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NM_000162.5(GCK):c.131G>A (p.Gly44Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 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:
RCV001659731.2

Allele description [Variation Report for NM_000162.5(GCK):c.131G>A (p.Gly44Asp)]

NM_000162.5(GCK):c.131G>A (p.Gly44Asp)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.131G>A (p.Gly44Asp)
HGVS:
  • NC_000007.14:g.44153378C>T
  • NG_008847.2:g.49793G>A
  • NM_000162.5:c.131G>AMANE SELECT
  • NM_001354800.1:c.131G>A
  • NM_033507.3:c.134G>A
  • NM_033508.3:c.128G>A
  • NP_000153.1:p.Gly44Asp
  • NP_001341729.1:p.Gly44Asp
  • NP_277042.1:p.Gly45Asp
  • NP_277043.1:p.Gly43Asp
  • LRG_1074t1:c.131G>A
  • LRG_1074t2:c.134G>A
  • LRG_1074:g.49793G>A
  • LRG_1074p1:p.Gly44Asp
  • LRG_1074p2:p.Gly45Asp
  • NC_000007.13:g.44192977C>T
  • NM_000162.3:c.131G>A
Protein change:
G43D
Links:
dbSNP: rs193922279
NCBI 1000 Genomes Browser:
rs193922279
Molecular consequence:
  • NM_000162.5:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001880693Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Likely pathogenic
(Dec 22, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T, Cinek O, Lebl J.

Pediatr Diabetes. 2010 Dec;11(8):529-35. doi: 10.1111/j.1399-5448.2010.00646.x.

PubMed [citation]
PMID:
20337973

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.

Feigerlová E, Pruhová S, Dittertová L, Lebl J, Pinterová D, Kolostová K, Cerná M, Pedersen O, Hansen T.

Eur J Pediatr. 2006 Jul;165(7):446-52. Epub 2006 Apr 7.

PubMed [citation]
PMID:
16602010
See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics, SCV001880693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Computational tools predict that this variant is damaging.

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

Last Updated: May 7, 2024