Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003356.3(UCP3):c.427C>T (p.Arg143Ter)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Oct 1, 1998
Accession:
VCV000007577.1
Variation ID:
7577
Description:
single nucleotide variant
Help

NM_003356.3(UCP3):c.427C>T (p.Arg143Ter)

Allele ID
22616
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 74005844 (GRCh38) GRCh38 UCSC
11: 73716889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.73716889G>A
NC_000011.10:g.74005844G>A
NM_003356.3:c.427C>T NP_003347.1:p.Arg143Ter nonsense
NG_011515.1:g.8394C>T
Protein change
R143*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00061
1000 Genomes Project 0.00280
Trans-Omics for Precision Medicine (TOPMed) 0.00182
Exome Aggregation Consortium (ExAC) 0.00065
The Genome Aggregation Database (gnomAD) 0.00178
Links
OMIM: 602044.0002
dbSNP: rs104894319
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 1, 1998 RCV000008014.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UCP3 - - GRCh38
GRCh37
6 19

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 01, 1998)
no assertion criteria provided
Method: literature only
OBESITY, SEVERE, AND TYPE II DIABETES
Allele origin: germline
OMIM
Accession: SCV000028219.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. Argyropoulos G The Journal of clinical investigation 1998 PMID: 9769326

Record last updated Jun 17, 2019