Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)

CA16606643

378843 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 368dce9e-5faf-4081-a47b-86f65f9c96b4
Approved on: 2023-06-16
Published on: 2023-06-21

HGVS expressions

NM_130839.5:c.1272C>T
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)
NC_000015.10:g.25370902G>A
CM000677.2:g.25370902G>A
NC_000015.9:g.25616049G>A
CM000677.1:g.25616049G>A
NC_000015.8:g.23167142G>A
NG_009268.1:g.73080C>T
ENST00000438097.6:c.1212C>T
ENST00000625778.3:c.1212C>T
ENST00000635914.1:c.1212C>T
ENST00000637886.1:c.1272C>T
ENST00000638011.1:c.1212C>T
ENST00000638155.1:c.1212C>T
ENST00000648336.2:c.1272C>T
ENST00000649550.1:c.1212C>T
ENST00000650110.1:c.1281C>T
ENST00000675000.1:n.1947C>T
ENST00000675177.1:c.1095C>T
ENST00000675593.1:n.3968C>T
ENST00000232165.7:c.1212C>T
ENST00000397954.6:c.1281C>T
ENST00000428984.6:c.1212C>T
ENST00000438097.5:c.1212C>T
ENST00000566215.5:c.1212C>T
ENST00000614096.4:c.1272C>T
ENST00000625778.2:c.1212C>T
ENST00000630424.2:c.1212C>T
NM_000462.3:c.1281C>T
NM_130838.1:c.1212C>T
NM_130839.2:c.1272C>T
NM_000462.5:c.1281C>T
NM_001354505.1:c.1272C>T
NM_001354506.1:c.1212C>T
NM_001354507.1:c.1212C>T
NM_001354508.1:c.1212C>T
NM_001354509.1:c.1212C>T
NM_001354511.1:c.1212C>T
NM_001354512.1:c.1212C>T
NM_001354513.1:c.1212C>T
NM_001354523.1:c.1212C>T
NM_001354526.1:c.1212C>T
NM_001354538.1:c.1272C>T
NM_001354539.1:c.1212C>T
NM_001354540.1:c.1212C>T
NM_001354541.1:c.1212C>T
NM_001354542.1:c.1212C>T
NM_001354543.1:c.1212C>T
NM_001354544.1:c.1212C>T
NM_001354545.1:c.1272C>T
NM_001354546.1:c.1095C>T
NM_001354547.1:c.1212C>T
NM_001354548.1:c.1212C>T
NM_001354549.1:c.1212C>T
NM_001354550.1:c.361+4563C>T
NM_001354551.1:c.301+4563C>T
NM_130838.3:c.1212C>T
NM_130839.4:c.1272C>T
NR_146177.1:n.18393-20694G>A
NR_148916.1:n.1820C>T
NM_001354506.2:c.1212C>T
NM_001354507.2:c.1212C>T
NM_001354508.2:c.1212C>T
NM_001354509.2:c.1212C>T
NM_001354511.2:c.1212C>T
NM_001354512.2:c.1212C>T
NM_001354513.2:c.1212C>T
NM_001354523.2:c.1212C>T
NM_001354538.2:c.1272C>T
NM_001354539.2:c.1212C>T
NM_001354540.2:c.1212C>T
NM_001354541.2:c.1212C>T
NM_001354542.2:c.1212C>T
NM_001354543.2:c.1212C>T
NM_001354544.2:c.1212C>T
NM_001354545.2:c.1272C>T
NM_001354546.2:c.1095C>T
NM_001354547.2:c.1212C>T
NM_001354548.2:c.1212C>T
NM_001354549.2:c.1212C>T
NM_001354550.2:c.361+4563C>T
NM_001354551.2:c.301+4563C>T
NM_001374461.1:c.1212C>T
NM_130838.4:c.1212C>T
NR_148916.2:n.1788C>T
More

Likely Benign

Met criteria codes 2
BP4 BP7
Not Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The c.1212C>T p.Pro404= variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0062% in the European (non-Finnish) sub population (no criteria met). The silent p.Pro404= 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.1212C>T p.Pro404= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).
Met criteria codes
BP4
The silent p.(Pro404=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
BP7
The silent p.(Pro404=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
Not Met criteria codes
BS1
The c.1212C>T p.(Pro404=) variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0062% in the European (non-Finnish) sub population (no criteria met).
Curation History
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