NM_000162.5(GCK):c.951C>G (p.His317Gln) AND Maturity-onset diabetes of the young type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 2, 2022
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:: RCV002285351.3

Allele description [Variation Report for NM_000162.5(GCK):c.951C>G (p.His317Gln)]

NM_000162.5(GCK):c.951C>G (p.His317Gln)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.951C>G (p.His317Gln)

HGVS:

NC_000007.14:g.44146531G>C
NG_008847.2:g.56640C>G
NM_000162.5:c.951C>GMANE SELECT
NM_001354800.1:c.951C>G
NM_001354801.1:c.8+88C>G
NM_033507.3:c.954C>G
NM_033508.3:c.948C>G
NP_000153.1:p.His317Gln
NP_001341729.1:p.His317Gln
NP_277042.1:p.His318Gln
NP_277043.1:p.His316Gln
LRG_1074t1:c.951C>G
LRG_1074t2:c.954C>G
LRG_1074:g.56640C>G
LRG_1074p1:p.His317Gln
LRG_1074p2:p.His318Gln
NC_000007.13:g.44186130G>C
NM_000162.3:c.951C>G
p.HIS317GLN

Protein change:

H316Q

Links:

dbSNP: rs1379908545

NCBI 1000 Genomes Browser:

rs1379908545

Molecular consequence:

NM_001354801.1:c.8+88C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000162.5:c.951C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.951C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.954C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.948C>G - missense variant - [Sequence Ontology: SO:0001583]

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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Homo sapiens chromosome 22, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 22, GRCh38.p14 Primary Assembly
gi|568815576|gnl|ASM:GCF_000001305| f|NC_000022.11||gpp|GPC_000001314.1||gnl|NCBI_GENOMES|22

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002562201	Geisinger Clinic, Geisinger Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 2, 2022)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36257325

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002562201

Geisinger Clinic, Geisinger Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 2, 2022)

germline

research

PubMed (2)
[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	13	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration., Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA.

Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17.

PubMed [citation]

PMID:: 36257325
PMCID:: PMC9674944

Details of each submission

From Geisinger Clinic, Geisinger Health System, SCV002562201.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	research	PubMed (2)

Description

PM2, PP3, PP1_Moderate, PS4_Strong, PM5_Supporting, PP4, PP2

#	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		13	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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