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.582A>G (p.Ala194=)

Curation Version - 1.0
Curation History
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CA7435619

500854 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 114ed045-b945-4d58-b23a-5e44edc92e29

Approved on: 2023-06-15

Published on: 2023-06-21

HGVS expressions

NM_130839.5:c.582A>G

NM_130839.5(UBE3A):c.582A>G (p.Ala194=)

NC_000015.10:g.25371592T>C

CM000677.2:g.25371592T>C

NC_000015.9:g.25616739T>C

CM000677.1:g.25616739T>C

NC_000015.8:g.23167832T>C

NG_009268.1:g.72390A>G

ENST00000438097.6:c.522A>G

ENST00000625778.3:c.522A>G

ENST00000635914.1:c.522A>G

ENST00000637886.1:c.582A>G

ENST00000638011.1:c.522A>G

ENST00000638155.1:c.522A>G

ENST00000648336.2:c.582A>G

ENST00000649550.1:c.522A>G

ENST00000650110.1:c.591A>G

ENST00000675000.1:n.1257A>G

ENST00000675177.1:c.405A>G

ENST00000675593.1:n.3278A>G

ENST00000232165.7:c.522A>G

ENST00000397954.6:c.591A>G

ENST00000428984.6:c.522A>G

ENST00000438097.5:c.522A>G

ENST00000566215.5:c.522A>G

ENST00000614096.4:c.582A>G

ENST00000625778.2:c.522A>G

ENST00000626068.2:c.603A>G

ENST00000626793.2:n.633A>G

ENST00000630424.2:c.522A>G

NM_000462.3:c.591A>G

NM_130838.1:c.522A>G

NM_130839.2:c.582A>G

NM_000462.5:c.591A>G

NM_001354505.1:c.582A>G

NM_001354506.1:c.522A>G

NM_001354507.1:c.522A>G

NM_001354508.1:c.522A>G

NM_001354509.1:c.522A>G

NM_001354511.1:c.522A>G

NM_001354512.1:c.522A>G

NM_001354513.1:c.522A>G

NM_001354523.1:c.522A>G

NM_001354526.1:c.522A>G

NM_001354538.1:c.582A>G

NM_001354539.1:c.522A>G

NM_001354540.1:c.522A>G

NM_001354541.1:c.522A>G

NM_001354542.1:c.522A>G

NM_001354543.1:c.522A>G

NM_001354544.1:c.522A>G

NM_001354545.1:c.582A>G

NM_001354546.1:c.405A>G

NM_001354547.1:c.522A>G

NM_001354548.1:c.522A>G

NM_001354549.1:c.522A>G

NM_001354550.1:c.361+3873A>G

NM_001354551.1:c.301+3873A>G

NM_130838.3:c.522A>G

NM_130839.4:c.582A>G

NR_146177.1:n.18393-20004T>C

NR_148916.1:n.1130A>G

NM_001354506.2:c.522A>G

NM_001354507.2:c.522A>G

NM_001354508.2:c.522A>G

NM_001354509.2:c.522A>G

NM_001354511.2:c.522A>G

NM_001354512.2:c.522A>G

NM_001354513.2:c.522A>G

NM_001354523.2:c.522A>G

NM_001354538.2:c.582A>G

NM_001354539.2:c.522A>G

NM_001354540.2:c.522A>G

NM_001354541.2:c.522A>G

NM_001354542.2:c.522A>G

NM_001354543.2:c.522A>G

NM_001354544.2:c.522A>G

NM_001354545.2:c.582A>G

NM_001354546.2:c.405A>G

NM_001354547.2:c.522A>G

NM_001354548.2:c.522A>G

NM_001354549.2:c.522A>G

NM_001354550.2:c.361+3873A>G

NM_001354551.2:c.301+3873A>G

NM_001374461.1:c.522A>G

NM_130838.4:c.522A>G

NR_148916.2:n.1098A>G

Likely Benign

BS1 BP7 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.522A>G p.Ala174= variant in UBE3A (NM_130838.2) is 0.017% in the Latino/Admixed American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Ala174= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.522A>G p.Ala174= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).

BS1

The allele frequency of the c.522A>G p.(Ala174=) variant in UBE3A (NM_130838.2) is 0.017% in the Latino/Admixed American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.

BP7

The silent p.(Ala174=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.

BP4

The silent p.(Ala174=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.

Curation History

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