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NM_000162.5(GCK):c.709G>A (p.Glu237Lys) AND Maturity-onset diabetes of the young type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV001249059.3

Allele description [Variation Report for NM_000162.5(GCK):c.709G>A (p.Glu237Lys)]

NM_000162.5(GCK):c.709G>A (p.Glu237Lys)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.709G>A (p.Glu237Lys)
HGVS:
  • NC_000007.14:g.44147804C>T
  • NG_008847.2:g.55367G>A
  • NM_000162.5:c.709G>AMANE SELECT
  • NM_001354800.1:c.709G>A
  • NM_033507.3:c.712G>A
  • NM_033508.3:c.706G>A
  • NP_000153.1:p.Glu237Lys
  • NP_001341729.1:p.Glu237Lys
  • NP_277042.1:p.Glu238Lys
  • NP_277043.1:p.Glu236Lys
  • LRG_1074t1:c.709G>A
  • LRG_1074t2:c.712G>A
  • LRG_1074:g.55367G>A
  • LRG_1074p1:p.Glu237Lys
  • LRG_1074p2:p.Glu238Lys
  • NC_000007.13:g.44187403C>T
Protein change:
E236K
Links:
dbSNP: rs1176858193
NCBI 1000 Genomes Browser:
rs1176858193
Molecular consequence:
  • NM_000162.5:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 2
Synonyms:
MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423006Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 22, 2020) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA.

Clin Invest Med. 2004 Jun;27(3):135-41.

PubMed [citation]
PMID:
15305805

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001423006.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The p.Glu237Lys variant in GCK has been reported in 3 individuals with maturity-onset diabetes of the young, segregated with disease in 3 relatives from 1 family (PMID: 15305805), and has been identified in 0.003% (1/30614) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1176858193). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP1, PP3 (Richards 2015).

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

Last Updated: Mar 30, 2024