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NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) AND Bietti crystalline corneoretinal dystrophy

Germline classification:
Benign (6 submissions)
Last evaluated:
Jul 30, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000032544.22

Allele description [Variation Report for NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)]

NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)

Genes:
LOC129993526:ATAC-STARR-seq lymphoblastoid silent region 15858 [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.64C>G (p.Leu22Val)
HGVS:
  • NC_000004.12:g.186191887C>G
  • NG_007965.1:g.5368C>G
  • NM_207352.4:c.64C>GMANE SELECT
  • NP_997235.3:p.Leu22Val
  • NP_997235.3:p.Leu22Val
  • NC_000004.11:g.187113041C>G
  • NM_207352.3:c.64C>G
  • Q6ZWL3:p.Leu22Val
Nucleotide change:
c.367C>G
Protein change:
L22V
Links:
UniProtKB: Q6ZWL3#VAR_038606; dbSNP: rs1055138
NCBI 1000 Genomes Browser:
rs1055138
Molecular consequence:
  • NM_207352.4:c.64C>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
SCV000056211GeneReviews
no assertion criteria provided
pathologic
(Apr 12, 2012)
not providedcuration

SCV000448813Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Jan 13, 2018)
germlineclinical testing

Citation Link,

SCV000734333Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

SCV001136794Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Benign
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001876505Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 30, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002503667Molecular Genetics, Royal Melbourne Hospital

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Nov 20, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From GeneReviews, SCV000056211.2

#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 Illumina Laboratory Services, Illumina, SCV000448813.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734333.1

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

From Mendelics, SCV001136794.1

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

From Genome-Nilou Lab, SCV001876505.1

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

From Molecular Genetics, Royal Melbourne Hospital, SCV002503667.2

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

Description

Population allele frequency is 45% (101,504/227,310 alleles; gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1

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

Last Updated: May 26, 2024