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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  • See Evidence submitted by expert panel for details.

Variant: NM_130838.3(UBE3A):c.799G>A (p.Val267Ile)

CA16619910

420601 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))
Link to MONDO
UUID: 1a47fed2-6375-4b1e-91c9-5e70e5c6dc27
Approved on: 2021-04-02
Published on: 2021-05-17

HGVS expressions

NM_130838.3:c.799G>A
NM_130838.3(UBE3A):c.799G>A (p.Val267Ile)
ENST00000438097.6:c.799G>A
ENST00000625778.3:c.799G>A
ENST00000635914.1:c.799G>A
ENST00000637886.1:c.859G>A
ENST00000638011.1:c.799G>A
ENST00000638155.1:c.799G>A
ENST00000648336.2:c.859G>A
ENST00000649550.1:c.799G>A
ENST00000650110.1:c.868G>A
ENST00000675000.1:n.1534G>A
ENST00000675177.1:c.682G>A
ENST00000675593.1:n.3555G>A
ENST00000232165.7:c.799G>A
ENST00000397954.6:c.868G>A
ENST00000428984.6:c.799G>A
ENST00000438097.5:c.799G>A
ENST00000566215.5:c.799G>A
ENST00000614096.4:c.859G>A
ENST00000625778.2:c.799G>A
ENST00000630424.2:c.799G>A
NM_000462.3:c.868G>A
NM_130838.1:c.799G>A
NM_130839.2:c.859G>A
NM_000462.5:c.868G>A
NM_001354505.1:c.859G>A
NM_001354506.1:c.799G>A
NM_001354507.1:c.799G>A
NM_001354508.1:c.799G>A
NM_001354509.1:c.799G>A
NM_001354511.1:c.799G>A
NM_001354512.1:c.799G>A
NM_001354513.1:c.799G>A
NM_001354523.1:c.799G>A
NM_001354526.1:c.799G>A
NM_001354538.1:c.859G>A
NM_001354539.1:c.799G>A
NM_001354540.1:c.799G>A
NM_001354541.1:c.799G>A
NM_001354542.1:c.799G>A
NM_001354543.1:c.799G>A
NM_001354544.1:c.799G>A
NM_001354545.1:c.859G>A
NM_001354546.1:c.682G>A
NM_001354547.1:c.799G>A
NM_001354548.1:c.799G>A
NM_001354549.1:c.799G>A
NM_001354550.1:c.361+4150G>A
NM_001354551.1:c.301+4150G>A
NM_130839.4:c.859G>A
NR_146177.1:n.18393-20281C>T
NR_148916.1:n.1407G>A
NM_001354506.2:c.799G>A
NM_001354507.2:c.799G>A
NM_001354508.2:c.799G>A
NM_001354509.2:c.799G>A
NM_001354511.2:c.799G>A
NM_001354512.2:c.799G>A
NM_001354513.2:c.799G>A
NM_001354523.2:c.799G>A
NM_001354538.2:c.859G>A
NM_001354539.2:c.799G>A
NM_001354540.2:c.799G>A
NM_001354541.2:c.799G>A
NM_001354542.2:c.799G>A
NM_001354543.2:c.799G>A
NM_001354544.2:c.799G>A
NM_001354545.2:c.859G>A
NM_001354546.2:c.682G>A
NM_001354547.2:c.799G>A
NM_001354548.2:c.799G>A
NM_001354549.2:c.799G>A
NM_001354550.2:c.361+4150G>A
NM_001354551.2:c.301+4150G>A
NM_001374461.1:c.799G>A
NM_130838.4:c.799G>A
NM_130839.5:c.859G>A
NR_148916.2:n.1375G>A
NC_000015.10:g.25371315C>T
CM000677.2:g.25371315C>T
NC_000015.9:g.25616462C>T
CM000677.1:g.25616462C>T
NC_000015.8:g.23167555C>T
NG_009268.1:g.72667G>A

Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 2
PM2 PS4

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 p.Val267Ile variant in UBE3A is present in one individual in gnomAD (does not meet PM2_supporting or BS1). Computational analysis prediction tools suggests that the p.Val267Ile variant in UBE3A does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Val267Ile variant in UBE3A is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (BP4).
Met criteria codes
BP4
REVEL score 0.09. Computational analysis prediction tools suggests that the p.(Val267Ile) variant does not have a deleterious impact; however this information does not predict clinical significance on its own
Not Met criteria codes
PM2
1 heterozygous occurrence on gnomAD, therefore PM2 is not satisfied
PS4
Variant has not been reported in the published literature
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