NM_000162.5(GCK):c.666del (p.Gly223fs) 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:: RCV002463806.1

Allele description [Variation Report for NM_000162.5(GCK):c.666del (p.Gly223fs)]

NM_000162.5(GCK):c.666del (p.Gly223fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.666del (p.Gly223fs)

HGVS:

NC_000007.14:g.44149773del
NG_008847.2:g.53398del
NM_000162.5:c.666delMANE SELECT
NM_001354800.1:c.666del
NM_033507.3:c.669del
NM_033508.3:c.663del
NP_000153.1:p.Gly223fs
NP_001341729.1:p.Gly223fs
NP_277042.1:p.Gly224fs
NP_277043.1:p.Gly222fs
LRG_1074t1:c.666del
LRG_1074t2:c.669del
LRG_1074:g.53398del
LRG_1074p1:p.Gly223fs
LRG_1074p2:p.Gly224fs
NC_000007.13:g.44189372del
NM_000162.3:c.666del

Protein change:

G222fs

Links:

dbSNP: rs2096278285

NCBI 1000 Genomes Browser:

rs2096278285

Molecular consequence:

NM_000162.5:c.666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.669del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.663del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Homo sapiens uncharacterized LOC105375781 (LOC105375781), long non-coding RNA
Homo sapiens uncharacterized LOC105375781 (LOC105375781), long non-coding RNA
gi|2576505510|ref|NR_188082.1|

Nucleotide
Sus scrofa mRNA, clone: THY010010A07, expressed in thymus
Sus scrofa mRNA, clone: THY010010A07, expressed in thymus
gi|371923713|dbj|AK398333.1|

Nucleotide
Brachythecium amurense isolate OK1742 internal transcribed spacer 1, partial seq...
Brachythecium amurense isolate OK1742 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1786006981|gb|MN850395.1|

Nucleotide
Chain A, Multidrug efflux pump subunit AcrB
Chain A, Multidrug efflux pump subunit AcrB
gi|2043688393|pdb|6ZO6|A

Protein
Homologene neighbors for GEO Profiles (Select 108369021) (0)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605142	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

SCV002605142

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, SCV002605142.1

#	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 rs2096278285 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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