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NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 2021
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:
RCV001852653.4

Allele description [Variation Report for NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)]

NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)

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.1020G>A (p.Trp340Ter)
HGVS:
  • NC_000004.12:g.186205232G>A
  • NG_007965.1:g.18713G>A
  • NG_012095.2:g.1254G>A
  • NM_207352.4:c.1020G>AMANE SELECT
  • NP_997235.3:p.Trp340Ter
  • LRG_565:g.1254G>A
  • NC_000004.11:g.187126386G>A
  • NM_207352.3:c.1020G>A
Nucleotide change:
c.1324G>A
Protein change:
W340*
Links:
dbSNP: rs199476198
NCBI 1000 Genomes Browser:
rs199476198
Molecular consequence:
  • NM_207352.4:c.1020G>A - 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
SCV002242018Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 17, 2021) 		germlineclinical testing

PubMed (6)
[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

CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.

Gekka T, Hayashi T, Takeuchi T, Goto-Omoto S, Kitahara K.

Ophthalmic Res. 2005 Sep-Oct;37(5):262-9. Epub 2005 Jul 27.

PubMed [citation]
PMID:
16088246

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Huang L, Zhang Q, Huang X, Qu C, Ma S, Mao Y, Yang J, Li Y, Li Y, Tan C, Zhao P, Yang Z.

Sci Rep. 2017 May 16;7(1):1948. doi: 10.1038/s41598-017-00963-6.

PubMed [citation]
PMID:
28512305
PMCID:
PMC5434011
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002242018.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 39248). This premature translational stop signal has been observed in individual(s) with CYP4V2-related conditions (PMID: 16088246, 28512305, 29785639). This variant is present in population databases (rs199476198, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Trp340*) 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).

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

Last Updated: Sep 29, 2024