NM_000162.5(GCK):c.682A>G (p.Thr228Ala) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000516688.1

Allele description [Variation Report for NM_000162.5(GCK):c.682A>G (p.Thr228Ala)]

NM_000162.5(GCK):c.682A>G (p.Thr228Ala)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
HGVS:
  • NC_000007.14:g.44147831T>C
  • NG_008847.2:g.55340A>G
  • NM_000162.5:c.682A>GMANE SELECT
  • NM_001354800.1:c.682A>G
  • NM_033507.3:c.685A>G
  • NM_033508.3:c.679A>G
  • NP_000153.1:p.Thr228Ala
  • NP_001341729.1:p.Thr228Ala
  • NP_277042.1:p.Thr229Ala
  • NP_277043.1:p.Thr227Ala
  • LRG_1074t1:c.682A>G
  • LRG_1074t2:c.685A>G
  • LRG_1074:g.55340A>G
  • LRG_1074p1:p.Thr228Ala
  • LRG_1074p2:p.Thr229Ala
  • NC_000007.13:g.44187430T>C
  • NM_000162.3:c.682A>G
  • NM_000162.4(GCK):c.682A>G
  • p.THR228ALA
  • p.Thr228Ala
Protein change:
T227A
Links:
dbSNP: rs1332966015
NCBI 1000 Genomes Browser:
rs1332966015
Molecular consequence:
  • NM_000162.5:c.682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613450Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Nov 3, 2017)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

Mantovani V, Salardi S, Cerreta V, Bastia D, Cenci M, Ragni L, Zucchini S, Parente R, Cicognani A.

Hum Mutat. 2003 Oct;22(4):338.

PubMed [citation]
PMID:
12955723

Identification and characterization of the ATP-binding site in human pancreatic glucokinase.

Marotta DE, Anand GR, Anderson TA, Miller SP, Okar DA, Levitt DG, Lange AJ.

Arch Biochem Biophys. 2005 Apr 1;436(1):23-31.

PubMed [citation]
PMID:
15752705
See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics Inc, SCV000613450.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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