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]

Link to SEPIO compliant JSON-LD document

Variant: NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)

CA333443

156141 (ClinVar)

Gene: UBE3A

Condition: Angelman syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: bbc83c7e-03be-4647-b643-35aaeb0773ae

HGVS expressions

NM_130839.5:c.815A>G

NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)

NC_000015.10:g.25371359T>C

CM000677.2:g.25371359T>C

NC_000015.9:g.25616506T>C

CM000677.1:g.25616506T>C

NC_000015.8:g.23167599T>C

NG_009268.1:g.72623A>G

ENST00000438097.6:c.755A>G

ENST00000625778.3:c.755A>G

ENST00000635914.1:c.755A>G

ENST00000637886.1:c.815A>G

ENST00000638011.1:c.755A>G

ENST00000638155.1:c.755A>G

ENST00000648336.2:c.815A>G

ENST00000649550.1:c.755A>G

ENST00000650110.1:c.824A>G

ENST00000675000.1:n.1490A>G

ENST00000675177.1:c.638A>G

ENST00000675593.1:n.3511A>G

ENST00000232165.7:c.755A>G

ENST00000397954.6:c.824A>G

ENST00000428984.6:c.755A>G

ENST00000438097.5:c.755A>G

ENST00000566215.5:c.755A>G

ENST00000614096.4:c.815A>G

ENST00000625778.2:c.755A>G

ENST00000630424.2:c.755A>G

NM_000462.3:c.824A>G

NM_130838.1:c.755A>G

NM_130839.2:c.815A>G

NM_000462.5:c.824A>G

NM_001354505.1:c.815A>G

NM_001354506.1:c.755A>G

NM_001354507.1:c.755A>G

NM_001354508.1:c.755A>G

NM_001354509.1:c.755A>G

NM_001354511.1:c.755A>G

NM_001354512.1:c.755A>G

NM_001354513.1:c.755A>G

NM_001354523.1:c.755A>G

NM_001354526.1:c.755A>G

NM_001354538.1:c.815A>G

NM_001354539.1:c.755A>G

NM_001354540.1:c.755A>G

NM_001354541.1:c.755A>G

NM_001354542.1:c.755A>G

NM_001354543.1:c.755A>G

NM_001354544.1:c.755A>G

NM_001354545.1:c.815A>G

NM_001354546.1:c.638A>G

NM_001354547.1:c.755A>G

NM_001354548.1:c.755A>G

NM_001354549.1:c.755A>G

NM_001354550.1:c.361+4106A>G

NM_001354551.1:c.301+4106A>G

NM_130838.3:c.755A>G

NM_130839.4:c.815A>G

NR_146177.1:n.18393-20237T>C

NR_148916.1:n.1363A>G

NM_001354506.2:c.755A>G

NM_001354507.2:c.755A>G

NM_001354508.2:c.755A>G

NM_001354509.2:c.755A>G

NM_001354511.2:c.755A>G

NM_001354512.2:c.755A>G

NM_001354513.2:c.755A>G

NM_001354523.2:c.755A>G

NM_001354538.2:c.815A>G

NM_001354539.2:c.755A>G

NM_001354540.2:c.755A>G

NM_001354541.2:c.755A>G

NM_001354542.2:c.755A>G

NM_001354543.2:c.755A>G

NM_001354544.2:c.755A>G

NM_001354545.2:c.815A>G

NM_001354546.2:c.638A>G

NM_001354547.2:c.755A>G

NM_001354548.2:c.755A>G

NM_001354549.2:c.755A>G

NM_001354550.2:c.361+4106A>G

NM_001354551.2:c.301+4106A>G

NM_001374461.1:c.755A>G

NM_130838.4:c.755A>G

NR_148916.2:n.1331A>G

Benign

BP4 BS1 BS2

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 allele frequency of the p.Asn272Ser variant in UBE3A is 0.013% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Asn272Ser variant is observed in at least 4 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Asn272Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Asn272Ser variant in UBE3A is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP4).

BP4

Computational analysis prediction tools suggest that the p.Asn272Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own

BS1

BS2

The p.Asn272Ser variant is observed in at least 4 unaffected individuals (internal database)

Approved on: 2022-08-25

Published on: 2022-09-06

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