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NM_000162.5(GCK):c.127C>T (p.Arg43Cys) AND Maturity-onset diabetes of the young type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 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:
RCV002285407.3

Allele description [Variation Report for NM_000162.5(GCK):c.127C>T (p.Arg43Cys)]

NM_000162.5(GCK):c.127C>T (p.Arg43Cys)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
Other names:
NM_000162.5(GCK):c.127C>T; p.Arg43Cys
HGVS:
  • NC_000007.14:g.44153382G>A
  • NG_008847.2:g.49789C>T
  • NM_000162.5:c.127C>TMANE SELECT
  • NM_001354800.1:c.127C>T
  • NM_033507.3:c.130C>T
  • NM_033508.3:c.124C>T
  • NP_000153.1:p.Arg43Cys
  • NP_001341729.1:p.Arg43Cys
  • NP_277042.1:p.Arg44Cys
  • NP_277043.1:p.Arg42Cys
  • LRG_1074t1:c.127C>T
  • LRG_1074t2:c.130C>T
  • LRG_1074:g.49789C>T
  • LRG_1074p1:p.Arg43Cys
  • LRG_1074p2:p.Arg44Cys
  • NC_000007.13:g.44192981G>A
  • NC_000007.13:g.44192981G>A
  • NM_000162.3:c.127C>T
Protein change:
R42C
Links:
dbSNP: rs1486280029
NCBI 1000 Genomes Browser:
rs1486280029
Molecular consequence:
  • NM_000162.5:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 2
Synonyms:
MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562156Geisinger Clinic, Geisinger Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 2, 2022) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch

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

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration., Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA.

Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17.

PubMed [citation]
PMID:
36257325
PMCID:
PMC9674944

Details of each submission

From Geisinger Clinic, Geisinger Health System, SCV002562156.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (2)

Description

PS4, PP1_Strong, PP2, PP3, PP4, PM2, PS3_Moderate, PM5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 13, 2024