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

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000156141.6
Variation ID:
156141
Description:
single nucleotide variant
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NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)

Allele ID
165941
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q11.2
Genomic location
15: 25371359 (GRCh38) GRCh38 UCSC
15: 25616506 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.25371359T>C
NC_000015.9:g.25616506T>C
NG_002690.1:g.590450T>C
... more HGVS
Protein change
N252S, N213S, N272S, N275S
Other names
-
Canonical SPDI
NC_000015.10:25371358:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00021
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00017
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00010
Exome Aggregation Consortium (ExAC) 0.00017
Links
ClinGen: CA333443
dbSNP: rs139928148
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 7, 2019 RCV001719911.1
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Nov 18, 2020 RCV000144351.7
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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
36 891
SNHG14 - - GRCh38 - 758

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Angelman syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000195381.1
Submitted: (Sep 11, 2014)
Evidence details
Likely benign
(Nov 07, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616987.2
Submitted: (Sep 30, 2021)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Angelman syndrome
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896438.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Likely benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Angelman syndrome
Allele origin: germline
Invitae
Accession: SCV000754752.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Feb 14, 2014)
no assertion criteria provided
Method: clinical testing
Angelman syndrome
Allele origin: paternal
Baylor Genetics
Study: UBE3A Mutation Study
Accession: SCV000188528.1
Submitted: (Jun 19, 2014)
Comment:
Data collected from clinical UBE3A sequence analysis results
Evidence details
Publications
PubMed (1)
Comment:
possible diagnosis of Angelman syndrome

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Mutation Update for UBE3A variants in Angelman syndrome. Sadikovic B Human mutation 2014 PMID: 25212744

Text-mined citations for rs139928148...

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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 Nov 27, 2021