NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser) 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:
RCV000309066.2

Allele description [Variation Report for NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser)]

NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser)

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.311A>G (p.Asn104Ser)
HGVS:
  • NC_000004.12:g.186194596A>G
  • NG_007965.1:g.8077A>G
  • NM_207352.4:c.311A>GMANE SELECT
  • NP_997235.3:p.Asn104Ser
  • NC_000004.11:g.187115750A>G
  • NM_207352.3:c.311A>G
Protein change:
N104S
Links:
dbSNP: rs886059281
NCBI 1000 Genomes Browser:
rs886059281
Molecular consequence:
  • NM_207352.4:c.311A>G - 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
SCV000448823Illumina 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, SCV000448823.2

#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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