NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) AND Hyperinsulinism due to glucokinase deficiency

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000017526.27

Allele description [Variation Report for NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)]

NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)
HGVS:
  • NC_000007.14:g.44149798T>C
  • NG_008847.2:g.53373A>G
  • NM_000162.5:c.641A>GMANE SELECT
  • NM_001354800.1:c.641A>G
  • NM_033507.3:c.644A>G
  • NM_033508.3:c.638A>G
  • NP_000153.1:p.Tyr214Cys
  • NP_001341729.1:p.Tyr214Cys
  • NP_277042.1:p.Tyr215Cys
  • NP_277043.1:p.Tyr213Cys
  • LRG_1074t1:c.641A>G
  • LRG_1074t2:c.644A>G
  • LRG_1074:g.53373A>G
  • LRG_1074p1:p.Tyr214Cys
  • LRG_1074p2:p.Tyr215Cys
  • NC_000007.13:g.44189397T>C
Protein change:
Y213C; TYR214CYS
Links:
OMIM: 138079.0013; dbSNP: rs104894015
NCBI 1000 Genomes Browser:
rs104894015
Molecular consequence:
  • NM_000162.5:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.644A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.638A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperinsulinism due to glucokinase deficiency (HHF3)
Synonyms:
Hyperinsulinemic hypoglycemia familial 3
Identifiers:
MONDO: MONDO:0011236; MedGen: C1865290; OMIM: 602485

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037798OMIMno assertion criteria providedPathogenic
(Aug 1, 2004)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

Diabetes. 2004 Aug;53(8):2164-8.

PubMed [citation]
PMID:
15277402

Details of each submission

From OMIM, SCV000037798.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Finnish woman with severe hyperinsulinemic hypoglycemia from birth (602485), who had severe mental retardation and was still having hypoglycemic seizures when she died at age 29, Cuesta-Munoz et al. (2004) identified heterozygosity for a de novo tyr214-to-cys (Y214C) substitution in exon 6 of the GCK gene. Although paternity was confirmed, the mutation was not found in her parents or her 2 healthy sisters. Kinetic analysis revealed that this mutation had the highest activity index (130-fold over wildtype) of all naturally occurring activating GCK mutations described. Cuesta-Munoz et al. (2004) noted that this phenotype was considerably more severe than that of previously reported patients (see 138079.0009 and 138079.0012).

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

Last Updated: Oct 7, 2021

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