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NM_000162.5(GCK):c.982G>T (p.Gly328Ter) AND Monogenic diabetes

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2023
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:
RCV003235717.1

Allele description [Variation Report for NM_000162.5(GCK):c.982G>T (p.Gly328Ter)]

NM_000162.5(GCK):c.982G>T (p.Gly328Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
HGVS:
  • NC_000007.14:g.44146500C>A
  • NG_008847.2:g.56671G>T
  • NM_000162.5:c.982G>TMANE SELECT
  • NM_001354800.1:c.982G>T
  • NM_001354801.1:c.8+119G>T
  • NM_033507.3:c.985G>T
  • NM_033508.3:c.979G>T
  • NP_000153.1:p.Gly328Ter
  • NP_001341729.1:p.Gly328Ter
  • NP_277042.1:p.Gly329Ter
  • NP_277043.1:p.Gly327Ter
  • LRG_1074t1:c.982G>T
  • LRG_1074t2:c.985G>T
  • LRG_1074:g.56671G>T
  • LRG_1074p1:p.Gly328Ter
  • LRG_1074p2:p.Gly329Ter
  • NC_000007.13:g.44186099C>A
  • NM_000162.3:c.982G>T
Protein change:
G327*
Molecular consequence:
  • NM_001354801.1:c.8+119G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000162.5:c.982G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.982G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.985G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.979G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003934327Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(May 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003934327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: GCK c.982G>T (p.Gly328X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 245932 control chromosomes. To our knowledge, no occurrence of c.982G>T in individuals affected with Monogenic Diabetes and no experimental evidence demonstrating its impact on protein function have been reported. However, loss of function variants in the GCK gene are a well established mechanism of disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: May 1, 2024