NM_000162.3(GCK):c.131G>A (p.Gly44Asp) 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:
RCV000029859.1

Allele description [Variation Report for NM_000162.3(GCK):c.131G>A (p.Gly44Asp)]

NM_000162.3(GCK):c.131G>A (p.Gly44Asp)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.3(GCK):c.131G>A (p.Gly44Asp)
HGVS:
  • NC_000007.14:g.44153378C>T
  • NG_008847.2:g.49793G>A
  • NM_000162.3:c.131G>A
  • NM_033507.1:c.134G>A
  • NP_000153.1:p.Gly44Asp
  • NP_277042.1:p.Gly45Asp
  • NC_000007.13:g.44192977C>T
Protein change:
G44D
Links:
dbSNP: rs193922279
NCBI 1000 Genomes Browser:
rs193922279
Molecular consequence:
  • NM_000162.3:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Maturity-onset diabetes of the young, type 2 (MODY2)
Identifiers:
MedGen: C1841962; Orphanet: 552; OMIM: 125851

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052514Integrated Genetics/Laboratory Corporation of Americacriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot provided4not providedcuration
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.

Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T.

Diabetologia. 2003 Feb;46(2):291-5. Epub 2003 Jan 8.

PubMed [citation]
PMID:
12627330
See all PubMed Citations (4)

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000052514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcuration PubMed (4)
2not provided2not providednot providedcuration PubMed (4)
3not providednot providednot providednot providedclinical testing PubMed (4)
4not providednot providednot providednot providedclinical testing PubMed (4)

Description

"Variant detected in one Czech proband, Author clearly states the variant cosegregates with diabetes within the family , so at least one more affected member should carry the variant , Not seen in Controls see PbGP."
"Variant detected in one Czech proband, Author clearly states the variant cosegregates with diabetes within the family , so at least one more affected member should carry the variant , Not seen in Controls see PbGP."

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes2not providednot provided2not providednot providednot provided
2germlineyes2not providednot provided2not providednot providednot provided
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 4

Co-occurrences

#ZygosityAllelesNumber of Observations
3SingleHeterozygoteGCK:c.1253+8C>T, HNF4A:c.201C>T, HNF4A:c.116-5C>T, TCF1:c.1720A>G1
4SingleHeterozygoteGCK:c.1253+8C>T, TCF1:c.51C>G, TCF1:c.1720A>G1

Last Updated: Mar 30, 2019

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