Pharmacogenomics Report for: J.S.




Clopidogrel, Sertraline, Codeine, Doxepin, Clomipramine, Tramadol, Mercaptopurine

 

Gene Pharmacovariants Diplotype Phenotype
CYP2C19 rs12769205/rs4244285 *2/*2 Poor Metabolizer
CYP2D6 rs28371732/rs16947-rs16947 *1/*2xN Ultra-rapid Metabolizer
TPMT rs1800462/rs1142345
*2/*3C Poor Metabolizer


Recommendations


Links to update







Clopidogrel, Sertraline, Codeine,
Doxepin, Clomipramine, Tramadol, Metoprolol, Mercaptopurine

 

Gene Pharmacovariants Diplotype Phenotype
CYP2C19 rs12769205/rs4244285 *2/*2 Poor Metabolizer
CYP2D6 rs28371732/rs16947-rs16947 *1/*2xN Ultra-rapid Metabolizer
TPMT rs1800462/rs1142345
*2/*3C Poor Metabolizer


Recommendations





  • Whole exome sequencing revealed rs140394156 variant in FMO2 gene.
  • J.S. is heterozygous for FMO2 missense non-synonymous variant c.497T>C p.(Phe166Ser) (details below), which is categorized as PATHOGENIC through multi-tools assessment.
  • The variant is predicted by SIFT, Polyphen2, CADD (as an independent tool), and Provean in addition to REVEL and MetaLR (in Ensembl variant table), VEP, VarSeq and VarAFT (comprehensive bioinformatic tools containing dbNSFP, ANNOVAR, FATHAMM, Mutation taster, Mutation assessor, etc.) to have a deleterious effect (damaging) upon protein function.
Gene
FMO2
Transcript
NM_001460.3
Nomenclature
c.497T>C p.(Phe166Ser)
Zygosity
Het
Consequence
Missense variant
Inheritance
?
Classification
Pathogenic
Assembly
GRCh38
Pos
1:171199358
REF/ALT
T/C
gnomAD AC/Ferq.
0.004
ACMG/ACGS
PM2 & PP3
supportive
Phenotype
-

 


None. This was a pre-emptive genotyping.

 

  • For research use only
    While ClinVAR listed this variant as "Likely Benign" for any clinical implications, but FMO2 protein (flavin containing dimethylaniline monoxygenase 2) is showing strong interaction with CYP family proteins as well as CYP2C9 and CYP2D6 within cellular pathway (string-db.org).


Links to update