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NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 25, 2020
Accession:
VCV000446052.4
Variation ID:
446052
Description:
single nucleotide variant
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NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)

Allele ID
439324
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q11.2
Genomic location
15: 25370670 (GRCh38) GRCh38 UCSC
15: 25615817 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.25370670G>A
NC_000015.9:g.25615817G>A
NG_002690.1:g.589761G>A
... more HGVS
Protein change
R482*, R502*, R505*, R443*
Other names
-
Canonical SPDI
NC_000015.10:25370669:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA391353439
dbSNP: rs1555399937
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 6, 2017 RCV000514203.2
Pathogenic 1 criteria provided, single submitter Jan 25, 2020 RCV001044278.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UBE3A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
33 871
SNHG14 - - GRCh38 - 735

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000611021.1
Submitted: (Oct 05, 2017)
Evidence details
Pathogenic
(Jan 25, 2020)
criteria provided, single submitter
Method: clinical testing
Angelman syndrome
Allele origin: germline
Invitae
Accession: SCV001208068.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Arg482*) in the UBE3A gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation Update for UBE3A variants in Angelman syndrome. Sadikovic B Human mutation 2014 PMID: 25212744
Mutation analysis of UBE3A in Angelman syndrome patients. Malzac P American journal of human genetics 1998 PMID: 9585605

Text-mined citations for rs1555399937...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021