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NM_000208.4(INSR):c.1610+23C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 27, 2021)
Last evaluated:
Jun 20, 2021
Accession:
VCV000439836.3
Variation ID:
439836
Description:
single nucleotide variant
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NM_000208.4(INSR):c.1610+23C>T

Allele ID
433298
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7167945 (GRCh38) GRCh38 UCSC
19: 7167956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7167945G>A
NC_000019.9:g.7167956G>A
NG_008852.2:g.131056C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7167944:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02656 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00849
The Genome Aggregation Database (gnomAD) 0.02661
The Genome Aggregation Database (gnomAD) 0.02818
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02937
Trans-Omics for Precision Medicine (TOPMed) 0.03007
The Genome Aggregation Database (gnomAD), exomes 0.00681
1000 Genomes Project 0.02656
Trans-Omics for Precision Medicine (TOPMed) 0.02874
Links
ClinGen: CA9135801
dbSNP: rs9676400
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 17, 2017 RCV000508527.2
Benign 1 criteria provided, single submitter Jun 20, 2021 RCV001712468.1
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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
Benign
(Jan 17, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604044.1
Submitted: (Jun 30, 2017)
Evidence details
Benign
(Jun 20, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001942606.1
Submitted: (Sep 27, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs9676400...

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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