NM_000162.5(GCK):c.737G>A (p.Gly246Glu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 13, 2023
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:: RCV001289444.3

Allele description [Variation Report for NM_000162.5(GCK):c.737G>A (p.Gly246Glu)]

NM_000162.5(GCK):c.737G>A (p.Gly246Glu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.737G>A (p.Gly246Glu)

Other names:

NM_000162.5(GCK):c.737G>A; p.Gly246Glu

HGVS:

NC_000007.14:g.44147776C>T
NG_008847.2:g.55395G>A
NM_000162.5:c.737G>AMANE SELECT
NM_001354800.1:c.737G>A
NM_033507.3:c.740G>A
NM_033508.3:c.734G>A
NP_000153.1:p.Gly246Glu
NP_001341729.1:p.Gly246Glu
NP_277042.1:p.Gly247Glu
NP_277043.1:p.Gly245Glu
LRG_1074t1:c.737G>A
LRG_1074t2:c.740G>A
LRG_1074:g.55395G>A
LRG_1074p1:p.Gly246Glu
LRG_1074p2:p.Gly247Glu
NC_000007.13:g.44187375C>T
NM_000162.3:c.737G>A

Protein change:

G245E

Links:

dbSNP: rs1583596522

NCBI 1000 Genomes Browser:

rs1583596522

Molecular consequence:

NM_000162.5:c.737G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.737G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.740G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001477262	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Jul 13, 2023)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18248649, 30663027, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001477262

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Jul 13, 2023)

unknown

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	unknown	unknown	not provided	not provided	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

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N, Burumkulova F, Plechanova M, Petrukhin V, Petrov V, Vasilyev E, Panov A, Sorkina E, Ulyatovskaya V, Makretskaya N, Tiulpakov A.

Acta Diabetol. 2019 Apr;56(4):413-420. doi: 10.1007/s00592-018-01282-6. Epub 2019 Jan 20.

PubMed [citation]

PMID:: 30663027

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001477262.2

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

Description

This variant has been identified in at least one individual with clinical features of MODY. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Computational tools predict that this variant is damaging.

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

Last Updated: May 7, 2024

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