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NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1995
Accession:
VCV000014700.2
Variation ID:
14700
Description:
single nucleotide variant
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NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)

Allele ID
29739
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7120707 (GRCh38) GRCh38 UCSC
19: 7120718 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7120707C>T
NC_000019.9:g.7120718C>T
NG_008852.2:g.178294G>A
... more HGVS
Protein change
R1179Q, R1191Q
Other names
-
Canonical SPDI
NC_000019.10:7120706:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA124248
UniProtKB: P06213#VAR_004098
OMIM: 147670.0021
dbSNP: rs121913150
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 1995 RCV000015815.31
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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
495 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 1995)
no assertion criteria provided
Method: literature only
TYPE 2 DIABETES MELLITUS
Allele origin: germline
OMIM
Accession: SCV000036082.6
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
Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population. Esposito L Human genetics 1995 PMID: 7814014
NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. Cocozza S Diabetes 1992 PMID: 1607076

Text-mined citations for rs121913150...

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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 20, 2021