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NM_000614.4(CNTF):c.115-6G>A

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 2004
Accession:
VCV000017493.1
Variation ID:
17493
Description:
single nucleotide variant
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NM_000614.4(CNTF):c.115-6G>A

Allele ID
32532
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.1
Genomic location
11: 58624028 (GRCh38) GRCh38 UCSC
11: 58391501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.58624028G>A
NC_000011.9:g.58391501G>A
NM_000614.4:c.115-6G>A
... more HGVS
Protein change
-
Other names
IVS1AS, G-A, -6
Functional consequence
-
Global minor allele frequency (GMAF)
0.12340 (A)

Allele frequency
1000 Genomes Project 0.12340
Trans-Omics for Precision Medicine (TOPMed) 0.11932
Exome Aggregation Consortium (ExAC) 0.14844
The Genome Aggregation Database (gnomAD), exomes 0.14911
The Genome Aggregation Database (gnomAD) 0.12871
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.11338
Links
dbSNP: rs1800169
OMIM: 118945.0001
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
CILIARY NEUROTROPHIC FACTOR POLYMORPHISM
Benign 1 no assertion criteria provided May 1, 2004 RCV000019045.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNTF - - GRCh38
GRCh37
- 7
ZFP91-CNTF - - - GRCh38 - 2

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 01, 2004)
no assertion criteria provided
Method: literature only
CILIARY NEUROTROPHIC FACTOR POLYMORPHISM
Allele origin: germline
OMIM
Accession: SCV000039332.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (6)

Citations for this variant

Title Author Journal Year Link
Ciliary neurotrophic factor (CNTF) genotype and body composition. Jacob AC European journal of human genetics : EJHG 2004 PMID: 14747836
Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males. O'Dell SD European journal of human genetics : EJHG 2002 PMID: 12404108
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Giess R American journal of human genetics 2002 PMID: 11951178
Association of a null mutation in the CNTF gene with early onset of multiple sclerosis. Giess R Archives of neurology 2002 PMID: 11890844
Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease. Gelernter J American journal of medical genetics 1997 PMID: 9342199
A null mutation in the human CNTF gene is not causally related to neurological diseases. Takahashi R Nature genetics 1994 PMID: 8075647

Record last updated Aug 30, 2019