NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) AND Maturity-onset diabetes of the young, type 2

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029851.1

Allele description [Variation Report for NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)]

NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
HGVS:
  • NC_000007.14:g.44145510T>C
  • NG_008847.2:g.57661A>G
  • NM_000162.5:c.1240A>GMANE SELECT
  • NM_001354800.1:c.1240A>G
  • NM_001354801.1:c.229A>G
  • NM_001354802.1:c.100A>G
  • NM_001354803.2:c.274A>G
  • NM_033507.3:c.1243A>G
  • NM_033508.3:c.1237A>G
  • NP_000153.1:p.Lys414Glu
  • NP_001341729.1:p.Lys414Glu
  • NP_001341730.1:p.Lys77Glu
  • NP_001341731.1:p.Lys34Glu
  • NP_001341732.1:p.Lys92Glu
  • NP_277042.1:p.Lys415Glu
  • NP_277043.1:p.Lys413Glu
  • LRG_1074t1:c.1240A>G
  • LRG_1074t2:c.1243A>G
  • LRG_1074:g.57661A>G
  • LRG_1074p1:p.Lys414Glu
  • LRG_1074p2:p.Lys415Glu
  • NC_000007.13:g.44185109T>C
  • NM_000162.3(GCK):c.1240A>G
  • NM_000162.3:c.1240A>G
  • P35557:p.Lys414Glu
Protein change:
K34E
Links:
UniProtKB: P35557#VAR_003714; dbSNP: rs193922272
NCBI 1000 Genomes Browser:
rs193922272
Molecular consequence:
  • NM_000162.5:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354802.1:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Maturity-onset diabetes of the young, type 2 (MODY2)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052506Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes2not providednot provided2not providedcuration

Citations

PubMed

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

Gidh-Jain M, Takeda J, Xu LZ, Lange AJ, Vionnet N, Stoffel M, Froguel P, Velho G, Sun F, Cohen D, et al.

Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1932-6.

PubMed [citation]
PMID:
8446612
PMCID:
PMC45994

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA, Cuesta-Muñoz A, Raoul M, Buettger C, Sweet I, Moates M, Magnuson MA, Matschinsky FM.

Diabetologia. 1999 Oct;42(10):1175-86.

PubMed [citation]
PMID:
10525657
See all PubMed Citations (10)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (10)
2not provided1not providednot providedcuration PubMed (10)
3not providednot providednot providednot providedclinical testing PubMed (10)
4not providednot providednot providednot providedclinical testing PubMed (10)

Description

"Variant detected in a French family with early onset NIDDM (MODY); families were said to have autosomal dominant inheritance in at least 2 affected members; not specified how many genotyped affected in this family so assumed 1; Not found in controls (see pbGP)."

Variant was detected in 2 patients, but only one occurrence was counted due to authorship and geographical overlap with Froguel_1993 (also cited in the text of the publication); controls not tested.

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Co-occurrences

#ZygosityAllelesNumber of Observations
3SingleHeterozygoteGCK:c.1253+8C>T1

Last Updated: Nov 27, 2021

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