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NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000348313.4
Variation ID:
348313
Description:
single nucleotide variant
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NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)

Allele ID
294416
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186209206 (GRCh38) GRCh38 UCSC
4: 187130360 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_565:g.5228G>A
NC_000004.11:g.187130360G>A
NC_000004.12:g.186209206G>A
... more HGVS
Protein change
E447K
Other names
-
Canonical SPDI
NC_000004.12:186209205:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA3162835
dbSNP: rs200623218
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 Jan 13, 2018 RCV000276069.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000368375.2
Uncertain significance 1 criteria provided, single submitter Sep 11, 2020 RCV001210445.2
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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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Corneal dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448865.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Bietti crystalline corneoretinal dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448864.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001381933.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 447 of the CYP4V2 protein (p.Glu447Lys). The glutamic acid residue is highly conserved and there … (more)

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 rs200623218...

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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 Oct 08, 2021