NM_000162.5(GCK):c.535A>G (p.Asn179Asp) AND Maturity onset diabetes mellitus in young

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 2017
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:: RCV002347008.2

Allele description [Variation Report for NM_000162.5(GCK):c.535A>G (p.Asn179Asp)]

NM_000162.5(GCK):c.535A>G (p.Asn179Asp)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.535A>G (p.Asn179Asp)

HGVS:

NC_000007.14:g.44150013T>C
NG_008847.2:g.53158A>G
NM_000162.5:c.535A>GMANE SELECT
NM_001354800.1:c.535A>G
NM_033507.3:c.538A>G
NM_033508.3:c.532A>G
NP_000153.1:p.Asn179Asp
NP_001341729.1:p.Asn179Asp
NP_277042.1:p.Asn180Asp
NP_277043.1:p.Asn178Asp
LRG_1074t1:c.535A>G
LRG_1074t2:c.538A>G
LRG_1074:g.53158A>G
LRG_1074p1:p.Asn179Asp
LRG_1074p2:p.Asn180Asp
NC_000007.13:g.44189612T>C
NM_000162.3:c.535A>G

Protein change:

N178D

Molecular consequence:

NM_000162.5:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.538A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.532A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Maturity onset diabetes mellitus in young (MODY)
Synonyms:: Mason type diabetes
Identifiers:: MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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treZ [Arachnia propionica]
treZ [Arachnia propionica]
Gene ID:64405615

Gene
WALSEDRAFT_66236 [Wallemia mellicola CBS 633.66]
WALSEDRAFT_66236 [Wallemia mellicola CBS 633.66]
Gene ID:18475099

Gene
Databases as Topic
Databases as Topic
Works on organized collections of records, standardized in format and content, that are stored in any of a variety of computer-readable modes.<br/>Year introduced: 2008(1998)

MeSH
HEK293 Cells
HEK293 Cells
A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.<br/>Year introduced: 2011

MeSH
Ion Transport
Ion Transport
The movement of ions across energy-transducing cell membranes. Transport can be active, passive or facilitated. Ions may travel by themselves (uniport), or as a group of two o...<br/>Year introduced: 1993

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002641538	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002641538

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002641538.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.N179D variant (also known as c.535A>G), located in coding exon 5 of the GCK gene, results from an A to G substitution at nucleotide position 535. The asparagine at codon 179 is replaced by aspartic acid, an amino acid with highly similar properties. This nucleotide position is highly conserved in available vertebrate species. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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