Evidence Repository - Clinical Genome Resources

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

Variant: NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA333543

160214 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance (with paternal imprinting (HP:0012274))

Link to MONDO

UUID: 6b1ccf7c-35e1-4ed6-98d0-59145ac754ef

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_130839.5:c.1865A>G

NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)

NC_000015.10:g.25356785T>C

CM000677.2:g.25356785T>C

NC_000015.9:g.25601932T>C

CM000677.1:g.25601932T>C

NC_000015.8:g.23153025T>C

NG_009268.1:g.87197A>G

ENST00000438097.6:c.1805A>G

ENST00000625778.3:c.1805A>G

ENST00000635914.1:c.1805A>G

ENST00000637886.1:c.1865A>G

ENST00000638011.1:c.1805A>G

ENST00000638155.1:c.1805A>G

ENST00000648336.2:c.1865A>G

ENST00000649550.1:c.1805A>G

ENST00000650110.1:c.1874A>G

ENST00000675177.1:c.1688A>G

ENST00000675593.1:n.4561A>G

ENST00000232165.7:c.1805A>G

ENST00000397954.6:c.1874A>G

ENST00000428984.6:c.1805A>G

ENST00000438097.5:c.1805A>G

ENST00000566215.5:c.1805A>G

ENST00000614096.4:c.1865A>G

ENST00000625778.2:c.1805A>G

ENST00000630424.2:c.1805A>G

ENST00000631247.1:n.354A>G

NM_000462.3:c.1874A>G

NM_130838.1:c.1805A>G

NM_130839.2:c.1865A>G

NM_000462.5:c.1874A>G

NM_001354505.1:c.1865A>G

NM_001354506.1:c.1805A>G

NM_001354507.1:c.1805A>G

NM_001354508.1:c.1805A>G

NM_001354509.1:c.1805A>G

NM_001354511.1:c.1805A>G

NM_001354512.1:c.1805A>G

NM_001354513.1:c.1805A>G

NM_001354523.1:c.1805A>G

NM_001354526.1:c.1805A>G

NM_001354538.1:c.1865A>G

NM_001354539.1:c.1805A>G

NM_001354540.1:c.1805A>G

NM_001354541.1:c.1805A>G

NM_001354542.1:c.1805A>G

NM_001354543.1:c.1805A>G

NM_001354544.1:c.1805A>G

NM_001354545.1:c.1865A>G

NM_001354546.1:c.1688A>G

NM_001354547.1:c.1805A>G

NM_001354548.1:c.1805A>G

NM_001354549.1:c.1805A>G

NM_001354550.1:c.614A>G

NM_001354551.1:c.554A>G

NM_130838.3:c.1805A>G

NM_130839.4:c.1865A>G

NR_146177.1:n.18393-34811T>C

NR_148916.1:n.2409A>G

NM_001354506.2:c.1805A>G

NM_001354507.2:c.1805A>G

NM_001354508.2:c.1805A>G

NM_001354509.2:c.1805A>G

NM_001354511.2:c.1805A>G

NM_001354512.2:c.1805A>G

NM_001354513.2:c.1805A>G

NM_001354523.2:c.1805A>G

NM_001354538.2:c.1865A>G

NM_001354539.2:c.1805A>G

NM_001354540.2:c.1805A>G

NM_001354541.2:c.1805A>G

NM_001354542.2:c.1805A>G

NM_001354543.2:c.1805A>G

NM_001354544.2:c.1805A>G

NM_001354545.2:c.1865A>G

NM_001354546.2:c.1688A>G

NM_001354547.2:c.1805A>G

NM_001354548.2:c.1805A>G

NM_001354549.2:c.1805A>G

NM_001354550.2:c.614A>G

NM_001354551.2:c.554A>G

NM_001374461.1:c.1805A>G

NM_130838.4:c.1805A>G

NR_148916.2:n.2377A>G

Uncertain Significance

PM6 PM2_Supporting PS4_Supporting

BP4 PP4 PP3

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The c.1805A>G p.(Asn602Ser) variant in UBE3A (NM_130838.2) is absent from gnomAD (PM2_supporting). The p.(Asn602Ser) variant has been observed in at least 2 individuals with a neurodevelopmental phenotype consistent with UBE3A-related disease (ClinVar SCV000195356.1, SCV000741231.2) (PS4_supporting), where it has been reported as a de novo occurrence (biological parentage unconfirmed) in 1 of these individuals (ClinVar SCV000741231.2) (PM6). Computational prediction analysis tools are inconclusive for this variant. In summary, the c.1805A>G p.(Asn602Ser) variant in UBE3A is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM6_moderate, PS4_supporting, PM2_supporting).

PM6

The p.Asn602Ser variant in UBE3A has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with a neurodevelopmental phenotype consistent with UBE3A (ClinVar SCV000741231.2).

PM2_Supporting

The p.Asn602Ser variant in UBE3A is absent from gnomAD (PM2_supporting).

PS4_Supporting

The p.Asn602Ser variant has been observed in at least 2 individuals with a neurodevelopmental phenotype consistent with UBE3A-related disease (ClinVar SCV000195356.1, SCV000741231.2) (PS4_supporting).

BP4

Computational prediction analysis tools are inconclusive for this variant.

PP4

This variant has been identified in at least 2 patients from external laboratories however the clinical details provided for these patients is insufficient to apply PP4.

PP3

Computational prediction analysis tools are inconclusive for this variant.

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.