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NM_000594.3(TNF):c.-1037C>T

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Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
2
First in ClinVar:
Sep 9, 2016
Most recent Submission:
Sep 9, 2016
Last evaluated:
Jul 1, 2005
Accession:
VCV000012389.1
Variation ID:
12389
Description:
single nucleotide variant
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NM_000594.3(TNF):c.-1037C>T

Allele ID
27428
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.33
Genomic location
6: 31574705 (GRCh38) GRCh38 UCSC
6: 31542482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.31574705C>T
NC_000006.11:g.31542482C>T
NG_007462.1:g.4133C>T
NG_012010.1:g.7607C>T
Protein change
-
Other names
-850C-T
Canonical SPDI
NC_000006.12:31574704:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.09904 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.07849
The Genome Aggregation Database (gnomAD) 0.08423
Trans-Omics for Precision Medicine (TOPMed) 0.08857
Trans-Omics for Precision Medicine (TOPMed) 0.09353
1000 Genomes Project 0.09904
Links
ClinGen: CA12231312
OMIM: 191160.0005
dbSNP: rs1799724
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Vascular dementia, susceptibility to
risk factor 1 no assertion criteria provided Jul 1, 2005 RCV000013196.3
Alzheimer disease, susceptibility to
risk factor 1 no assertion criteria provided Jul 1, 2005 RCV000013197.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNF - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
14 25

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
risk factor
(Jul 01, 2005)
no assertion criteria provided
Method: literature only
VASCULAR DEMENTIA, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000033443.2
First in ClinVar: Apr 04, 2013
Last updated: Sep 09, 2016
Publications:
PubMed (2)
PubMed: 1127306415895461
Comment on evidence:
McCusker et al. (2001) typed the -850C-T polymorphism (rs1799724) in 242 patients with sporadic Alzheimer disease (104300), 81 patients with vascular dementia, 61 stroke patients … (more)
risk factor
(Jul 01, 2005)
no assertion criteria provided
Method: literature only
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000033444.2
First in ClinVar: Apr 04, 2013
Last updated: Sep 09, 2016
Publications:
PubMed (2)
PubMed: 1127306415895461
Comment on evidence:
McCusker et al. (2001) typed the -850C-T polymorphism (rs1799724) in 242 patients with sporadic Alzheimer disease (104300), 81 patients with vascular dementia, 61 stroke patients … (more)

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
TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels. Laws SM Human mutation 2005 PMID: 15895461
Association between polymorphism in regulatory region of gene encoding tumour necrosis factor alpha and risk of Alzheimer's disease and vascular dementia: a case-control study. McCusker SM Lancet (London, England) 2001 PMID: 11273064

Text-mined citations for rs1799724...

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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 Apr 25, 2022