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NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Jan 31, 2024
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:
RCV000132719.16

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172673Department of Ophthalmology and Visual Sciences Kyoto University
no assertion criteria provided
probable-non-pathogenicnot providednot provided

SCV001726720Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 31, 2024)
germlineclinical testing

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

SCV001899699GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Mar 14, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172673.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Invitae, SCV001726720.4

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

From GeneDx, SCV001899699.1

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

Last Updated: May 19, 2024