PharmVar

Humbled to see #PharmVar and #CPIC on this month’s #CPT cover. Both our recent GeneFocus articles on #CYP2A6 and #CYP4F2 are in this issue and highlighted in an Editorial by Kathy Giacomini and Piet van der Graf. Thank you PharmVar experts for all your contributions!

#PharmVar just published a GeneFocus on #CYP2A6. This review introduces CYP2A6 and details genetic variation using star allele nomenclature. Must read if CYP2A6 is among your favorite genes! A big thank you to all the experts serving on the CYP2A6 gene expert panel and authoring the paper.

AMP, ACMG, CPIC, CAP, DPWG, ESPT, #PharmGKB, and #PharmVar’s latest consensus guideline help design clinical DPYD genotyping assays, aiding in the identification of individuals at risk for severe fluoropyrimidine toxicity. #Genetics #PGxTesting

#PharmVar just posted three new #CYP2D6 star alleles (*173, *174 and *175). Thanks Charity Nofziger of #PharmGenetix for submitting!

Improved access to variant frequency information - The frequency of a variant displayed in the Variant Window is now directly sourced from the latest version of gnomAD  - The frequency provided in the Variant Window represents the global frequency of the variant which may considerably vary across populations - Variant frequencies can now also easily be accessed via the external resources link to the #PharmGKB SNP page - Note that the frequency of a variant does not reflect the frequency of a haplotype (or star allele) if it is part of two or more haplotypes 

The #NAT workshop planning committee is soliciting speakers for its international workshop on N-acetyltransferases that will be held on Sept 25 as a satellite of the #PGRN Scientific Meeting at the Ohio State University in Columbus, Ohio. If you are interested to present your work please contact David Hein at david.hein@louisville.edu. Please share

#PharmVar gene page headers have a new design! It is now easier than ever to directly link to the corresponding gene pages of our #ClinPGx partners #CPIC and #PharmGKB. Links to our Read Me, Change Log, Structural Variation and More documents are now also in the header to make them easier to find

#PharmVar has a new gene! We are excited to announce that #NAT2 nomenclature has been transferred from the original Database of Arylamine N-Acetyltransferases (NATs) to #PharmVar. A big shout out goes to the expert panel which has diligently worked over the last couple of years to make this happen. We also thank the outgoing Nomenclature Committee for their services to the NAT community since 1998, and Sotiria Boukouvala and David Hein for their leadership during the transition, and continuing support for #PharmVar NAT2 nomenclature as we move forward. To provide NAT2 nomenclature according to PharmVar rules and standards, the following changes and updates have been made: ·      All haplotypes are now defined against the current RefSeq NG_012246.1 ·      Lifting star allele definitions to NG_012246.1 caused a SNP “switch” for c.803G>A (alleles that previously had this SNP “lost” it while those without now “gained” this SNP) ·      Introduction of NAT2*1 with *1.001 matching NG_012246.1 ·      Expanded region for star allele definitions now includes exon 1 and the 3’UTR ·      Several haplotypes were renamed or not transferred More info (Read Me and Change Log documents) can be found on the new NAT2 PharmVar page at https://lnkd.in/gGhWw4Xt. Under “More Documents” check out the Look-up table which lists old and new star allele names and indicates which ones have been transferred or not. PharmVar welcomes submissions for novel NAT2 star alleles but also all others to solidify their definitions. 

#PharmVar has a new gene! We are excited to announce that #NAT2 nomenclature has been transferred from the original Database of Arylamine N-Acetyltransferases (NATs) to #PharmVar. A big shout out goes to the expert panel which has diligently worked over the last couple of years to make this happen. We also thank the outgoing Nomenclature Committee for their services to the NAT community since 1998, and Sotiria Boukouvala and David Hein for their leadership during the transition, and continuing support for #PharmVar NAT2 nomenclature as we move forward. To provide NAT2 nomenclature according to PharmVar rules and standards, the following changes and updates have been made: ·      All haplotypes are now defined against the current RefSeq NG_012246.1 ·      Lifting star allele definitions to NG_012246.1 caused a SNP “switch” for c.803G>A (alleles that previously had this SNP “lost” it while those without now “gained” this SNP) ·      Introduction of NAT2*1 with *1.001 matching NG_012246.1 ·      Expanded region for star allele definitions now includes exon 1 and the 3’UTR ·      Several haplotypes were renamed or not transferred More info (Read Me and Change Log documents) can be found on the new NAT2 PharmVar page at https://lnkd.in/gGhWw4Xt. Under “More Documents” check out the Look-up table which lists old and new star allele names and indicates which ones have been transferred or not. PharmVar welcomes submissions for novel NAT2 star alleles but also all others to solidify their definitions. 

#PharmVar is now on Linked In. Follow us to receive the latest news and updates