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NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) AND Gestational diabetes

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 23, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000117127.15

Allele description [Variation Report for NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)]

NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)
Other names:
NM_000162.5(GCK):c.1112G>T; p.Cys371Phe
HGVS:
  • NC_000007.14:g.44145638C>A
  • NG_008847.2:g.57533G>T
  • NM_000162.5:c.1112G>TMANE SELECT
  • NM_001354800.1:c.1112G>T
  • NM_001354801.1:c.101G>T
  • NM_001354802.1:c.-29G>T
  • NM_001354803.2:c.146G>T
  • NM_033507.3:c.1115G>T
  • NM_033508.3:c.1109G>T
  • NP_000153.1:p.Cys371Phe
  • NP_001341729.1:p.Cys371Phe
  • NP_001341730.1:p.Cys34Phe
  • NP_001341732.1:p.Cys49Phe
  • NP_277042.1:p.Cys372Phe
  • NP_277043.1:p.Cys370Phe
  • LRG_1074t1:c.1112G>T
  • LRG_1074t2:c.1115G>T
  • LRG_1074:g.57533G>T
  • LRG_1074p1:p.Cys371Phe
  • LRG_1074p2:p.Cys372Phe
  • NC_000007.13:g.44185237C>A
  • NC_000007.13:g.44185237C>A
  • NM_000162.3:c.1112G>T
Protein change:
C34F
Links:
dbSNP: rs587780343
NCBI 1000 Genomes Browser:
rs587780343
Molecular consequence:
  • NM_001354802.1:c.-29G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000162.5:c.1112G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1112G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1115G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1109G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gestational diabetes
Synonyms:
Diabetes mellitus, gestational; Maternal diabetes
Identifiers:
MONDO: MONDO:0005406; MedGen: C0085207; Human Phenotype Ontology: HP:0009800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072029Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely pathogenic
(Oct 23, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002072029.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

DNA sequence analysis of the GCK gene demonstrated a sequence change, c.1112G>T, in exon 9 that results in an amino acid change, p.Cys371Phe. The p.Cys371Phe change affects a highly conserved amino acid residue located in a Hexokinase domain of the GCK protein that is known to be functional. The p.Cys371Phe substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This particular amino acid change has been described in the literature in two families with MODY (PMID: 19790256). This sequence change is absent from the large population databases such as ExAC and gnomAD (dbSNP rs587780343). Different sequence changes affecting the same amino acid residue (p.Cys371Arg, p.Cys371Trp, p.Cys371Trp) have also been described in patients with GCK-related MODY (PMID: 19790256)

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

Last Updated: Jul 15, 2024