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NM_207352.4(CYP4V2):c.759dup (p.His254fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 8, 2013)
Last evaluated:
Apr 12, 2012
Accession:
VCV000039269.2
Variation ID:
39269
Description:
1bp duplication
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NM_207352.4(CYP4V2):c.759dup (p.His254fs)

Allele ID
47875
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
4q35.1
Genomic location
4: 186199039-186199040 (GRCh38) GRCh38 UCSC
4: 187120193-187120194 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187120195dup
NC_000004.12:g.186199041dup
NG_007965.1:g.12522dup
NM_207352.4:c.759dup MANE Select NP_997235.3:p.His254fs frameshift
Protein change
H254fs
Other names
c.1062_1063dupA
Canonical SPDI
NC_000004.12:186199039:AA:AAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA343737
dbSNP: rs199476192
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 12, 2012 RCV000032546.3
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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
pathologic
(Apr 12, 2012)
no assertion criteria provided
Method: curation
Bietti Crystalline Dystrophy
Allele origin: not provided
GeneReviews
Accession: SCV000056213.2
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
Bietti Crystalline Dystrophy Vargas M - 2019 PMID: 22497028

Text-mined citations for rs199476192...

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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