NM_000162.5(GCK):c.491T>C (p.Leu164Pro) AND Maturity onset diabetes mellitus in young

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003127763.2

Allele description [Variation Report for NM_000162.5(GCK):c.491T>C (p.Leu164Pro)]

NM_000162.5(GCK):c.491T>C (p.Leu164Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.491T>C (p.Leu164Pro)

HGVS:

NC_000007.14:g.44150057A>G
NG_008847.2:g.53114T>C
NM_000162.5:c.491T>CMANE SELECT
NM_001354800.1:c.491T>C
NM_033507.3:c.494T>C
NM_033508.3:c.488T>C
NP_000153.1:p.Leu164Pro
NP_001341729.1:p.Leu164Pro
NP_277042.1:p.Leu165Pro
NP_277043.1:p.Leu163Pro
LRG_1074t1:c.491T>C
LRG_1074t2:c.494T>C
LRG_1074:g.53114T>C
LRG_1074p1:p.Leu164Pro
LRG_1074p2:p.Leu165Pro
NC_000007.13:g.44189656A>G
NM_000162.3:c.491T>C

Protein change:

L163P

Links:

dbSNP: rs2096278847

NCBI 1000 Genomes Browser:

rs2096278847

Molecular consequence:

NM_000162.5:c.491T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.491T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.494T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.488T>C - 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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Gene Fusion
Gene Fusion
The GENETIC RECOMBINATION of the parts of two or more GENES resulting in a gene with different or additional regulatory regions, or a new chimeric gene product. ONCOGENE FUSIO...<br/>Year introduced: 2006

MeSH
Bladder Exstrophy
Bladder Exstrophy
A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top f...<br/>Year introduced: 1965(1963)

MeSH
Epispadias
Epispadias
A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or ...<br/>

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605225	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely pathogenic	unknown	research	PubMed (6) [See all records that cite these PMIDs] 33129248, 27269892, 32375122, 31197960, 30257192, 29510678 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605225

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Likely pathogenic

unknown

research

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

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	research

Citations

PubMed

Clinical implications of the glucokinase impaired function - GCK MODY today.

Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J.

Physiol Res. 2020 Dec 22;69(6):995-1011. Epub 2020 Nov 2. Review.

PubMed [citation]

PMID:: 33129248
PMCID:: PMC8549873

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y, Hua Xu X, Lan Fang Y, Jiang L, Chen C, Liang L, Lin Wang C.

J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):959-64. doi: 10.1515/jpem-2015-0354. Review.

PubMed [citation]

PMID:: 27269892

See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605225.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (6)

Description

Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs2096278847 in MODY, yet.

#	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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