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Updated policy on use of HGVS nomenclature

6 months ago

We have reviewed our policy on the use of HGVS nomenclature for the naming of DNA sequence variants. The most significant changes made are as follows:

  • EMQN expects laboratories to report their results using HGVS nomenclature (http://varnomen.hgvs.org/) recommending that laboratories implement the latest version (currently v. 19.01).
  • In the technical EQA scheme for Sanger Sequencing it is no longer required that variants are reported using full HGVS genotype nomenclature e.g. it is acceptable to state: “…is heterozygous for the CFTR c.1521_1523delCTT p.(Phe508del) variant”, rather than stating the full genotype c.[1521_1523delCTT];[=] p.[(Phe508del)];[(=)].  Additionally it is acceptable to describe an allele with no clinically relevant variants in words rather than using HGVS e.g. no pathogenic variant identified (homozygous).

To download a copy of the latest version (v10), please visit this link DOC2702 EMQN Variant Nomenclature Policy v10.

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