NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) AND not provided

Clinical significance:Benign (Last evaluated: May 5, 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:
RCV000966932.5

Allele description [Variation Report for NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)]

NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)

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.638G>A (p.Ser213Asn)
HGVS:
  • NC_000004.12:g.186197566G>A
  • NG_007965.1:g.11047G>A
  • NM_207352.4:c.638G>AMANE SELECT
  • NP_997235.3:p.Ser213Asn
  • NC_000004.11:g.187118720G>A
  • NM_207352.3:c.638G>A
  • Q6ZWL3:p.Ser213Asn
Protein change:
S213N
Links:
UniProtKB: Q6ZWL3#VAR_038607; dbSNP: rs34331648
NCBI 1000 Genomes Browser:
rs34331648
Molecular consequence:
  • NM_207352.4:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001114291Invitaecriteria provided, single submitter
Benign
(Nov 17, 2020)
germlineclinical testing

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

SCV001868416GeneDxcriteria provided, single submitter
Benign
(May 5, 2021)
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

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 Invitae, SCV001114291.3

#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, SCV001868416.1

#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: Sep 23, 2021

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