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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2004
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037798	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037798

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2004)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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