NM_000209.4(PDX1):c.590G>A (p.Arg197His) AND Diabetes mellitus type 2, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Nov 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001799500.10

Allele description [Variation Report for NM_000209.4(PDX1):c.590G>A (p.Arg197His)]

NM_000209.4(PDX1):c.590G>A (p.Arg197His)

Gene:

PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.2

Genomic location:

Preferred name:

NM_000209.4(PDX1):c.590G>A (p.Arg197His)

HGVS:

NC_000013.11:g.27924439G>A
NG_008183.1:g.9409G>A
NM_000209.4:c.590G>AMANE SELECT
NP_000200.1:p.Arg197His
NC_000013.10:g.28498576G>A
P52945:p.Arg197His

Protein change:

R197H; ARG197HIS

Links:

UniProtKB: P52945#VAR_009312; OMIM: 600733.0006; dbSNP: rs137852786

NCBI 1000 Genomes Browser:

rs137852786

Molecular consequence:

NM_000209.4:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Diabetes mellitus type 2, susceptibility to
Identifiers:: MedGen: C3837967

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029626	OMIM	no assertion criteria provided	risk factor (Nov 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029626

OMIM

no assertion criteria provided

risk factor
(Nov 1, 1999)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.

Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley AT.

J Clin Invest. 1999 Nov;104(9):R33-9.

PubMed [citation]

PMID:: 10545530
PMCID:: PMC481047

Details of each submission

From OMIM, SCV000029626.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Studying Caucasian diabetic and nondiabetic subjects from the United Kingdom, Macfarlane et al. (1999) identified 3 novel IPF1 missense mutations (C18R, 600733.0005; D76N, 600733.0002; and R197H) in patients with type 2 diabetes (125853). Functional analyses of these mutations demonstrated decreased binding activity to the human insulin gene promoter and reduced activation of the insulin gene in response to hyperglycemia in the human beta-cell line. These mutations were found in 1% of the population and predisposed the subject to type 2 diabetes with a relative risk of 3.0. They were not highly penetrant MODY mutations, as there were nondiabetic mutation carriers 25 to 53 years of age.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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