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_130838.1(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

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

Likely Pathogenic

Met criteria codes 3
PVS1_Strong PM2_Supporting PP1

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
PM2_Supporting
The c.2065-1G>A variant in UBE3A is absent from gnomAD
PP1
The variant has been reported to segregate in two informative meioses (internal database)
Approved on: 2021-03-26
Published on: 2021-05-17
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