NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter) 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:: RCV000032534.3

Allele description [Variation Report for NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)]

NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)

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.1445C>A (p.Ser482Ter)

HGVS:

NC_000004.12:g.186210508C>A
NG_007965.1:g.23989C>A
NG_012095.2:g.6530C>A
NM_207352.4:c.1445C>AMANE SELECT
NP_997235.3:p.Ser482Ter
LRG_565:g.6530C>A
NC_000004.11:g.187131662C>A
NM_207352.3:c.1445C>A

Nucleotide change:

c.1749C>A

Protein change:

S482*

Links:

dbSNP: rs146494374

NCBI 1000 Genomes Browser:

rs146494374

Molecular consequence:

NM_207352.4:c.1445C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056198	GeneReviews	no assertion criteria provided	pathologic (Apr 12, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056198

GeneReviews

no assertion criteria provided

pathologic
(Apr 12, 2012)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000056198.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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