T>C

ENST00000232165.7:c.2064+9T>C

ENST00000397954.6:c.2133+9T>C

ENST00000428984.6:c.2064+9T>C

ENST00000438097.5:c.2064+9T>C

ENST00000566215.5:c.2064+9T>C

ENST00000604860.3:n.75+808T>C

ENST00000614096.4:c.2124+9T>C

ENST00000625778.2:c.2064+9T>C

ENST00000626176.2:n.91+9T>C

ENST00000630424.2:c.2064+9T>C

ENST00000631247.1:n.613+9T>C

NM_000462.3:c.2133+9T>C

NM_130838.1:c.2064+9T>C

NM_130839.2:c.2124+9T>C

NM_000462.5:c.2133+9T>C

NM_001354505.1:c.2124+9T>C

NM_001354506.1:c.2064+9T>C

NM_001354507.1:c.2064+9T>C

NM_001354508.1:c.2064+9T>C

NM_001354509.1:c.2064+9T>C

NM_001354511.1:c.2064+9T>C

NM_001354512.1:c.2064+9T>C

NM_001354513.1:c.2064+9T>C

NM_001354523.1:c.2064+9T>C

NM_001354526.1:c.2064+9T>C

NM_001354538.1:c.2124+9T>C

NM_001354539.1:c.2064+9T>C

NM_001354540.1:c.2064+9T>C

NM_001354541.1:c.2064+9T>C

NM_001354542.1:c.2064+9T>C

NM_001354543.1:c.2064+9T>C

NM_001354544.1:c.2064+9T>C

NM_001354545.1:c.2124+9T>C

NM_001354546.1:c.1947+9T>C

NM_001354547.1:c.2064+9T>C

NM_001354548.1:c.2064+9T>C

NM_001354549.1:c.1899+808T>C

NM_001354550.1:c.873+9T>C

NM_001354551.1:c.813+9T>C

NM_130839.4:c.2124+9T>C

NR_146177.1:n.18393-35713A>G

NR_148916.1:n.2668+9T>C

NM_001354506.2:c.2064+9T>C

NM_001354507.2:c.2064+9T>C

NM_001354508.2:c.2064+9T>C

NM_001354509.2:c.2064+9T>C

NM_001354511.2:c.2064+9T>C

NM_001354512.2:c.2064+9T>C

NM_001354513.2:c.2064+9T>C

NM_001354523.2:c.2064+9T>C

NM_001354538.2:c.2124+9T>C

NM_001354539.2:c.2064+9T>C

NM_001354540.2:c.2064+9T>C

NM_001354541.2:c.2064+9T>C

NM_001354542.2:c.2064+9T>C

NM_001354543.2:c.2064+9T>C

NM_001354544.2:c.2064+9T>C

NM_001354545.2:c.2124+9T>C

NM_001354546.2:c.1947+9T>C

NM_001354547.2:c.2064+9T>C

NM_001354548.2:c.2064+9T>C

NM_001354549.2:c.1899+808T>C

NM_001354550.2:c.873+9T>C

NM_001354551.2:c.813+9T>C

NM_001374461.1:c.2064+9T>C

NM_130838.4:c.2064+9T>C

NM_130839.5:c.2124+9T>C

NR_148916.2:n.2636+9T>C

NC_000015.10:g.25355883A>G

CM000677.2:g.25355883A>G

NC_000015.9:g.25601030A>G

CM000677.1:g.25601030A>G

NC_000015.8:g.23152123A>G

NG_009268.1:g.88099T>C

Benign

BA1 BP4

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 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).

BA1

BP4

Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing

Curation History

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