NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 2021
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:: RCV001642240.10

Allele description [Variation Report for NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)]

NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)

Other names:

NM_000162.5(GCK):c.1136C>A

HGVS:

NC_000007.14:g.44145614G>T
NG_008847.2:g.57557C>A
NM_000162.5:c.1136C>AMANE SELECT
NM_001354800.1:c.1136C>A
NM_001354801.1:c.125C>A
NM_001354802.1:c.-5C>A
NM_001354803.2:c.170C>A
NM_033507.3:c.1139C>A
NM_033508.3:c.1133C>A
NP_000153.1:p.Ala379Glu
NP_001341729.1:p.Ala379Glu
NP_001341730.1:p.Ala42Glu
NP_001341732.1:p.Ala57Glu
NP_277042.1:p.Ala380Glu
NP_277043.1:p.Ala378Glu
LRG_1074t1:c.1136C>A
LRG_1074t2:c.1139C>A
LRG_1074:g.57557C>A
LRG_1074p1:p.Ala379Glu
LRG_1074p2:p.Ala380Glu
NC_000007.13:g.44185213G>T
NM_000162.3:c.1136C>A
p.ALA379GLU

Protein change:

A378E

Links:

dbSNP: rs193922265

NCBI 1000 Genomes Browser:

rs193922265

Molecular consequence:

NM_001354802.1:c.-5C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000162.5:c.1136C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.1136C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354801.1:c.125C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354803.2:c.170C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.1139C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.1133C>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
SCV000613399	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Pathogenic (Mar 16, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19790256, 30592380, 32375122, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000613399

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Pathogenic
(Mar 16, 2021)

unknown

clinical testing

PubMed (4)
[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

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PubMed [citation]

PMID:: 19790256

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

Wang Z, Diao C, Liu Y, Li M, Zheng J, Zhang Q, Yu M, Zhang H, Ping F, Li M, Xiao X.

J Diabetes Investig. 2019 Jul;10(4):963-971. doi: 10.1111/jdi.13001. Epub 2019 Feb 1.

PubMed [citation]

PMID:: 30592380
PMCID:: PMC6626954

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000613399.2

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

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one heterozygous individual with clinical features of maturity-onset diabetes of the young, type 2 (MODY2) and in one compound heterozygous individual with neonatal diabetes mellitus, within the same family (PMID: 30592380). This variant appears to occur de novo in one individual with clinical features associated with this gene. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. The variant results in reduced enzyme activity compared to the wild type (PMID: 30592380). 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: Aug 25, 2024

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