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NM_000162.5(GCK):c.679+1G>A AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 9, 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:
RCV002368586.2

Allele description [Variation Report for NM_000162.5(GCK):c.679+1G>A]

NM_000162.5(GCK):c.679+1G>A

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.679+1G>A
HGVS:
  • NC_000007.14:g.44149759C>T
  • NG_008847.2:g.53412G>A
  • NM_000162.5:c.679+1G>AMANE SELECT
  • NM_001354800.1:c.679+1G>A
  • NM_033507.3:c.682+1G>A
  • NM_033508.3:c.676+1G>A
  • LRG_1074t1:c.679+1G>A
  • LRG_1074t2:c.682+1G>A
  • LRG_1074:g.53412G>A
  • NC_000007.13:g.44189358C>T
  • NM_000162.3:c.679+1G>A
Links:
dbSNP: rs2128821468
NCBI 1000 Genomes Browser:
rs2128821468
Molecular consequence:
  • NM_000162.5:c.679+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354800.1:c.679+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033507.3:c.682+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033508.3:c.676+1G>A - 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
SCV002661818Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 9, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I, Rica I, Perez de Nanclares G, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castaño L; Spanish MODY Group..

Clin Endocrinol (Oxf). 2007 Oct;67(4):538-46. Epub 2007 Jun 15.

PubMed [citation]
PMID:
17573900

Details of each submission

From Ambry Genetics, SCV002661818.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.679+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 6 of the GCK gene. This mutation has been described in 7 individuals in two MODY families (Estalella I et al. Clin. Endocrinol. (Oxf), 2007 Oct;67:538-46). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

Last Updated: Sep 29, 2024