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NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) AND Bietti crystalline corneoretinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000032525.3

Allele description [Variation Report for NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)]

NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)

Gene:
CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)
HGVS:
  • NC_000004.12:g.186205232G>A
  • NG_007965.1:g.18713G>A
  • NG_012095.2:g.1254G>A
  • NM_207352.4:c.1020G>AMANE SELECT
  • NP_997235.3:p.Trp340Ter
  • LRG_565:g.1254G>A
  • NC_000004.11:g.187126386G>A
  • NM_207352.3:c.1020G>A
Nucleotide change:
c.1324G>A
Protein change:
W340*
Links:
dbSNP: rs199476198
NCBI 1000 Genomes Browser:
rs199476198
Molecular consequence:
  • NM_207352.4:c.1020G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Bietti crystalline corneoretinal dystrophy (BCD)
Synonyms:
Bietti tapetoretinal degeneration with marginal corneal dystrophy; Bietti Crystalline Dystrophy
Identifiers:
MONDO: MONDO:0008865; MedGen: C1859486; OMIM: 210370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056188GeneReviews
no assertion criteria provided
pathologic
(Apr 12, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000056188.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024