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NM_000162.5(GCK):c.682A>G (p.Thr228Ala)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 9, 2020)
Last evaluated:
Nov 3, 2017
Accession:
VCV000447413.2
Variation ID:
447413
Description:
single nucleotide variant
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NM_000162.5(GCK):c.682A>G (p.Thr228Ala)

Allele ID
441107
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p13
Genomic location
7: 44147831 (GRCh38) GRCh38 UCSC
7: 44187430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.44187430T>C
NC_000007.14:g.44147831T>C
NG_008847.2:g.55340A>G
... more HGVS
Protein change
T228A, T229A, T227A
Other names
-
Canonical SPDI
NC_000007.14:44147830:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA367400790
dbSNP: rs1332966015
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 3, 2017 RCV000516688.1
Likely pathogenic 1 no assertion criteria provided Jan 22, 2020 RCV001248971.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCK - - GRCh38
GRCh37
541 564

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613450.2
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (8)
Likely pathogenic
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Monogenic diabetes
(Autosomal dominant inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422803.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (5)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Thr228Ala variant in GCK has been reported in 3 Italian individuals with Monogenic Diabetes, segregated with disease in these 3 affected relatives from 1 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. Bonfig W ISRN pediatrics 2011 PMID: 22389783
Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population. Al-Sheyab F TSitologiia i genetika 2009 PMID: 20458967
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Osbak KK Human mutation 2009 PMID: 19790256
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients. Khalil R Genetics and molecular research : GMR 2009 PMID: 19551638
Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects. Aigner B American journal of physiology. Endocrinology and metabolism 2008 PMID: 18056790
Identification and characterization of the ATP-binding site in human pancreatic glucokinase. Marotta DE Archives of biochemistry and biophysics 2005 PMID: 15752705
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. Inoue M Human molecular genetics 2004 PMID: 15102714
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Mantovani V Human mutation 2003 PMID: 12955723
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9d52f272-5f53-4e88-80ed-41e6c35f2255 - - - -

Text-mined citations for rs1332966015...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021