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NM_000208.4(INSR):c.2736G>A (p.Arg912=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000211194.5
Variation ID:
211194
Description:
single nucleotide variant
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NM_000208.4(INSR):c.2736G>A (p.Arg912=)

Allele ID
208630
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7132264 (GRCh38) GRCh38 UCSC
19: 7132275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7132264C>T
NC_000019.9:g.7132275C>T
NG_008852.2:g.166737G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7132263:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00043
Trans-Omics for Precision Medicine (TOPMed) 0.00132
The Genome Aggregation Database (gnomAD), exomes 0.00033
1000 Genomes Project 0.00200
The Genome Aggregation Database (gnomAD) 0.00121
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
Links
ClinGen: CA207510
dbSNP: rs147125937
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 Nov 11, 2014 RCV000193783.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001132297.1
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001132299.1
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001132298.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000733051.3
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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
Uncertain significance
(Nov 11, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247619.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(May 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861068.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001034400.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001291952.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Leprechaunism syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001291953.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Pineal hyperplasia AND diabetes mellitus syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001291954.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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 rs147125937...

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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 Oct 30, 2021