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NM_000208.4(INSR):c.2666G>A (p.Arg889Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Mar 23, 2017
Accession:
VCV000500496.1
Variation ID:
500496
Description:
single nucleotide variant
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NM_000208.4(INSR):c.2666G>A (p.Arg889Gln)

Allele ID
491920
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7141693 (GRCh38) GRCh38 UCSC
19: 7141704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7141693C>T
NC_000019.9:g.7141704C>T
NG_008852.2:g.157308G>A
... more HGVS
Protein change
R889Q, R877Q
Other names
-
Canonical SPDI
NC_000019.10:7141692:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00054
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD) 0.00046
The Genome Aggregation Database (gnomAD) 0.00086
Links
ClinGen: CA9135495
dbSNP: rs187282966
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 23, 2017 RCV000594791.1
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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
Uncertain significance
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000706478.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=INSR - - - -

Text-mined citations for rs187282966...

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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