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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 15, 2015)
Last evaluated:
Sep 5, 2014
Accession:
VCV000014693.2
Variation ID:
14693
Description:
single nucleotide variant
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NM_000208.4(INSR):c.707A>G (p.His236Arg)

Allele ID
29732
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7184583 (GRCh38) GRCh38 UCSC
19: 7184594 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P06213:p.His236Arg
NC_000019.10:g.7184583T>C
NC_000019.9:g.7184594T>C
... more HGVS
Protein change
H236R
Other names
-
Canonical SPDI
NC_000019.10:7184582:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Links
ClinGen: CA124236
UniProtKB: P06213#VAR_004084
OMIM: 147670.0014
dbSNP: rs121913145
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 5, 2014 RCV000015808.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INSR - - GRCh38
GRCh37
496 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 05, 2014)
criteria provided, single submitter
Method: clinical testing
Leprechaunism
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247625.1
Submitted: (Sep 15, 2015)
Evidence details
Pathogenic
(Nov 05, 1991)
no assertion criteria provided
Method: literature only
DONOHUE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000036075.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sequencing analysis of insulin receptor defects and detection of two novel mutations in <i>INSR</i> gene. Ardon O Molecular genetics and metabolism reports 2014 PMID: 27896077
Substitution of arginine for histidine at position 209 in the alpha-subunit of the human insulin receptor. A mutation that impairs receptor dimerization and transport of receptors to the cell surface. Kadowaki T The Journal of biological chemistry 1991 PMID: 1657953
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. Kadowaki T The Journal of clinical investigation 1990 PMID: 2365819

Text-mined citations for rs121913145...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021