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NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) AND Maturity-onset diabetes of the young type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2017
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:
RCV000754805.2

Allele description [Variation Report for NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)]

NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)
Other names:
NM_000162.5(GCK):c.1113C>A; p.Cys371Ter
HGVS:
  • NC_000007.14:g.44145637G>T
  • NG_008847.2:g.57534C>A
  • NM_000162.5:c.1113C>AMANE SELECT
  • NM_001354800.1:c.1113C>A
  • NM_001354801.1:c.102C>A
  • NM_001354802.1:c.-28C>A
  • NM_001354803.2:c.147C>A
  • NM_033507.3:c.1116C>A
  • NM_033508.3:c.1110C>A
  • NP_000153.1:p.Cys371Ter
  • NP_001341729.1:p.Cys371Ter
  • NP_001341730.1:p.Cys34Ter
  • NP_001341732.1:p.Cys49Ter
  • NP_277042.1:p.Cys372Ter
  • NP_277043.1:p.Cys370Ter
  • LRG_1074t1:c.1113C>A
  • LRG_1074t2:c.1116C>A
  • LRG_1074:g.57534C>A
  • LRG_1074p1:p.Cys371Ter
  • LRG_1074p2:p.Cys372Ter
  • NC_000007.13:g.44185236G>T
  • NM_000162.3:c.1113C>A
Protein change:
C34*
Links:
dbSNP: rs556581174
NCBI 1000 Genomes Browser:
rs556581174
Molecular consequence:
  • NM_001354802.1:c.-28C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000162.5:c.1113C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.1113C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354801.1:c.102C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354803.2:c.147C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.1116C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.1110C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000882454Translational Genomics Laboratory, University of Maryland School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 25, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Translational Genomics Laboratory, University of Maryland School of Medicine, SCV000882454.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.1113C>A variant in codon 371 (exon 9) of the glucokinase gene, GCK, results in the generation of a stop codon. The c.1113C>A variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases; however, loss of function nonsense mutations in the GCK gene, including ones in exon 9, have been reported previously in patients with Maturity-Onset Diabetes of the Young, Type 2 (MODY2) (19790256). Additionally, multiple lines of computational evidence (MutationTaster, LRT, CADD) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. ACMG criteria = PVS1, PM2, PP3

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

Last Updated: May 7, 2024