NM_000208.4(INSR):c.707A>G (p.His236Arg) AND Leprechaunism syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000015808.26

Allele description [Variation Report for NM_000208.4(INSR):c.707A>G (p.His236Arg)]

NM_000208.4(INSR):c.707A>G (p.His236Arg)

Gene:
INSR:insulin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000208.4(INSR):c.707A>G (p.His236Arg)
HGVS:
  • NC_000019.10:g.7184583T>C
  • NG_008852.2:g.114418A>G
  • NM_000208.4:c.707A>GMANE SELECT
  • NM_001079817.3:c.707A>G
  • NP_000199.2:p.His236Arg
  • NP_001073285.1:p.His236Arg
  • NC_000019.9:g.7184594T>C
  • NM_000208.2:c.707A>G
  • P06213:p.His236Arg
Protein change:
H236R; HIS236ARG
Links:
UniProtKB: P06213#VAR_004084; OMIM: 147670.0014; dbSNP: rs121913145
NCBI 1000 Genomes Browser:
rs121913145
Molecular consequence:
  • NM_000208.4:c.707A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079817.3:c.707A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leprechaunism syndrome
Synonyms:
Leprechaunism
Identifiers:
MONDO: MONDO:0009517; MedGen: C0265344; Orphanet: 508; OMIM: 246200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036075OMIMno assertion criteria providedPathogenic
(Nov 5, 1991)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000247625Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Pathogenic
(Sep 5, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O, Procter M, Tvrdik T, Longo N, Mao R.

Mol Genet Metab Rep. 2014;1:71-84.

PubMed [citation]
PMID:
27896077
PMCID:
PMC5121292

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

Kadowaki T, Kadowaki H, Rechler MM, Serrano-Rios M, Roth J, Gorden P, Taylor SI.

J Clin Invest. 1990 Jul;86(1):254-64.

PubMed [citation]
PMID:
2365819
PMCID:
PMC296715
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036075.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Ardon et al. (2014) stated that this mutation is c.707A-G in exon 3 and results in an amino acid change his236 to arg (H236R), according to a revised INSR sequence (GenBank NC_000019).

In a case of Donohue syndrome (246200) in a consanguineous Winnipeg pedigree, Kadowaki et al. (1990) found homozygosity for a CAC-to-CGC mutation resulting in substitution of histidine by arginine (HIS209ARG, H209R). Kadowaki et al. (1991) demonstrated that this mutation impairs receptor dimerization and transport of receptors to the cell surface. The small number of receptors that are transported to the cell surface bind insulin with normal affinity and have normal tyrosine kinase activity.

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

From Genetic Services Laboratory,University of Chicago, SCV000247625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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