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NM_000208.4(INSR):c.3259-31C>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 30, 2017)
Last evaluated:
Dec 8, 2016
Accession:
VCV000439833.2
Variation ID:
439833
Description:
single nucleotide variant
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NM_000208.4(INSR):c.3259-31C>T

Allele ID
433291
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7123020 (GRCh38) GRCh38 UCSC
19: 7123031 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7123020G>A
NC_000019.9:g.7123031G>A
NG_008852.2:g.175981C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7123019:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (A)

Allele frequency
1000 Genomes Project 0.00559
The Genome Aggregation Database (gnomAD), exomes 0.00971
Trans-Omics for Precision Medicine (TOPMed) 0.00840
The Genome Aggregation Database (gnomAD) 0.00852
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00979
Exome Aggregation Consortium (ExAC) 0.01342
Links
ClinGen: CA9135315
dbSNP: rs148813626
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 Dec 8, 2016 RCV000508055.2
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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
495 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604035.1
Submitted: (Jun 30, 2017)
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 rs148813626...

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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 11, 2021