NM_000162.5(GCK):c.1160C>T (p.Ala387Val) 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:: RCV000029845.2

Allele description [Variation Report for NM_000162.5(GCK):c.1160C>T (p.Ala387Val)]

NM_000162.5(GCK):c.1160C>T (p.Ala387Val)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1160C>T (p.Ala387Val)

Other names:

NM_000162.5(GCK):c.1160C>T

HGVS:

NC_000007.14:g.44145590G>A
NG_008847.2:g.57581C>T
NM_000162.3(GCK):c.1160C>T
NM_000162.5:c.1160C>TMANE SELECT
NM_001354800.1:c.1160C>T
NM_001354801.1:c.149C>T
NM_001354802.1:c.20C>T
NM_001354803.2:c.194C>T
NM_033507.3:c.1163C>T
NM_033508.3:c.1157C>T
NP_000153.1:p.Ala387Val
NP_001341729.1:p.Ala387Val
NP_001341730.1:p.Ala50Val
NP_001341731.1:p.Ala7Val
NP_001341732.1:p.Ala65Val
NP_277042.1:p.Ala388Val
NP_277043.1:p.Ala386Val
LRG_1074t1:c.1160C>T
LRG_1074t2:c.1163C>T
LRG_1074:g.57581C>T
LRG_1074p1:p.Ala387Val
LRG_1074p2:p.Ala388Val
NC_000007.13:g.44185189G>A
NC_000007.13:g.44185189G>A
NM_000162.3(GCK):c.1160C>T
NM_000162.3:c.1160C>T

Protein change:

A386V

Links:

dbSNP: rs193921338

NCBI 1000 Genomes Browser:

rs193921338

Molecular consequence:

NM_000162.5:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354801.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354802.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354803.2:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.1157C>T - 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
SCV000052500	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 (3) [See all records that cite these PMIDs] 14517946, 14517956, 20337973 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052500

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 (3)
[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	2	not provided	not provided	2	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

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Hum Mutat. 2003 Nov;22(5):417.

PubMed [citation]

PMID:: 14517956

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052500.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (3)
2	not provided	1	not provided	not provided	curation	PubMed (3)
3	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

"Not found in controls (see pbGP)": PubMed [ID: 14517956]
"Author states the variant found in 1 family, details of family and number of family membters carrying this mutation not specified , so kept as 1, Controls not tested.": PubMed [ID: 20337973]

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	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3

Co-occurrences

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

Last Updated: Dec 7, 2024

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