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]
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Variant: NM_130839.5(UBE3A):c.618A>T (p.Ala206=)

CA291604

137882 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))
Link to MONDO
UUID: 35c28eab-d2ba-41e1-8213-1409e06ebbfe
Approved on: 2022-06-30
Published on: 2022-06-30

HGVS expressions

NM_130839.5:c.618A>T
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)
NC_000015.10:g.25371556T>A
CM000677.2:g.25371556T>A
NC_000015.9:g.25616703T>A
CM000677.1:g.25616703T>A
NC_000015.8:g.23167796T>A
NG_009268.1:g.72426A>T
ENST00000438097.6:c.558A>T
ENST00000625778.3:c.558A>T
ENST00000635914.1:c.558A>T
ENST00000637886.1:c.618A>T
ENST00000638011.1:c.558A>T
ENST00000638155.1:c.558A>T
ENST00000648336.2:c.618A>T
ENST00000649550.1:c.558A>T
ENST00000650110.1:c.627A>T
ENST00000675000.1:n.1293A>T
ENST00000675177.1:c.441A>T
ENST00000675593.1:n.3314A>T
ENST00000232165.7:c.558A>T
ENST00000397954.6:c.627A>T
ENST00000428984.6:c.558A>T
ENST00000438097.5:c.558A>T
ENST00000566215.5:c.558A>T
ENST00000614096.4:c.618A>T
ENST00000625778.2:c.558A>T
ENST00000626068.2:c.639A>T
ENST00000626793.2:n.669A>T
ENST00000630424.2:c.558A>T
NM_000462.3:c.627A>T
NM_130838.1:c.558A>T
NM_130839.2:c.618A>T
NM_000462.5:c.627A>T
NM_001354505.1:c.618A>T
NM_001354506.1:c.558A>T
NM_001354507.1:c.558A>T
NM_001354508.1:c.558A>T
NM_001354509.1:c.558A>T
NM_001354511.1:c.558A>T
NM_001354512.1:c.558A>T
NM_001354513.1:c.558A>T
NM_001354523.1:c.558A>T
NM_001354526.1:c.558A>T
NM_001354538.1:c.618A>T
NM_001354539.1:c.558A>T
NM_001354540.1:c.558A>T
NM_001354541.1:c.558A>T
NM_001354542.1:c.558A>T
NM_001354543.1:c.558A>T
NM_001354544.1:c.558A>T
NM_001354545.1:c.618A>T
NM_001354546.1:c.441A>T
NM_001354547.1:c.558A>T
NM_001354548.1:c.558A>T
NM_001354549.1:c.558A>T
NM_001354550.1:c.361+3909A>T
NM_001354551.1:c.301+3909A>T
NM_130838.3:c.558A>T
NM_130839.4:c.618A>T
NR_146177.1:n.18393-20040T>A
NR_148916.1:n.1166A>T
NM_001354506.2:c.558A>T
NM_001354507.2:c.558A>T
NM_001354508.2:c.558A>T
NM_001354509.2:c.558A>T
NM_001354511.2:c.558A>T
NM_001354512.2:c.558A>T
NM_001354513.2:c.558A>T
NM_001354523.2:c.558A>T
NM_001354538.2:c.618A>T
NM_001354539.2:c.558A>T
NM_001354540.2:c.558A>T
NM_001354541.2:c.558A>T
NM_001354542.2:c.558A>T
NM_001354543.2:c.558A>T
NM_001354544.2:c.558A>T
NM_001354545.2:c.618A>T
NM_001354546.2:c.441A>T
NM_001354547.2:c.558A>T
NM_001354548.2:c.558A>T
NM_001354549.2:c.558A>T
NM_001354550.2:c.361+3909A>T
NM_001354551.2:c.301+3909A>T
NM_001374461.1:c.558A>T
NM_130838.4:c.558A>T
NR_148916.2:n.1134A>T
More

Benign

Met criteria codes 3
BA1 BP7 BP4

Evidence Links 0

Expert Panel

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.558A>T p.(Ala186=) variant in UBE3A (NM_130838.2) is 0.047% in the European (non-Finnish) sub population 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 (BA1). In summary, the c.558A>T p.(Ala186=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1).
Met criteria codes
BA1
The allele frequency of the p.Ala186= variant in UBE3A is 0.047% in the European (non-Finnish) sub population 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.
BP7
The silent p.Ala186= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
BP4
Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4).
Curation History
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