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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037788OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1992) 		germlineliterature only

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

Help

Summary from all submissions

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: May 7, 2024