NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000711759.3

Allele description [Variation Report for NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)]

NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
HGVS:
  • NC_000007.14:g.44145510T>C
  • NG_008847.2:g.57661A>G
  • NM_000162.5:c.1240A>GMANE SELECT
  • NM_001354800.1:c.1240A>G
  • NM_001354801.1:c.229A>G
  • NM_001354802.1:c.100A>G
  • NM_001354803.2:c.274A>G
  • NM_033507.3:c.1243A>G
  • NM_033508.3:c.1237A>G
  • NP_000153.1:p.Lys414Glu
  • NP_001341729.1:p.Lys414Glu
  • NP_001341730.1:p.Lys77Glu
  • NP_001341731.1:p.Lys34Glu
  • NP_001341732.1:p.Lys92Glu
  • NP_277042.1:p.Lys415Glu
  • NP_277043.1:p.Lys413Glu
  • LRG_1074t1:c.1240A>G
  • LRG_1074t2:c.1243A>G
  • LRG_1074:g.57661A>G
  • LRG_1074p1:p.Lys414Glu
  • LRG_1074p2:p.Lys415Glu
  • NC_000007.13:g.44185109T>C
  • NM_000162.3(GCK):c.1240A>G
  • NM_000162.3:c.1240A>G
  • P35557:p.Lys414Glu
Protein change:
K34E
Links:
UniProtKB: P35557#VAR_003714; dbSNP: rs193922272
NCBI 1000 Genomes Browser:
rs193922272
Molecular consequence:
  • NM_000162.5:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354802.1:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842153Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jan 14, 2020)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Nitric Oxide Activates β-Cell Glucokinase by Promoting Formation of the "Glucose-Activated" State.

Seckinger KM, Rao VP, Snell NE, Mancini AE, Markwardt ML, Rizzo MA.

Biochemistry. 2018 Aug 28;57(34):5136-5144. doi: 10.1021/acs.biochem.8b00333. Epub 2018 Aug 10.

PubMed [citation]
PMID:
30053375
PMCID:
PMC6338087

Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells.

Cullen KS, Matschinsky FM, Agius L, Arden C.

Diabetes. 2011 Dec;60(12):3175-85. doi: 10.2337/db11-0423. Epub 2011 Oct 25.

PubMed [citation]
PMID:
22028181
PMCID:
PMC3219952
See all PubMed Citations (8)

Details of each submission

From Athena Diagnostics Inc, SCV000842153.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. The gain of a new splice site is predicted. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Nov 27, 2021

Support Center