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NM_003376.6(VEGFA):c.-94C>G AND Microvascular complications of diabetes, susceptibility to, 1

Germline classification:
risk factor (1 submission)
Last evaluated:
May 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000013007.11

Allele description [Variation Report for NM_003376.6(VEGFA):c.-94C>G]

NM_003376.6(VEGFA):c.-94C>G

Genes:
POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
VEGFA:vascular endothelial growth factor A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_003376.6(VEGFA):c.-94C>G
HGVS:
  • NC_000006.12:g.43770613C>G
  • NG_008732.1:g.5398C>G
  • NG_028283.4:g.258526C>G
  • NG_108304.2:g.78C>G
  • NM_001025366.3:c.-94C>G
  • NM_001025367.3:c.-94C>G
  • NM_001025368.3:c.-94C>G
  • NM_001025369.3:c.-94C>G
  • NM_001025370.3:c.-94C>G
  • NM_001033756.3:c.-94C>G
  • NM_001171622.2:c.-94C>G
  • NM_001171623.2:c.-634C>G
  • NM_001171624.2:c.-634C>G
  • NM_001171625.2:c.-634C>G
  • NM_001171626.2:c.-634C>G
  • NM_001171627.2:c.-634C>G
  • NM_001171628.2:c.-634C>G
  • NM_001171629.2:c.-634C>G
  • NM_001171630.2:c.-634C>G
  • NM_001204384.2:c.-634C>G
  • NM_001204385.2:c.-94C>G
  • NM_001317010.2:c.-634C>G
  • NM_001318876.2:c.945+241342C>G
  • NM_003376.6:c.-94C>GMANE SELECT
  • NC_000006.11:g.43738350C>G
  • NG_108304.1:g.78C>G
  • NM_001317010.1:c.-634C>G
Nucleotide change:
-634G-C, (rs2010963)
Links:
OMIM: 192240.0001; dbSNP: rs2010963
NCBI 1000 Genomes Browser:
rs2010963
Molecular consequence:
  • NM_001025366.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001025367.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001025368.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001025369.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001025370.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001033756.3:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171622.2:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171623.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171624.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171625.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171626.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171627.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171628.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171629.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001171630.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001204384.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001204385.2:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317010.2:c.-634C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_003376.6:c.-94C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318876.2:c.945+241342C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Microvascular complications of diabetes, susceptibility to, 1
Synonyms:
Microvascular complications of diabetes 1
Identifiers:
MONDO: MONDO:0011386; MedGen: C2676832; OMIM: 603933

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033252OMIM
no assertion criteria provided
risk factor
(May 1, 2002) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes.

Awata T, Inoue K, Kurihara S, Ohkubo T, Watanabe M, Inukai K, Inoue I, Katayama S.

Diabetes. 2002 May;51(5):1635-9.

PubMed [citation]
PMID:
11978667

Details of each submission

From OMIM, SCV000033252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Awata et al. (2002) studied the -634G-C polymorphism of the VEGF gene in type 2 diabetes (125853) patients with proliferative and nonproliferative diabetic retinopathy (MVCD1; 603933) and compared the genotype frequencies with controls (patients without retinopathy). The odds ratio for the CC genotype to the GG genotype was 3.20 (95% CI, 1.45-7.05; p = 0.0046). The -634C allele was significantly increased in patients with nonproliferative diabetic retinopathy (p = 0.0026) and was insignificantly increased in patients with proliferative diabetic retinopathy compared with patients without retinopathy, although frequencies of the allele did not differ significantly between the nonproliferative and proliferative diabetic retinopathy groups. Logistic regression analysis revealed that the -634G-C polymorphism was strongly associated with an increased risk of retinopathy. Furthermore, VEGF serum levels were significantly higher in healthy subjects with the CC genotype of the polymorphism than in those with other genotypes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024