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NM_000162.5(GCK):c.766G>T (p.Glu256Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 14, 2022
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:
RCV003099711.3

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003439896Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 14, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

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

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis.

Grupe A, Hultgren B, Ryan A, Ma YH, Bauer M, Stewart TA.

Cell. 1995 Oct 6;83(1):69-78.

PubMed [citation]
PMID:
7553875
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003439896.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Maturity onset diabetes of the young (PMID: 19790256). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu256*) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100).

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

Last Updated: Sep 29, 2024