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NM_130839.5(UBE3A):c.789C>T (p.Asn263=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Feb 16, 2018
Accession:
VCV000499413.1
Variation ID:
499413
Description:
single nucleotide variant
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NM_130839.5(UBE3A):c.789C>T (p.Asn263=)

Allele ID
490837
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q11.2
Genomic location
15: 25371385 (GRCh38) GRCh38 UCSC
15: 25616532 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.25616532G>A
NC_000015.10:g.25371385G>A
NM_130839.5:c.789C>T MANE Select NP_570854.1:p.Asn263= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:25371384:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA489232958
dbSNP: rs1453409055
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 Feb 16, 2018 RCV000591743.3
Uncertain significance 1 criteria provided, single submitter Jan 9, 2017 RCV000727010.1
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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
23 842
SNHG14 - - GRCh38 - 716

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000727612.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Jan 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000704893.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=UBE3A - - - -

Text-mined citations for rs1453409055...

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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 Feb 27, 2021