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]
  • See Evidence submitted by expert panel for details.

Variant: NM_130838.1(UBE3A):c.2065-1G>A

CA16619904

421239 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))
Link to MONDO
UUID: c96a13e3-5540-405f-9036-7a16cf6dc64d
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_130838.1:c.2065-1G>A
NM_130838.1(UBE3A):c.2065-1G>A
ENST00000438097.6:c.2065-1G>A
ENST00000625778.3:c.2065-1G>A
ENST00000635914.1:c.2065-1G>A
ENST00000637886.1:c.2125-1G>A
ENST00000638011.1:c.2065-1G>A
ENST00000638155.1:c.2065-1G>A
ENST00000648336.2:c.2125-1G>A
ENST00000649550.1:c.2065-1G>A
ENST00000650110.1:c.2134-1G>A
ENST00000675177.1:c.1948-1G>A
ENST00000675593.1:n.4821-1G>A
ENST00000232165.7:c.2065-1G>A
ENST00000397954.6:c.2134-1G>A
ENST00000428984.6:c.2065-1G>A
ENST00000438097.5:c.2065-1G>A
ENST00000566215.5:c.2065-1G>A
ENST00000604860.3:n.76-1G>A
ENST00000614096.4:c.2125-1G>A
ENST00000625778.2:c.2065-1G>A
ENST00000626176.2:n.92-258G>A
ENST00000630424.2:c.2065-1G>A
ENST00000631247.1:n.614-1G>A
NM_000462.3:c.2134-1G>A
NM_130839.2:c.2125-1G>A
NM_000462.5:c.2134-1G>A
NM_001354505.1:c.2125-1G>A
NM_001354506.1:c.2065-1G>A
NM_001354507.1:c.2065-1G>A
NM_001354508.1:c.2065-1G>A
NM_001354509.1:c.2065-1G>A
NM_001354511.1:c.2065-1G>A
NM_001354512.1:c.2065-1G>A
NM_001354513.1:c.2065-1G>A
NM_001354523.1:c.2065-1G>A
NM_001354526.1:c.2065-1G>A
NM_001354538.1:c.2125-1G>A
NM_001354539.1:c.2065-1G>A
NM_001354540.1:c.2065-1G>A
NM_001354541.1:c.2065-1G>A
NM_001354542.1:c.2065-1G>A
NM_001354543.1:c.2065-1G>A
NM_001354544.1:c.2065-1G>A
NM_001354545.1:c.2125-258G>A
NM_001354546.1:c.1948-1G>A
NM_001354547.1:c.2065-258G>A
NM_001354548.1:c.2065-258G>A
NM_001354549.1:c.1900-1G>A
NM_001354550.1:c.874-1G>A
NM_001354551.1:c.814-1G>A
NM_130838.3:c.2065-1G>A
NM_130839.4:c.2125-1G>A
NR_146177.1:n.18393-36912C>T
NR_148916.1:n.2669-1G>A
NM_001354506.2:c.2065-1G>A
NM_001354507.2:c.2065-1G>A
NM_001354508.2:c.2065-1G>A
NM_001354509.2:c.2065-1G>A
NM_001354511.2:c.2065-1G>A
NM_001354512.2:c.2065-1G>A
NM_001354513.2:c.2065-1G>A
NM_001354523.2:c.2065-1G>A
NM_001354538.2:c.2125-1G>A
NM_001354539.2:c.2065-1G>A
NM_001354540.2:c.2065-1G>A
NM_001354541.2:c.2065-1G>A
NM_001354542.2:c.2065-1G>A
NM_001354543.2:c.2065-1G>A
NM_001354544.2:c.2065-1G>A
NM_001354545.2:c.2125-258G>A
NM_001354546.2:c.1948-1G>A
NM_001354547.2:c.2065-258G>A
NM_001354548.2:c.2065-258G>A
NM_001354549.2:c.1900-1G>A
NM_001354550.2:c.874-1G>A
NM_001354551.2:c.814-1G>A
NM_001374461.1:c.2065-1G>A
NM_130838.4:c.2065-1G>A
NM_130839.5:c.2125-1G>A
NR_148916.2:n.2637-1G>A
NC_000015.10:g.25354684C>T
CM000677.2:g.25354684C>T
NC_000015.9:g.25599831C>T
CM000677.1:g.25599831C>T
NC_000015.8:g.23150924C>T
NG_009268.1:g.89298G>A
More

Likely Pathogenic

Met criteria codes 3
PVS1_Strong PP1 PM2_Supporting

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.2065-1G>A variant in UBE3A is predicted to affect a canonical splice site and lead to a truncated or absent protein in a gene where loss-of-function is an established mechanism. However, this splice site variant may result in an in-frame loss of the corresponding exon in which pathogenic variants have been observed in affected individuals (PVS1_Strong). The c.2065-1G>A variant in UBE3A is absent from gnomAD (PM2_Supporting). The variant has been reported to segregate in two informative meioses (internal database) (PP1). In summary, the c.2065-1G>A variant in UBE3A is classified as likely pathogenic for Angelman syndrome based on the ACMG/AMP criteria (PVS1_strong, PM2_supporting, PP1).
Met criteria codes
PVS1_Strong
The c.2065-1G>A variant in UBE3A is predicted to affect a canonical splice site and lead to a truncated or absent protein in a gene where loss-of-function is an established mechanism. However, this splice site variant may result in an in-frame loss of the corresponding exon in which pathogenic variants have been observed in affected individuals
PP1
The variant has been reported to segregate in two informative meioses (internal database)
PM2_Supporting
The c.2065-1G>A variant in UBE3A is absent from gnomAD
Curation History
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