U.S. flag

An official website of the United States government

NM_000162.5(GCK):c.482A>G (p.Lys161Arg) AND Maturity onset diabetes mellitus in young

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 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:
RCV003330073.2

Allele description [Variation Report for NM_000162.5(GCK):c.482A>G (p.Lys161Arg)]

NM_000162.5(GCK):c.482A>G (p.Lys161Arg)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
HGVS:
  • NC_000007.14:g.44150957T>C
  • NG_008847.2:g.52214A>G
  • NM_000162.5:c.482A>GMANE SELECT
  • NM_001354800.1:c.482A>G
  • NM_033507.3:c.485A>G
  • NM_033508.3:c.479A>G
  • NP_000153.1:p.Lys161Arg
  • NP_001341729.1:p.Lys161Arg
  • NP_277042.1:p.Lys162Arg
  • NP_277043.1:p.Lys160Arg
  • LRG_1074t1:c.482A>G
  • LRG_1074t2:c.485A>G
  • LRG_1074:g.52214A>G
  • LRG_1074p1:p.Lys161Arg
  • LRG_1074p2:p.Lys162Arg
  • NC_000007.13:g.44190556T>C
Protein change:
K160R
Molecular consequence:
  • NM_000162.5:c.482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on RNA splicing function [Variation Ontology: 0397]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004037076Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital, SCV004037076.1

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

Description

minigene showed effect on RNA splicing: exon 4 skipping (r.364_483del, p.Leu122_Lys161del) as major transcript and deletion of the last 24 bp of exon 4 as minor transcript (r.556_579del, p.Val154_Lys161del). PS3 PM2

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

Last Updated: Jun 23, 2024