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NM_000162.5(GCK):c.1265G>T (p.Arg422Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2022
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:
RCV002462481.1

Allele description [Variation Report for NM_000162.5(GCK):c.1265G>T (p.Arg422Leu)]

NM_000162.5(GCK):c.1265G>T (p.Arg422Leu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1265G>T (p.Arg422Leu)
HGVS:
  • NC_000007.14:g.44145269C>A
  • NG_008847.2:g.57902G>T
  • NM_000162.5:c.1265G>TMANE SELECT
  • NM_001354800.1:c.1265G>T
  • NM_001354801.1:c.254G>T
  • NM_001354802.1:c.125G>T
  • NM_001354803.2:c.299G>T
  • NM_033507.3:c.1268G>T
  • NM_033508.3:c.1262G>T
  • NP_000153.1:p.Arg422Leu
  • NP_001341729.1:p.Arg422Leu
  • NP_001341730.1:p.Arg85Leu
  • NP_001341731.1:p.Arg42Leu
  • NP_001341732.1:p.Arg100Leu
  • NP_277042.1:p.Arg423Leu
  • NP_277043.1:p.Arg421Leu
  • LRG_1074t1:c.1265G>T
  • LRG_1074t2:c.1268G>T
  • LRG_1074:g.57902G>T
  • LRG_1074p1:p.Arg422Leu
  • LRG_1074p2:p.Arg423Leu
  • NC_000007.13:g.44184868C>A
  • NM_000162.3:c.1265G>T
Protein change:
R100L
Molecular consequence:
  • NM_000162.5:c.1265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1265G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354802.1:c.125G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1262G>T - 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
SCV002757201GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002757201.1

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

Description

Reported in the heterozygous state in unrelated patients with diabetes in the published literature (Pihoker et al., 2013; Pandian et al., 2020); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23771925, 33218273)

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

Last Updated: May 19, 2024