NM_000162.5(GCK):c.622G>A (p.Ala208Thr) AND Maturity-onset diabetes of the young type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 3, 2019
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:: RCV000991306.1

Allele description [Variation Report for NM_000162.5(GCK):c.622G>A (p.Ala208Thr)]

NM_000162.5(GCK):c.622G>A (p.Ala208Thr)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.622G>A (p.Ala208Thr)

Other names:

NM_000162.5(GCK):c.622G>A

HGVS:

NC_000007.14:g.44149817C>T
NG_008847.2:g.53354G>A
NM_000162.5:c.622G>AMANE SELECT
NM_001354800.1:c.622G>A
NM_033507.3:c.625G>A
NM_033508.3:c.619G>A
NP_000153.1:p.Ala208Thr
NP_001341729.1:p.Ala208Thr
NP_277042.1:p.Ala209Thr
NP_277043.1:p.Ala207Thr
LRG_1074t1:c.622G>A
LRG_1074t2:c.625G>A
LRG_1074:g.53354G>A
LRG_1074p1:p.Ala208Thr
LRG_1074p2:p.Ala209Thr
NC_000007.13:g.44189416C>T
NM_000162.3:c.622G>A
p.Ala208Thr

Protein change:

A207T

Links:

dbSNP: rs1476637197

NCBI 1000 Genomes Browser:

rs1476637197

Molecular consequence:

NM_000162.5:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.619G>A - 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
SCV001142710	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 3, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18248649, 16731834, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001142710

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 3, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group..

Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1.

PubMed [citation]

PMID:: 18248649

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV, Odili S, Bjørkhaug L, Zelent D, Buettger C, Kwagh J, Stanley C, Dahl-Jørgensen K, de Beaufort C, Bell GI, Han Y, Grimsby J, Taub R, Molven A, Søvik O, Njølstad PR, Matschinsky FM.

Diabetes. 2006 Jun;55(6):1713-22.

PubMed [citation]

PMID:: 16731834

See all PubMed Citations (3)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV001142710.1

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

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

Last Updated: Jun 17, 2024

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