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NM_000162.5(GCK):c.483+2_483+16del 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:
RCV003106086.3

Allele description [Variation Report for NM_000162.5(GCK):c.483+2_483+16del]

NM_000162.5(GCK):c.483+2_483+16del

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.483+2_483+16del
HGVS:
  • NC_000007.14:g.44150940_44150954del
  • NC_000007.14:g.44150943_44150957del
  • NG_008847.2:g.52217_52231del
  • NM_000162.5:c.483+2_483+16delMANE SELECT
  • NM_001354800.1:c.483+2_483+16del
  • NM_033507.3:c.486+2_486+16del
  • NM_033508.3:c.480+2_480+16del
  • LRG_1074t1:c.483+2_483+16del
  • LRG_1074t2:c.486+2_486+16del
  • LRG_1074:g.52217_52231del
  • NC_000007.13:g.44190542_44190556del
  • NC_000007.14:g.44150943_44150957del
  • NM_000162.3:c.483+2_483+16del
Links:
OMIM: 138079.0006; dbSNP: rs1583601110
NCBI 1000 Genomes Browser:
rs1583601110
Molecular consequence:
  • NM_000162.5:c.483+2_483+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354800.1:c.483+2_483+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033507.3:c.486+2_486+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033508.3:c.480+2_480+16del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002758760Clinical 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 pathogenicunknownresearch

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

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, SCV002758760.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch 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 rs1583601110 in MODY, yet.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024