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NM_000208.4(INSR):c.783C>T (p.Asp261=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 11, 2020)
Last evaluated:
Oct 22, 2019
Accession:
VCV000330475.5
Variation ID:
330475
Description:
single nucleotide variant
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NM_000208.4(INSR):c.783C>T (p.Asp261=)

Allele ID
344498
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7184518 (GRCh37) GRCh37 UCSC
19: 7184507 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7184507G>A
NC_000019.9:g.7184518G>A
NG_008852.2:g.114494C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7184506:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.13858 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.11593
Trans-Omics for Precision Medicine (TOPMed) 0.11904
1000 Genomes Project 0.13858
Trans-Omics for Precision Medicine (TOPMed) 0.12064
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.12548
The Genome Aggregation Database (gnomAD) 0.11869
Links
ClinGen: CA9136013
dbSNP: rs891087
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000298876.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000352574.2
Benign 1 criteria provided, single submitter Jan 26, 2018 RCV000506853.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000406923.2
Benign 1 criteria provided, single submitter Oct 22, 2019 RCV001282869.2
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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
Benign
(Jan 26, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859448.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
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: SCV000415561.3
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)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Leprechaunism syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000415559.3
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)
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: SCV000415560.3
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)
Benign
(Oct 22, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604048.4
Submitted: (Dec 11, 2020)
Evidence details

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 rs891087...

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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