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NM_000162.5(GCK):c.769T>C (p.Trp257Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 3, 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:
RCV000516870.2

Allele description [Variation Report for NM_000162.5(GCK):c.769T>C (p.Trp257Arg)]

NM_000162.5(GCK):c.769T>C (p.Trp257Arg)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.769T>C (p.Trp257Arg)
HGVS:
  • NC_000007.14:g.44147744A>G
  • NG_008847.2:g.55427T>C
  • NM_000162.5:c.769T>CMANE SELECT
  • NM_001354800.1:c.769T>C
  • NM_033507.3:c.772T>C
  • NM_033508.3:c.766T>C
  • NP_000153.1:p.Trp257Arg
  • NP_001341729.1:p.Trp257Arg
  • NP_277042.1:p.Trp258Arg
  • NP_277043.1:p.Trp256Arg
  • LRG_1074t1:c.769T>C
  • LRG_1074t2:c.772T>C
  • LRG_1074:g.55427T>C
  • LRG_1074p1:p.Trp257Arg
  • LRG_1074p2:p.Trp258Arg
  • NC_000007.13:g.44187343A>G
  • NM_000162.3:c.769T>C
  • p.TRP257ARG
Protein change:
W256R
Links:
dbSNP: rs1554335135
NCBI 1000 Genomes Browser:
rs1554335135
Molecular consequence:
  • NM_000162.5:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.766T>C - 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
SCV000613456Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jul 3, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.

J Biol Chem. 1993 Jul 15;268(20):15200-4.

PubMed [citation]
PMID:
8325892

Linkage analysis and molecular scanning of glucokinase gene in NIDDM families.

Zouali H, Vaxillaire M, Lesage S, Sun F, Velho G, Vionnet N, Chiu K, Passa P, Permutt A, Demenais F, et al.

Diabetes. 1993 Sep;42(9):1238-45.

PubMed [citation]
PMID:
8349034
See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics, SCV000613456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024