NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001221420.3

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001393465Invitaecriteria provided, single submitter
Pathogenic
(Jul 24, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001748107CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Feb 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

Shan M, Dong B, Zhao X, Wang J, Li G, Yang Y, Li Y.

Mol Vis. 2005 Sep 12;11:738-43.

PubMed [citation]
PMID:
16179904

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.

García-García GP, Martínez-Rubio M, Moya-Moya MA, Pérez-Santonja JJ, Escribano J.

Acta Ophthalmol. 2018 Nov;96(7):e865-e873. doi: 10.1111/aos.13768. Epub 2018 Apr 25.

PubMed [citation]
PMID:
29691984
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001393465.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change replaces glycine with arginine at codon 95 of the CYP4V2 protein (p.Gly95Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs199476187, ExAC 0.006%). This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 16179904, 29691984, 25593508, 24739949). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 39261). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001748107.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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