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NM_000208.4(INSR):c.653-5_653-4insTC

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Mar 11, 2015
Accession:
VCV000435513.2
Variation ID:
435513
Description:
2bp insertion
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NM_000208.4(INSR):c.653-5_653-4insTC

Allele ID
430273
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
19p13.2
Genomic location
19: 7184641-7184642 (GRCh38) GRCh38 UCSC
19: 7184652-7184653 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7184641_7184642insGA
NC_000019.9:g.7184652_7184653insGA
NG_008852.2:g.114359_114360insTC
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:7184641::GA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA304866813
dbSNP: rs1555746859
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 11, 2015 RCV000501484.2
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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
Uncertain significance
(Mar 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000595245.1
Submitted: (Jul 05, 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 rs1555746859...

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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