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NM_207352.4(CYP4V2):c.1091-4T>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000348309.5
Variation ID:
348309
Description:
single nucleotide variant
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NM_207352.4(CYP4V2):c.1091-4T>A

Allele ID
297899
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186208861 (GRCh38) GRCh38 UCSC
4: 187130015 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187130015T>A
NC_000004.12:g.186208861T>A
NM_207352.4:c.1091-4T>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186208860:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01358 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01172
The Genome Aggregation Database (gnomAD), exomes 0.00293
Exome Aggregation Consortium (ExAC) 0.00392
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01338
1000 Genomes Project 0.01358
Trans-Omics for Precision Medicine (TOPMed) 0.01215
Links
dbSNP: rs61748269
ClinGen: CA3162758
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000339797.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000391112.2
Benign 1 criteria provided, single submitter Nov 26, 2020 RCV000968046.3
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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
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Corneal dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448855.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Bietti crystalline corneoretinal dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448856.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001115475.3
Submitted: (Jan 07, 2021)
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 rs61748269...

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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 Jun 14, 2021