NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC AND Bietti crystalline corneoretinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000369445.2

Allele description [Variation Report for NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC]

NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC

Gene:
CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC
HGVS:
  • NC_000004.12:g.186211698delinsCACACACACACACACACACACATACAC
  • NG_007965.1:g.25179delinsCACACACACACACACACACACATACAC
  • NG_012095.2:g.7720delinsCACACACACACACACACACACATACAC
  • NM_207352.4:c.*1057delinsCACACACACACACACACACACATACACMANE SELECT
  • LRG_565:g.7720delinsCACACACACACACACACACACATACAC
  • NC_000004.11:g.187132852delinsCACACACACACACACACACACATACAC
  • NM_207352.3:c.*1057delTinsCACACACACACACACACACACATACAC
Links:
dbSNP: rs869178465
NCBI 1000 Genomes Browser:
rs869178465
Molecular consequence:
  • NM_207352.4:c.*1057delinsCACACACACACACACACACACATACAC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000448927Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000448927.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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