U.S. flag

An official website of the United States government

NM_000162.5(GCK):c.766G>T (p.Glu256Ter) AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 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:
RCV002400446.2

Allele description [Variation Report for NM_000162.5(GCK):c.766G>T (p.Glu256Ter)]

NM_000162.5(GCK):c.766G>T (p.Glu256Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
HGVS:
  • NC_000007.14:g.44147747C>A
  • NG_008847.2:g.55424G>T
  • NM_000162.5:c.766G>TMANE SELECT
  • NM_001354800.1:c.766G>T
  • NM_033507.3:c.769G>T
  • NM_033508.3:c.763G>T
  • NP_000153.1:p.Glu256Ter
  • NP_001341729.1:p.Glu256Ter
  • NP_277042.1:p.Glu257Ter
  • NP_277043.1:p.Glu255Ter
  • LRG_1074t1:c.766G>T
  • LRG_1074t2:c.769G>T
  • LRG_1074:g.55424G>T
  • LRG_1074p1:p.Glu256Ter
  • LRG_1074p2:p.Glu257Ter
  • NC_000007.13:g.44187346C>A
  • NM_000162.3:c.766G>T
Protein change:
E255*
Molecular consequence:
  • NM_000162.5:c.766G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.766G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.769G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002673126Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 13, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Details of each submission

From Ambry Genetics, SCV002673126.2

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

Description

The p.E256* pathogenic mutation (also known as c.766G>T), located in coding exon 7 of the GCK gene, results from a G to T substitution at nucleotide position 766. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This mutation was identified in one maturity-onset diabetes of the young (MODY) family; however, specific clinical information was not provided (Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024