The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

Variant: NM_130838.3(UBE3A):c.1344A>G (p.Thr448=)

CA202443

137885 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))
UUID: 51ae3d53-3eb4-4e33-8f42-c4e08e83eb1f
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_130838.3:c.1344A>G
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=)
ENST00000438097.6:c.1344A>G
ENST00000625778.3:c.1344A>G
ENST00000635914.1:c.1344A>G
ENST00000637886.1:c.1404A>G
ENST00000638011.1:c.1344A>G
ENST00000638155.1:c.1344A>G
ENST00000648336.2:c.1404A>G
ENST00000649550.1:c.1344A>G
ENST00000650110.1:c.1413A>G
ENST00000675000.1:n.2079A>G
ENST00000675177.1:c.1227A>G
ENST00000675593.1:n.4100A>G
ENST00000232165.7:c.1344A>G
ENST00000397954.6:c.1413A>G
ENST00000428984.6:c.1344A>G
ENST00000438097.5:c.1344A>G
ENST00000566215.5:c.1344A>G
ENST00000614096.4:c.1404A>G
ENST00000625778.2:c.1344A>G
ENST00000630424.2:c.1344A>G
NM_000462.3:c.1413A>G
NM_130838.1:c.1344A>G
NM_130839.2:c.1404A>G
NM_000462.5:c.1413A>G
NM_001354505.1:c.1404A>G
NM_001354506.1:c.1344A>G
NM_001354507.1:c.1344A>G
NM_001354508.1:c.1344A>G
NM_001354509.1:c.1344A>G
NM_001354511.1:c.1344A>G
NM_001354512.1:c.1344A>G
NM_001354513.1:c.1344A>G
NM_001354523.1:c.1344A>G
NM_001354526.1:c.1344A>G
NM_001354538.1:c.1404A>G
NM_001354539.1:c.1344A>G
NM_001354540.1:c.1344A>G
NM_001354541.1:c.1344A>G
NM_001354542.1:c.1344A>G
NM_001354543.1:c.1344A>G
NM_001354544.1:c.1344A>G
NM_001354545.1:c.1404A>G
NM_001354546.1:c.1227A>G
NM_001354547.1:c.1344A>G
NM_001354548.1:c.1344A>G
NM_001354549.1:c.1344A>G
NM_001354550.1:c.361+4695A>G
NM_001354551.1:c.301+4695A>G
NM_130839.4:c.1404A>G
NR_146177.1:n.18393-20826T>C
NR_148916.1:n.1952A>G
NM_001354506.2:c.1344A>G
NM_001354507.2:c.1344A>G
NM_001354508.2:c.1344A>G
NM_001354509.2:c.1344A>G
NM_001354511.2:c.1344A>G
NM_001354512.2:c.1344A>G
NM_001354513.2:c.1344A>G
NM_001354523.2:c.1344A>G
NM_001354538.2:c.1404A>G
NM_001354539.2:c.1344A>G
NM_001354540.2:c.1344A>G
NM_001354541.2:c.1344A>G
NM_001354542.2:c.1344A>G
NM_001354543.2:c.1344A>G
NM_001354544.2:c.1344A>G
NM_001354545.2:c.1404A>G
NM_001354546.2:c.1227A>G
NM_001354547.2:c.1344A>G
NM_001354548.2:c.1344A>G
NM_001354549.2:c.1344A>G
NM_001354550.2:c.361+4695A>G
NM_001354551.2:c.301+4695A>G
NM_001374461.1:c.1344A>G
NM_130838.4:c.1344A>G
NM_130839.5:c.1404A>G
NR_148916.2:n.1920A>G
NC_000015.10:g.25370770T>C
CM000677.2:g.25370770T>C
NC_000015.9:g.25615917T>C
CM000677.1:g.25615917T>C
NC_000015.8:g.23167010T>C
NG_009268.1:g.73212A>G
More

Benign

Met criteria codes 2
BP7 BA1

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 allele frequency of the p.Thr448= variant in UBE3A is 1.9% in the East Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The silent p.Thr448= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Thr448= variant in UBE3A is classified as benign based on the ACMG/AMP criteria (BA1, BP7).
Met criteria codes
BP7
The silent p.Thr448= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide
BA1
The allele frequency of the p.Thr448= variant in UBE3A is 1.9% in the East Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
Curation History
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