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NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 10, 2019)
Last evaluated:
Nov 18, 2001
Accession:
VCV000599552.1
Variation ID:
599552
Description:
single nucleotide variant
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NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)

Allele ID
590824
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 19155051 (GRCh38) GRCh38 UCSC
1: 19481545 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.19481545C>T
NC_000001.11:g.19155051C>T
NM_020765.3:c.6325G>A MANE Select NP_065816.2:p.Gly2109Ser missense
NG_027669.1:g.60202G>A
Protein change
G2109S
Other names
-
Canonical SPDI
NC_000001.11:19155050:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs144709443
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 18, 2001 RCV000736190.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UBR4 - - GRCh38
GRCh37
101 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 18, 2001)
no assertion criteria provided
Method: case-control
Short stature
Allele origin: germline
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000864487.1
Submitted: (Jan 10, 2019)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs144709443...

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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 Aug 11, 2021