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NM_000162.5(GCK):c.952G>T (p.Gly318Trp) AND Maturity onset diabetes mellitus in young

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 6, 2016
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:
RCV002371789.2

Allele description [Variation Report for NM_000162.5(GCK):c.952G>T (p.Gly318Trp)]

NM_000162.5(GCK):c.952G>T (p.Gly318Trp)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
HGVS:
  • NC_000007.14:g.44146530C>A
  • NG_008847.2:g.56641G>T
  • NM_000162.5:c.952G>TMANE SELECT
  • NM_001354800.1:c.952G>T
  • NM_001354801.1:c.8+89G>T
  • NM_033507.3:c.955G>T
  • NM_033508.3:c.949G>T
  • NP_000153.1:p.Gly318Trp
  • NP_001341729.1:p.Gly318Trp
  • NP_277042.1:p.Gly319Trp
  • NP_277043.1:p.Gly317Trp
  • LRG_1074t1:c.952G>T
  • LRG_1074t2:c.955G>T
  • LRG_1074:g.56641G>T
  • LRG_1074p1:p.Gly318Trp
  • LRG_1074p2:p.Gly319Trp
  • NC_000007.13:g.44186129C>A
  • NM_000162.3:c.952G>T
Protein change:
G317W
Links:
dbSNP: rs193922340
NCBI 1000 Genomes Browser:
rs193922340
Molecular consequence:
  • NM_001354801.1:c.8+89G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000162.5:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.955G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.949G>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686784Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 6, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002686784.2

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

Description

The p.G318W variant (also known as c.952G>T), located in coding exon 8 of the GCK gene, results from a G to T substitution at nucleotide position 952. The glycine at codon 318 is replaced by tryptophan, an amino acid with highly dissimilar properties. This variant results in perturbation of the structure as much as known pathogenic variants (Zhang, R., Zhou, M., Peterson, S., Anderson, W., Joachimiak, A. The crystal structure of the adenylosuccinate synthetase from Yersinia pestis CO92. PDB ID: 3HID. http://www.rcsb.org/pdb/explore/explore.do?structureId=3HID). This variant was previously reported in the SNPDatabase as rs193922340. Based on data from the NHLBI Exome Sequencing Project (ESP), no alterations were observed among 13006 alleles tested (0.0%). Allele frequency data for this nucleotide position is not currently available from the 1000 Genomes Project. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 7, 2024