NM_000162.5(GCK):c.542T>C (p.Val181Ala) AND Maturity-onset diabetes of the young type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000029891.2

Allele description [Variation Report for NM_000162.5(GCK):c.542T>C (p.Val181Ala)]

NM_000162.5(GCK):c.542T>C (p.Val181Ala)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.542T>C (p.Val181Ala)

HGVS:

NC_000007.14:g.44150006A>G
NG_008847.2:g.53165T>C
NM_000162.5:c.542T>CMANE SELECT
NM_001354800.1:c.542T>C
NM_033507.3:c.545T>C
NM_033508.3:c.539T>C
NP_000153.1:p.Val181Ala
NP_001341729.1:p.Val181Ala
NP_277042.1:p.Val182Ala
NP_277043.1:p.Val180Ala
LRG_1074t1:c.542T>C
LRG_1074t2:c.545T>C
LRG_1074:g.53165T>C
LRG_1074p1:p.Val181Ala
LRG_1074p2:p.Val182Ala
NC_000007.13:g.44189605A>G
NC_000007.13:g.44189605A>G
NM_000162.3:c.542T>C

Protein change:

V180A

Links:

dbSNP: rs193922306

NCBI 1000 Genomes Browser:

rs193922306

Molecular consequence:

NM_000162.5:c.542T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.542T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.539T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Maturity-onset diabetes of the young type 2
Synonyms:: MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052546	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (2) [See all records that cite these PMIDs] 14517946, 11508276 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052546

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL.

Hum Mutat. 2003 Nov;22(5):353-62. Review.

PubMed [citation]

PMID:: 14517946

High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Diabetes Study Group of the Italian Society of Paediatic Endocrinology and Diabetes (SIEDP)..

Diabetologia. 2001 Jul;44(7):898-905.

PubMed [citation]

PMID:: 11508276

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052546.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (2)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

"Variant detected in one Italian child with clinical features of MODY, Controls not tested.": PubMed [ID: 11508276]

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	GCK:c.1253+8C>T, TCF1:c.79A>C, TCF1:c.51C>G, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T, TCF1:c.1720A>G, TCF1:c.1107+9C>G	1

Last Updated: Feb 20, 2024

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