NM_017774.3(CDKAL1):c.371+11426A>C AND Diabetes mellitus type 2

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001037.6

Allele description [Variation Report for NM_017774.3(CDKAL1):c.371+11426A>C]

NM_017774.3(CDKAL1):c.371+11426A>C

Gene:
CDKAL1:CDK5 regulatory subunit associated protein 1 like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.3
Genomic location:
Preferred name:
NM_017774.3(CDKAL1):c.371+11426A>C
HGVS:
  • NC_000006.12:g.20660803A>C
  • NG_021195.1:g.131347A>C
  • NM_017774.3:c.371+11426A>C
  • NC_000006.11:g.20661034A>C
Links:
OMIM: 611259.0001; dbSNP: rs10946398
NCBI 1000 Genomes Browser:
rs10946398
Molecular consequence:
  • NM_017774.3:c.371+11426A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Diabetes mellitus type 2 (NIDDM)
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; NIDDM diabetes mellitus; See all synonyms [MedGen]
Identifiers:
MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021187OMIMno assertion criteria providedUncertain significance
(Sep 1, 2014)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research., Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, et al.

Science. 2007 Jun 1;316(5829):1331-6. Epub 2007 Apr 26.

PubMed [citation]
PMID:
17463246

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, et al.

Science. 2007 Jun 1;316(5829):1336-41. Epub 2007 Apr 26. Erratum in: Science. 2007 Aug 24;317(5841):1035-6.

PubMed [citation]
PMID:
17463249
PMCID:
PMC3772310
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000021187.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

This variant, formerly titled DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO, has been reclassified because this SNP has not been shown to be the causal variant accounting for association.

In genomewide association studies of type 2 diabetes (125853), the Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research (2007), Zeggini et al. (2007), and Scott et al. (2007) identified association of the C allele of a SNP in intron 5 of the CDKAL1 gene, rs10946398, or of its proxy, rs7754840, with type 2 diabetes. Across these studies, all groups cited evidence for association at this marker of P approximately equal to 4.1 x 10(-11).

Zhou et al. (2014) found that expression of CDKAL1v1, but not full-length CDKAL1, was significantly reduced in individuals homozygous for the C allele of rs10946398. Human embryonic fibroblast cell lines homozygous for both the C allele of rs10946398 and the G allele of rs7756992 (611259.0002) showed decreased expression of CDKAL1v1, but not CDKAL1. Zhou et al. (2014) hypothesized that the risk alleles of rs10946398 and rs7756992 influence alternative splicing of the CDKAL1 gene.

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

Last Updated: Mar 30, 2019

Support Center