NM_000162.5(GCK):c.895G>C (p.Gly299Arg) AND Maturity-onset diabetes of the young type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 1992
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:: RCV000017516.28

Allele description [Variation Report for NM_000162.5(GCK):c.895G>C (p.Gly299Arg)]

NM_000162.5(GCK):c.895G>C (p.Gly299Arg)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.895G>C (p.Gly299Arg)

HGVS:

NC_000007.14:g.44146587C>G
NG_008847.2:g.56584G>C
NM_000162.5:c.895G>CMANE SELECT
NM_001354800.1:c.895G>C
NM_001354801.1:c.8+32G>C
NM_033507.3:c.898G>C
NM_033508.3:c.892G>C
NP_000153.1:p.Gly299Arg
NP_001341729.1:p.Gly299Arg
NP_277042.1:p.Gly300Arg
NP_277043.1:p.Gly298Arg
LRG_1074t1:c.895G>C
LRG_1074t2:c.898G>C
LRG_1074:g.56584G>C
LRG_1074p1:p.Gly299Arg
LRG_1074p2:p.Gly300Arg
NC_000007.13:g.44186186C>G
NM_000162.3:c.895G>C
P35557:p.Gly299Arg

Protein change:

G298R; GLY299ARG

Links:

UniProtKB: P35557#VAR_003710; OMIM: 138079.0005; dbSNP: rs104894009

NCBI 1000 Genomes Browser:

rs104894009

Molecular consequence:

NM_001354801.1:c.8+32G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000162.5:c.895G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.895G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.898G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.892G>C - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037788	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1992)	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

SCV000037788

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1992)

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

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC, Wainscoat JS.

Nat Genet. 1992 Oct;2(2):153-6.

PubMed [citation]

PMID:: 1303265

Details of each submission

From OMIM, SCV000037788.2

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

Description

In a large British pedigree with many cases of MODY (MODY2; 125851) in 5 generations, Stoffel et al. (1992) demonstrated a G-to-C transversion in the GCK gene, which converted codon 266 from glycine to arginine. The mutation also created a HhaI site which allowed them to construct a rapid PCR test for the mutation. Applying this to cases of classic late-onset type 2 diabetes mellitus, they found the same mutation in 1 of 50 patients. All 9 relatives of this patient who had inherited the mutation had type 2 diabetes, although 6 others without the mutation also had diabetes. MODY had not previously been considered in this family.

#	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: May 7, 2024

ClinVar

Relating variation to medicine