NM_000162.5(GCK):c.483+2_483+16del AND Maturity-onset diabetes of the young type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 1993
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:: RCV002286425.1

Allele description [Variation Report for NM_000162.5(GCK):c.483+2_483+16del]

NM_000162.5(GCK):c.483+2_483+16del

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.483+2_483+16del

HGVS:

NC_000007.14:g.44150940_44150954del
NC_000007.14:g.44150943_44150957del
NG_008847.2:g.52217_52231del
NM_000162.5:c.483+2_483+16delMANE SELECT
NM_001354800.1:c.483+2_483+16del
NM_033507.3:c.486+2_486+16del
NM_033508.3:c.480+2_480+16del
LRG_1074t1:c.483+2_483+16del
LRG_1074t2:c.486+2_486+16del
LRG_1074:g.52217_52231del
NC_000007.13:g.44190542_44190556del
NC_000007.14:g.44150943_44150957del
NM_000162.3:c.483+2_483+16del

Links:

OMIM: 138079.0006; dbSNP: rs1583601110

NCBI 1000 Genomes Browser:

rs1583601110

Molecular consequence:

NM_000162.5:c.483+2_483+16del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354800.1:c.483+2_483+16del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_033507.3:c.486+2_486+16del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_033508.3:c.480+2_480+16del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Maturity-onset diabetes of the young type 2
Synonyms:: MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037789	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037789

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1993)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.

Sun F, Knebelmann B, Pueyo ME, Zouali H, Lesage S, Vaxillaire M, Passa P, Cohen D, Velho G, Antignac C, et al.

J Clin Invest. 1993 Sep;92(3):1174-80.

PubMed [citation]

PMID:: 8376578
PMCID:: PMC288255

Details of each submission

From OMIM, SCV000037789.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Sun et al. (1993) analyzed the nucleotide sequence of exon 4 and its flanking intronic regions of the GCK gene in 4 hyperglycemic members of a MODY (MODY2; 125851) family and found a deletion of 15 bp, which removed the T of the GT in the donor splice site of intron 4 and the following 14 basepairs. This deletion resulted in 2 aberrant transcripts: one with exon 5 missing and the other with activation of a cryptic splice site leading to the removal of the last 8 codons of exon 4. This intronic deletion seemed to cause a more severe form of glucose intolerance than did the missense and nonsense mutations previously reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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