NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) AND Maturity-onset diabetes of the young type 2

Germline classification:: 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:: RCV000029901.2

Allele description [Variation Report for NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)]

NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)

HGVS:

NC_000007.14:g.44149794G>C
NG_008847.2:g.53377C>G
NM_000162.5:c.645C>GMANE SELECT
NM_001354800.1:c.645C>G
NM_033507.3:c.648C>G
NM_033508.3:c.642C>G
NP_000153.1:p.Tyr215Ter
NP_001341729.1:p.Tyr215Ter
NP_277042.1:p.Tyr216Ter
NP_277043.1:p.Tyr214Ter
LRG_1074t1:c.645C>G
LRG_1074t2:c.648C>G
LRG_1074:g.53377C>G
LRG_1074p1:p.Tyr215Ter
LRG_1074p2:p.Tyr216Ter
NC_000007.13:g.44189393G>C
NM_000162.3:c.645C>G
p.Tyr215X

Protein change:

Y214*

Links:

dbSNP: rs144723656

NCBI 1000 Genomes Browser:

rs144723656

Molecular consequence:

NM_000162.5:c.645C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354800.1:c.645C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_033507.3:c.648C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_033508.3:c.642C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000052556	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (3) [See all records that cite these PMIDs] 18399931, 10753050, 16731834 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052556

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

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	6	not provided	not provided	6	not provided	curation
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV, Bjørkhaug L, Molnes J, Raeder H, Grevle L, Søvik O, Molven A, Njølstad PR.

Pediatr Diabetes. 2008 Oct;9(5):442-9. doi: 10.1111/j.1399-5448.2008.00399.x. Epub 2008 Apr 9.

PubMed [citation]

PMID:: 18399931

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

Ellard S, Beards F, Allen LI, Shepherd M, Ballantyne E, Harvey R, Hattersley AT.

Diabetologia. 2000 Feb;43(2):250-3.

PubMed [citation]

PMID:: 10753050

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052556.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	curation	PubMed (3)
2	not provided	2	not provided	not provided	curation	PubMed (3)
3	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)
4	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

"Author mentions this to be a novel variant found in Caucasian gestational subjects , Glucokinase activity likely to be severely reduced by this variant, Three relatives of the pt with fasting plasma glucose > 5.5 mmol/L. Controls not tested.": PubMed [ID: 10753050]
"Author mentions this variant found among 14 probands tested, actual number not provided so considered at least one proband with this mutation, also mentions the variant coseggregates with diabetes, so added one more occurrence for a total of 2 concordant transmissions, Not found in normals (see pbGP)": PubMed [ID: 16731834]

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	4	not provided	not provided		4	not provided	not provided	not provided
2	germline	yes	2	not provided	not provided		2	not provided	not provided	not provided
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3
4	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided

Co-occurrences

#	Zygosity	Alleles	Number of Observations
3	SingleHeterozygote	HNF4A:c.619G>C, TCF1:c.79A>C, TCF1:c.51C>G, TCF1:c.1720A>G	1

Last Updated: Jul 29, 2023

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