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NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 22, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001211043.5

Allele description [Variation Report for NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter)]

NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter)

Gene:
CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter)
HGVS:
  • NC_000004.12:g.186201283G>T
  • NG_007965.1:g.14764G>T
  • NM_207352.4:c.928G>TMANE SELECT
  • NP_997235.3:p.Glu310Ter
  • NC_000004.11:g.187122437G>T
  • NM_207352.3:c.928G>T
Protein change:
E310*
Links:
dbSNP: rs894863416
NCBI 1000 Genomes Browser:
rs894863416
Molecular consequence:
  • NM_207352.4:c.928G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001382564Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 22, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF.

Am J Hum Genet. 2004 May;74(5):817-26. Epub 2004 Mar 23.

PubMed [citation]
PMID:
15042513
PMCID:
PMC1181977

Generation and characterization of a murine model of Bietti crystalline dystrophy.

Lockhart CM, Nakano M, Rettie AE, Kelly EJ.

Invest Ophthalmol Vis Sci. 2014 Aug 12;55(9):5572-81. doi: 10.1167/iovs.13-13717.

PubMed [citation]
PMID:
25118264
PMCID:
PMC4160072
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001382564.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant has not been reported in the literature in individuals with CYP4V2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu310*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 20, 2024