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NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000039261.6
Variation ID:
39261
Description:
single nucleotide variant
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NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)

Allele ID
47867
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.1
Genomic location
4: 186194568 (GRCh38) GRCh38 UCSC
4: 187115722 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187115722G>A
NC_000004.12:g.186194568G>A
NG_007965.1:g.8049G>A
NM_207352.4:c.283G>A MANE Select NP_997235.3:p.Gly95Arg missense
Protein change
G95R
Other names
c.587G>A
Canonical SPDI
NC_000004.12:186194567:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA343726
dbSNP: rs199476187
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Feb 1, 2021 RCV001221420.3
Likely pathogenic 2 criteria provided, single submitter Jan 30, 2021 RCV000032538.4
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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
Pathogenic
(Jul 24, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001393465.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with arginine at codon 95 of the CYP4V2 protein (p.Gly95Arg). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jan 30, 2021)
criteria provided, single submitter
Method: clinical testing
Bietti crystalline corneoretinal dystrophy
Allele origin: germline
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548158.1
Submitted: (Mar 19, 2021)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748107.1
Submitted: (Jul 04, 2021)
Evidence details
pathologic
(Apr 12, 2012)
no assertion criteria provided
Method: curation
Bietti Crystalline Dystrophy
Allele origin: not provided
GeneReviews
Accession: SCV000056204.2
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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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Title Author Journal Year Link
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. Maggi J International journal of molecular sciences 2021 PMID: 33546218
Bietti Crystalline Dystrophy Vargas M - 2019 PMID: 22497028
Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients. García-García GP Acta ophthalmologica 2018 PMID: 29691984
Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy. Meng XH Molecular vision 2014 PMID: 25593508
Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. Yin H PloS one 2014 PMID: 24739949
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Shan M Molecular vision 2005 PMID: 16179904

Text-mined citations for rs199476187...

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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