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NM_000162.5(GCK):c.660C>A (p.Cys220Ter) AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 7, 2021
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:
RCV002368554.4

Allele description [Variation Report for NM_000162.5(GCK):c.660C>A (p.Cys220Ter)]

NM_000162.5(GCK):c.660C>A (p.Cys220Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
Other names:
NM_000162.5(GCK):c.660C>A; p.Cys220Ter
HGVS:
  • NC_000007.14:g.44149779G>T
  • NG_008847.2:g.53392C>A
  • NM_000162.5:c.660C>AMANE SELECT
  • NM_001354800.1:c.660C>A
  • NM_033507.3:c.663C>A
  • NM_033508.3:c.657C>A
  • NP_000153.1:p.Cys220Ter
  • NP_001341729.1:p.Cys220Ter
  • NP_277042.1:p.Cys221Ter
  • NP_277043.1:p.Cys219Ter
  • LRG_1074t1:c.660C>A
  • LRG_1074t2:c.663C>A
  • LRG_1074:g.53392C>A
  • LRG_1074p1:p.Cys220Ter
  • LRG_1074p2:p.Cys221Ter
  • NC_000007.13:g.44189378G>T
  • NC_000007.13:g.44189378G>T
  • NM_000162.3:c.660C>A
Protein change:
C219*
Links:
dbSNP: rs142952813
NCBI 1000 Genomes Browser:
rs142952813
Molecular consequence:
  • NM_000162.5:c.660C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.660C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.663C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.657C>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002663450Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 7, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.

Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T.

Diabetologia. 2003 Feb;46(2):291-5. Epub 2003 Jan 8.

PubMed [citation]
PMID:
12627330

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M, Ludwig-Gałęzowska A, Radkowski P, Skupień J, Zapała B, Płatek T, Klupa T, Kieć-Wilk B, Borowiec M, Młynarski W, Wołkow P, Małecki MT.

Pol Arch Med Wewn. 2015;125(11):845-51. Epub 2015 Nov 9.

PubMed [citation]
PMID:
26552609
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002663450.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.C220* pathogenic mutation (also known as c.660C>A), located in coding exon 6 of the GCK gene, results from a C to A substitution at nucleotide position 660. This changes the amino acid from a cysteine to a stop codon within coding exon 6. This alteration has been reported in multiple individuals with a personal and family history consistent with MODY (Pruhova S et al. Diabetologia, 2003 Feb;46:291-5; Szopa M et al. Pol Arch Med Wewn, 2015 Nov;125:845-51; Glotov OS et al. Mol Med Rep, 2019 Dec;20:4905-4914). In addition to the clinical data presented in the literature, 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