NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) AND Bietti crystalline corneoretinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Jan 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000032538.4

Allele description [Variation Report for NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)]

NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)

Gene:
CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.1
Genomic location:
Preferred name:
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
HGVS:
  • NC_000004.12:g.186194568G>A
  • NG_007965.1:g.8049G>A
  • NM_207352.4:c.283G>AMANE SELECT
  • NP_997235.3:p.Gly95Arg
  • NC_000004.11:g.187115722G>A
  • NM_207352.3:c.283G>A
Nucleotide change:
c.587G>A
Protein change:
G95R
Links:
dbSNP: rs199476187
NCBI 1000 Genomes Browser:
rs199476187
Molecular consequence:
  • NM_207352.4:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056204GeneReviewsno assertion criteria providedpathologic
(Apr 12, 2012)
not providedcuration

SCV001548158Institute of Medical Molecular Genetics, University of Zurichcriteria provided, single submitter
Likely pathogenic
(Jan 30, 2021)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.

Int J Mol Sci. 2021 Feb 3;22(4). doi:pii: 1508. 10.3390/ijms22041508.

PubMed [citation]
PMID:
33546218
PMCID:
PMC7913364

Details of each submission

From GeneReviews, SCV000056204.2

#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

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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