VCV000007865.1 - ClinVar

NC_000011.10:g.73983709C>T

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

risk factor
risk factor (1)

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000011.10:g.73983709C>T

Variation ID: 7865 Accession: VCV000007865.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 11q13.4 11: 73983709 (GRCh38) [ NCBI UCSC ] 11: 73694754 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Nov 14, 2015	Nov 14, 2015	Feb 1, 2005

HGVS

Nucleotide	Protein	Molecular consequence
NC_000011.10:g.73983709C>T
NC_000011.9:g.73694754C>T
NG_011478.1:g.4136G>A

Protein change

Other names

-866G-A

Canonical SPDI

NC_000011.10:73983708:C:T

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.40895 (T)

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD) 0.40164

The Genome Aggregation Database (gnomAD) 0.40319

Trans-Omics for Precision Medicine (TOPMed) 0.40599

1000 Genomes Project 0.40895

1000 Genomes Project 30x 0.41271

Links

ClinGen: CA129034 OMIM: 601693.0001 dbSNP: rs659366 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
UCP2		-	-	GRCh38 GRCh37	118	139

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4	risk factor (1)	no assertion criteria provided	Feb 1, 2005	RCV000023142.3

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
risk factor (Feb 01, 2005) C Contributing to aggregate classification	no assertion criteria provided	OBESITY (BMIQ4), SUSCEPTIBILITY TO	OMIM Accession: SCV000044433.2 First in ClinVar: Apr 04, 2013 Last updated: Nov 14, 2015	Publications: PubMed (2) PubMed: 11381268‚ 15562023 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: Esterbauer et al. (2001) found an association between obesity (BMIQ4; 607447) and a common G/A polymorphism (rs659366) in the UCP2 promoter region at position -866. … (more) Esterbauer et al. (2001) found an association between obesity (BMIQ4; 607447) and a common G/A polymorphism (rs659366) in the UCP2 promoter region at position -866. The G/G and G/A genotypes were more frequent in the obese group than in the never-obese group. Bulotta et al. (2005) studied the distribution of the -866G/A UCP2 SNP in 746 type 2 diabetes patients and 327 healthy unrelated Caucasians from Italy. Compared with -866G/G carriers, a progressively reduced (P = 0.01) risk of type 2 diabetes was observed in -866G/A and -866A/A subjects, with the latter showing an approximately 50% risk reduction (OR = 0.51; 95% CI, 0.3-0.8; p = 0.003). Conversely, the -866G/G genotype was associated with increased risk (OR = 1.31; 95% CI, 1.01-1.71). Overall, the population risk attributable to the UCP2 -866G/G genotype was about 12%. Bulotta et al. (2005) also tested for an effect of the P12A variant of the PPARG2 gene (601487.0002) on diabetes risk given by the UCP2 SNP. After stratifying for the PPARG2 polymorphism, the increased risk conferred by the UCP2 G/G genotype was still evident among P12/P12 homozygous subjects (n = 801; OR = 1.38 ; 95% CI, 1.04-1.83), but seemed to disappear among carriers of the A12 allele (n = 137; OR = 0.87; 95% CI, 0.40-1.91). (less)

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy.	Bulotta A	The Journal of clinical endocrinology and metabolism	2005	PMID: 15562023
A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans.	Esterbauer H	Nature genetics	2001	PMID: 11381268

Text-mined citations for rs659366 ...

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 May 17, 2025