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]

Link to SEPIO compliant JSON-LD document

Variant: NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)

CA291608

137883 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

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

Link to MONDO

UUID: c4e07420-1f93-4eaf-8382-ad2bcaab69b2

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_130839.5:c.1179T>C

NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)

NC_000015.10:g.25370995A>G

CM000677.2:g.25370995A>G

NC_000015.9:g.25616142A>G

CM000677.1:g.25616142A>G

NC_000015.8:g.23167235A>G

NG_009268.1:g.72987T>C

ENST00000438097.6:c.1119T>C

ENST00000625778.3:c.1119T>C

ENST00000635914.1:c.1119T>C

ENST00000637886.1:c.1179T>C

ENST00000638011.1:c.1119T>C

ENST00000638155.1:c.1119T>C

ENST00000648336.2:c.1179T>C

ENST00000649550.1:c.1119T>C

ENST00000650110.1:c.1188T>C

ENST00000675000.1:n.1854T>C

ENST00000675177.1:c.1002T>C

ENST00000675593.1:n.3875T>C

ENST00000232165.7:c.1119T>C

ENST00000397954.6:c.1188T>C

ENST00000428984.6:c.1119T>C

ENST00000438097.5:c.1119T>C

ENST00000566215.5:c.1119T>C

ENST00000614096.4:c.1179T>C

ENST00000625778.2:c.1119T>C

ENST00000630424.2:c.1119T>C

NM_000462.3:c.1188T>C

NM_130838.1:c.1119T>C

NM_130839.2:c.1179T>C

NM_000462.5:c.1188T>C

NM_001354505.1:c.1179T>C

NM_001354506.1:c.1119T>C

NM_001354507.1:c.1119T>C

NM_001354508.1:c.1119T>C

NM_001354509.1:c.1119T>C

NM_001354511.1:c.1119T>C

NM_001354512.1:c.1119T>C

NM_001354513.1:c.1119T>C

NM_001354523.1:c.1119T>C

NM_001354526.1:c.1119T>C

NM_001354538.1:c.1179T>C

NM_001354539.1:c.1119T>C

NM_001354540.1:c.1119T>C

NM_001354541.1:c.1119T>C

NM_001354542.1:c.1119T>C

NM_001354543.1:c.1119T>C

NM_001354544.1:c.1119T>C

NM_001354545.1:c.1179T>C

NM_001354546.1:c.1002T>C

NM_001354547.1:c.1119T>C

NM_001354548.1:c.1119T>C

NM_001354549.1:c.1119T>C

NM_001354550.1:c.361+4470T>C

NM_001354551.1:c.301+4470T>C

NM_130838.3:c.1119T>C

NM_130839.4:c.1179T>C

NR_146177.1:n.18393-20601A>G

NR_148916.1:n.1727T>C

NM_001354506.2:c.1119T>C

NM_001354507.2:c.1119T>C

NM_001354508.2:c.1119T>C

NM_001354509.2:c.1119T>C

NM_001354511.2:c.1119T>C

NM_001354512.2:c.1119T>C

NM_001354513.2:c.1119T>C

NM_001354523.2:c.1119T>C

NM_001354538.2:c.1179T>C

NM_001354539.2:c.1119T>C

NM_001354540.2:c.1119T>C

NM_001354541.2:c.1119T>C

NM_001354542.2:c.1119T>C

NM_001354543.2:c.1119T>C

NM_001354544.2:c.1119T>C

NM_001354545.2:c.1179T>C

NM_001354546.2:c.1002T>C

NM_001354547.2:c.1119T>C

NM_001354548.2:c.1119T>C

NM_001354549.2:c.1119T>C

NM_001354550.2:c.361+4470T>C

NM_001354551.2:c.301+4470T>C

NM_001374461.1:c.1119T>C

NM_130838.4:c.1119T>C

NR_148916.2:n.1695T>C

Likely Benign

BP7 BP4

BS1 PM2

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.1119T>C p.(Asp373=) variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.006% in the European (non-Finnish) sub population (no criteria met). The silent p.(Asp373=) 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.1119T>C p.(Asp373=) variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).

BP7

The silent p.Asp373= 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).

BS1

The p.Asp373= variant in UBE3A is present in gnomAD v2.1.1 at a frequency of 0.006% in the European (non-Finnish) sub population (no criteria met).

PM2

The p.Asp373= variant in UBE3A is present in gnomAD v2.1.1 at a frequency of 0.006% in the European (non-Finnish) sub population (no criteria met).

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