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.1881T>C (p.Asp627=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA333546

160215 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 8dde7cda-8276-4e8b-ac4d-757378884839

Approved on: 2023-12-06

Published on: 2023-12-11

HGVS expressions

NM_130839.5:c.1881T>C

NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)

NC_000015.10:g.25356769A>G

CM000677.2:g.25356769A>G

NC_000015.9:g.25601916A>G

CM000677.1:g.25601916A>G

NC_000015.8:g.23153009A>G

NG_009268.1:g.87213T>C

ENST00000438097.6:c.1821T>C

ENST00000625778.3:c.1821T>C

ENST00000635914.1:c.1821T>C

ENST00000637886.1:c.1881T>C

ENST00000638011.1:c.1821T>C

ENST00000638155.1:c.1821T>C

ENST00000648336.2:c.1881T>C

ENST00000649550.1:c.1821T>C

ENST00000650110.1:c.1890T>C

ENST00000675177.1:c.1704T>C

ENST00000675593.1:n.4577T>C

ENST00000232165.7:c.1821T>C

ENST00000397954.6:c.1890T>C

ENST00000428984.6:c.1821T>C

ENST00000438097.5:c.1821T>C

ENST00000566215.5:c.1821T>C

ENST00000614096.4:c.1881T>C

ENST00000625778.2:c.1821T>C

ENST00000630424.2:c.1821T>C

ENST00000631247.1:n.370T>C

NM_000462.3:c.1890T>C

NM_130838.1:c.1821T>C

NM_130839.2:c.1881T>C

NM_000462.5:c.1890T>C

NM_001354505.1:c.1881T>C

NM_001354506.1:c.1821T>C

NM_001354507.1:c.1821T>C

NM_001354508.1:c.1821T>C

NM_001354509.1:c.1821T>C

NM_001354511.1:c.1821T>C

NM_001354512.1:c.1821T>C

NM_001354513.1:c.1821T>C

NM_001354523.1:c.1821T>C

NM_001354526.1:c.1821T>C

NM_001354538.1:c.1881T>C

NM_001354539.1:c.1821T>C

NM_001354540.1:c.1821T>C

NM_001354541.1:c.1821T>C

NM_001354542.1:c.1821T>C

NM_001354543.1:c.1821T>C

NM_001354544.1:c.1821T>C

NM_001354545.1:c.1881T>C

NM_001354546.1:c.1704T>C

NM_001354547.1:c.1821T>C

NM_001354548.1:c.1821T>C

NM_001354549.1:c.1821T>C

NM_001354550.1:c.630T>C

NM_001354551.1:c.570T>C

NM_130838.3:c.1821T>C

NM_130839.4:c.1881T>C

NR_146177.1:n.18393-34827A>G

NR_148916.1:n.2425T>C

NM_001354506.2:c.1821T>C

NM_001354507.2:c.1821T>C

NM_001354508.2:c.1821T>C

NM_001354509.2:c.1821T>C

NM_001354511.2:c.1821T>C

NM_001354512.2:c.1821T>C

NM_001354513.2:c.1821T>C

NM_001354523.2:c.1821T>C

NM_001354538.2:c.1881T>C

NM_001354539.2:c.1821T>C

NM_001354540.2:c.1821T>C

NM_001354541.2:c.1821T>C

NM_001354542.2:c.1821T>C

NM_001354543.2:c.1821T>C

NM_001354544.2:c.1821T>C

NM_001354545.2:c.1881T>C

NM_001354546.2:c.1704T>C

NM_001354547.2:c.1821T>C

NM_001354548.2:c.1821T>C

NM_001354549.2:c.1821T>C

NM_001354550.2:c.630T>C

NM_001354551.2:c.570T>C

NM_001374461.1:c.1821T>C

NM_130838.4:c.1821T>C

NR_148916.2:n.2393T>C

Likely Benign

BP7 BS2

PM2 BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Asp607= variant in UBE3A (NM_130838.2) is present in 6 XX and 6 XY individual(s) in gnomAD v4 (0.005%) (not sufficient to meet BS1 criteria). The p.Asp607= variant is observed in at least 4 unaffected individuals (internal database - GeneDx) (BS2). The silent p.Asp627= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Asp607= variant in UBE3A (NM_130838.2) is classified as likely benign based on the ACMG/AMP criteria (BS2, BP7).

BP7

The silent p.Asp627= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). No splicing defect based on Alamut, and spliceAI (=0 for acceptor/donor gain). Not highly conserved based on UCSC genome browser.

BS2

The p.Asp607= variant in UBE3A (NM_130838.2) is observed in at least 4 unaffected individuals (internal database).

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

The p.Asp607= variant in UBE3A (NM_130838.2) is present in 6 XX and 6 XY individual(s) in gnomAD v4 (0.005%) (not sufficient to meet BS1 criteria).

Curation History

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