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.1032T>C (p.Ile344=)

Curation Version - 1.2
Curation History
JSON LD for Version 1.2

CA243569

196571 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: f920f9e4-b482-4403-9d80-23f93ad522ce

Approved on: 2023-12-08

Published on: 2023-12-08

HGVS expressions

NM_130839.5:c.1032T>C

NM_130839.5(UBE3A):c.1032T>C (p.Ile344=)

NC_000015.10:g.25371142A>G

CM000677.2:g.25371142A>G

NC_000015.9:g.25616289A>G

CM000677.1:g.25616289A>G

NC_000015.8:g.23167382A>G

NG_009268.1:g.72840T>C

ENST00000438097.6:c.972T>C

ENST00000625778.3:c.972T>C

ENST00000635914.1:c.972T>C

ENST00000637886.1:c.1032T>C

ENST00000638011.1:c.972T>C

ENST00000638155.1:c.972T>C

ENST00000648336.2:c.1032T>C

ENST00000649550.1:c.972T>C

ENST00000650110.1:c.1041T>C

ENST00000675000.1:n.1707T>C

ENST00000675177.1:c.855T>C

ENST00000675593.1:n.3728T>C

ENST00000232165.7:c.972T>C

ENST00000397954.6:c.1041T>C

ENST00000428984.6:c.972T>C

ENST00000438097.5:c.972T>C

ENST00000566215.5:c.972T>C

ENST00000614096.4:c.1032T>C

ENST00000625778.2:c.972T>C

ENST00000630424.2:c.972T>C

NM_000462.3:c.1041T>C

NM_130838.1:c.972T>C

NM_130839.2:c.1032T>C

NM_000462.5:c.1041T>C

NM_001354505.1:c.1032T>C

NM_001354506.1:c.972T>C

NM_001354507.1:c.972T>C

NM_001354508.1:c.972T>C

NM_001354509.1:c.972T>C

NM_001354511.1:c.972T>C

NM_001354512.1:c.972T>C

NM_001354513.1:c.972T>C

NM_001354523.1:c.972T>C

NM_001354526.1:c.972T>C

NM_001354538.1:c.1032T>C

NM_001354539.1:c.972T>C

NM_001354540.1:c.972T>C

NM_001354541.1:c.972T>C

NM_001354542.1:c.972T>C

NM_001354543.1:c.972T>C

NM_001354544.1:c.972T>C

NM_001354545.1:c.1032T>C

NM_001354546.1:c.855T>C

NM_001354547.1:c.972T>C

NM_001354548.1:c.972T>C

NM_001354549.1:c.972T>C

NM_001354550.1:c.361+4323T>C

NM_001354551.1:c.301+4323T>C

NM_130838.3:c.972T>C

NM_130839.4:c.1032T>C

NR_146177.1:n.18393-20454A>G

NR_148916.1:n.1580T>C

NM_001354506.2:c.972T>C

NM_001354507.2:c.972T>C

NM_001354508.2:c.972T>C

NM_001354509.2:c.972T>C

NM_001354511.2:c.972T>C

NM_001354512.2:c.972T>C

NM_001354513.2:c.972T>C

NM_001354523.2:c.972T>C

NM_001354538.2:c.1032T>C

NM_001354539.2:c.972T>C

NM_001354540.2:c.972T>C

NM_001354541.2:c.972T>C

NM_001354542.2:c.972T>C

NM_001354543.2:c.972T>C

NM_001354544.2:c.972T>C

NM_001354545.2:c.1032T>C

NM_001354546.2:c.855T>C

NM_001354547.2:c.972T>C

NM_001354548.2:c.972T>C

NM_001354549.2:c.972T>C

NM_001354550.2:c.361+4323T>C

NM_001354551.2:c.301+4323T>C

NM_001374461.1:c.972T>C

NM_130838.4:c.972T>C

NR_148916.2:n.1548T>C

Likely Benign

BS2 BP5 BP7

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 p.Ile324= variant in UBE3A (NM_130838.2) is observed in at least 7 unaffected individuals (internal database - GeneDx) (BS2). The p.Ile324= variant in UBE3A is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). The silent p.Ile324= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Ile324= variant in UBE3A (NM_130838.2) is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5, BP7).

BS2

The p.Ile324= variant in UBE3A (NM_130838.2) is observed in at least 7 unaffected individuals (internal database) (BS2).

BP5

The p.Ile324= variant in UBE3A (NM_130838.2) is found in a patient with an alternate molecular basis of disease (internal database).

BP7

The silent p.Ile344= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). No predicted splicing effect by Alamut and spliceAI (=0), not highly conserved (based on UCSC genome browser)

BS1

MAF=0.00006478 (<0.00008)

Curation History

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