Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_207352.4(CYP4V2):c.802-6_810del

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV000854856.2
Variation ID:
854856
Description:
15bp deletion
Help

NM_207352.4(CYP4V2):c.802-6_810del

Allele ID
851120
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
4q35.2
Genomic location
4: 186201151-186201165 (GRCh38) GRCh38 UCSC
4: 187122305-187122319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187122305_187122319del
NC_000004.12:g.186201151_186201165del
NM_207352.4:c.802-6_810del MANE Select splice acceptor
NG_007965.1:g.14632_14646del
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186201150:ATACAGGTCATCGCT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 15, 2020 RCV001059989.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001224646.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant is a deletion of the genomic region encompassing part of exon 7 (c.802-8_810delinsGC) of the CYP4V2 gene. It is expected to disrupt RNA … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Comprehensive screening of <i>CYP4V2</i> in a cohort of Chinese patients with Bietti crystalline dystrophy. Zhang X Molecular vision 2018 PMID: 30429639
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. Jiao X European journal of human genetics : EJHG 2017 PMID: 28051075
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Lee KY Investigative ophthalmology & visual science 2005 PMID: 16186368
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Li A American journal of human genetics 2004 PMID: 15042513

Record last updated May 10, 2021