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.2344G>A (p.Val782Ile)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA173814

156124 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

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

Link to MONDO

UUID: 1dfb40bb-2608-4082-bd94-5398bca77095

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_130839.5:c.2344G>A

NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)

NC_000015.10:g.25354363C>T

CM000677.2:g.25354363C>T

NC_000015.9:g.25599510C>T

CM000677.1:g.25599510C>T

NC_000015.8:g.23150603C>T

NG_009268.1:g.89619G>A

ENST00000438097.6:c.2284G>A

ENST00000625778.3:c.2284G>A

ENST00000635914.1:c.2284G>A

ENST00000637886.1:c.2344G>A

ENST00000638011.1:c.2284G>A

ENST00000638155.1:c.2284G>A

ENST00000648336.2:c.2344G>A

ENST00000649550.1:c.2284G>A

ENST00000650110.1:c.2353G>A

ENST00000675177.1:c.2167G>A

ENST00000675593.1:n.5040G>A

ENST00000232165.7:c.2284G>A

ENST00000397954.6:c.2353G>A

ENST00000428984.6:c.2284G>A

ENST00000438097.5:c.2284G>A

ENST00000566215.5:c.2284G>A

ENST00000604860.3:n.295G>A

ENST00000614096.4:c.2344G>A

ENST00000625778.2:c.2284G>A

ENST00000626176.2:n.155G>A

ENST00000630424.2:c.2284G>A

NM_000462.3:c.2353G>A

NM_130838.1:c.2284G>A

NM_130839.2:c.2344G>A

NM_000462.5:c.2353G>A

NM_001354505.1:c.2344G>A

NM_001354506.1:c.2284G>A

NM_001354507.1:c.2284G>A

NM_001354508.1:c.2284G>A

NM_001354509.1:c.2284G>A

NM_001354511.1:c.2284G>A

NM_001354512.1:c.2284G>A

NM_001354513.1:c.2284G>A

NM_001354523.1:c.2284G>A

NM_001354526.1:c.2284G>A

NM_001354538.1:c.2344G>A

NM_001354539.1:c.2284G>A

NM_001354540.1:c.2284G>A

NM_001354541.1:c.2284G>A

NM_001354542.1:c.2284G>A

NM_001354543.1:c.2284G>A

NM_001354544.1:c.2284G>A

NM_001354545.1:c.2188G>A

NM_001354546.1:c.2167G>A

NM_001354547.1:c.2128G>A

NM_001354548.1:c.2128G>A

NM_001354549.1:c.2119G>A

NM_001354550.1:c.1093G>A

NM_001354551.1:c.1033G>A

NM_130838.3:c.2284G>A

NM_130839.4:c.2344G>A

NR_146177.1:n.18393-37233C>T

NR_148916.1:n.2888G>A

NM_001354506.2:c.2284G>A

NM_001354507.2:c.2284G>A

NM_001354508.2:c.2284G>A

NM_001354509.2:c.2284G>A

NM_001354511.2:c.2284G>A

NM_001354512.2:c.2284G>A

NM_001354513.2:c.2284G>A

NM_001354523.2:c.2284G>A

NM_001354538.2:c.2344G>A

NM_001354539.2:c.2284G>A

NM_001354540.2:c.2284G>A

NM_001354541.2:c.2284G>A

NM_001354542.2:c.2284G>A

NM_001354543.2:c.2284G>A

NM_001354544.2:c.2284G>A

NM_001354545.2:c.2188G>A

NM_001354546.2:c.2167G>A

NM_001354547.2:c.2128G>A

NM_001354548.2:c.2128G>A

NM_001354549.2:c.2119G>A

NM_001354550.2:c.1093G>A

NM_001354551.2:c.1033G>A

NM_001374461.1:c.2284G>A

NM_130838.4:c.2284G>A

NR_148916.2:n.2856G>A

Uncertain Significance

BP4

PS4 PM2 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 c.2284G>A p.(Val762Ile) variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.004% in the African/African-American sub population (no criteria met). The p.(Val762Ile) variant has been observed in at least 1 individual with a neurodevelopmental phenotype consistent with UBE3A-related disease (PMID 25212744), however the PS4 criteria cannot be applied due to the gnomAD frequency of this variant. Computational analysis prediction tools suggest that the p.(Val762Ile) variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the c.2284G>A p.(Val762Ile) variant in UBE3A is classified as a Variant of Uncertain Signficance based on the ACMG/AMP criteria (BP4).

BP4

Computational analysis prediction tools suggest that the p.Val762Ile variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

PS4

The p.Val762Ile variant has been observed in at least 1 individual with a neurodevelopmental phenotype consistent with UBE3A-related disease (PMID 25212744), however the PS4 criteria cannot be applied due to the gnomAD frequency of this variant.

PM2

The p.Val762Ile variant in UBE3A is present in gnomAD v2.1.1 at a frequency of 0.004% in the African/African-American sub population (no criteria met).

BS1

The p.Val762Ile variant in UBE3A is present in gnomAD v2.1.1 at a frequency of 0.004% in the African/African-American sub population (no criteria met).

Curation History

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