Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_017774.3(CDKAL1):c.371+11642G>C

Help
Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 7, 2020)
Last evaluated:
Dec 26, 2019
Accession:
VCV000812171.1
Variation ID:
812171
Description:
single nucleotide variant
Help

NM_017774.3(CDKAL1):c.371+11642G>C

Allele ID
800417
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p22.3
Genomic location
6: 20661019 (GRCh38) GRCh38 UCSC
6: 20661250 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.20661250G>C
NC_000006.12:g.20661019G>C
NG_021195.1:g.131563G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:20661018:G:C
Functional consequence
Increased function
Global minor allele frequency (GMAF)
0.40535 (C)

Allele frequency
1000 Genomes Project 0.40535
Trans-Omics for Precision Medicine (TOPMed) 0.40107
Links
dbSNP: rs7754840
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
risk factor 1 no assertion criteria provided Dec 26, 2019 RCV001002802.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDKAL1 - - GRCh38
GRCh37
23 39

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(Dec 26, 2019)
no assertion criteria provided
Method: clinical testing
Obesity
(Genetic anticipation)
Allele origin: unknown
Department of Endocrinology,The Second Hospital of Jilin University
Accession: SCV001134937.1
Submitted: (Feb 07, 2020)
Evidence details
Comment:
We found that loci CDKAL1 (rs7754840) may be associated with obesity-related indicators.

Functional evidence

Help
Functional consequence Method Result Submitter Supporting information
Increased function
Department of Endocrinology,The Second Hospital of Jilin University
Accession: SCV001134937.1
Submitted: (Feb 07, 2020)
Evidence details

Citations for this variant

Help
Title Author Journal Year Link
Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients. Kang J BMC medical genetics 2020 PMID: 32228543

Text-mined citations for rs7754840...

Help
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 Sep 06, 2021