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NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000348334.2
Variation ID:
348334
Description:
10bp insertion
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NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA

Allele ID
297955
Variant type
Insertion
Variant length
10 bp
Cytogenetic location
4q35.2
Genomic location
4: 186211694-186211695 (GRCh38) GRCh38 UCSC
4: 187132848-187132849 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_565:g.7719_7720insCACACATACA
NC_000004.11:g.187132851_187132852insCACACATACA
NC_000004.12:g.186211697_186211698insCACACATACA
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186211694:ACA:ACACACACATACA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10620695
dbSNP: rs1554075269
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 Jun 14, 2016 RCV000275244.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000385954.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP4V2 - - GRCh38
GRCh37
308 440

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Corneal Dystrophy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448910.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Bietti Crystalline Dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448911.2
Submitted: (Oct 18, 2016)
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 rs1554075269...

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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 Sep 29, 2021