NM_000162.5(GCK):c.483+1G>A AND Maturity onset diabetes mellitus in young

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 20, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002338076.2

Allele description [Variation Report for NM_000162.5(GCK):c.483+1G>A]

NM_000162.5(GCK):c.483+1G>A

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.483+1G>A

HGVS:

NC_000007.14:g.44150955C>T
NG_008847.2:g.52216G>A
NM_000162.5:c.483+1G>AMANE SELECT
NM_001354800.1:c.483+1G>A
NM_033507.3:c.486+1G>A
NM_033508.3:c.480+1G>A
LRG_1074t1:c.483+1G>A
LRG_1074t2:c.486+1G>A
LRG_1074:g.52216G>A
NC_000007.13:g.44190554C>T
NM_000162.3:c.483+1G>A

Molecular consequence:

NM_000162.5:c.483+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354800.1:c.483+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_033507.3:c.486+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_033508.3:c.480+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Maturity onset diabetes mellitus in young (MODY)
Synonyms:: Mason type diabetes
Identifiers:: MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002639197	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 20, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19790256, 24430320 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002639197

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 20, 2016)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PubMed [citation]

PMID:: 19790256

Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.

Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT.

JAMA. 2014 Jan 15;311(3):279-86. doi: 10.1001/jama.2013.283980.

PubMed [citation]

PMID:: 24430320

Details of each submission

From Ambry Genetics, SCV002639197.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.483+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 4 of the GCK gene. This variant was detected in one individual with maturity-onset diabetes of the young (MODY) as well as four individuals from one family from a population that was described as hyperglycemic (Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26; Steele AM et al. JAMA, 2014 Jan;311:279-86). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024

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