title: Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
abstract: Currently, two nomenclature systems are in use to describe sequence variants for cystic fibrosis: the established traditional nomenclature system and the more recent Human Genome Variation Society (HGVS) nomenclature system. We have evaluated the use of both systems in the laboratory reports of 217 participants in the cystic fibrosis external quality assessment scheme of 2009. The mutation c.1521_1523delCTT (p.Phe508del, F508del) was described by traditional and HGVS nomenclature by 32 of 216 (15%) laboratories that correctly identified the mutation, whereas 171 (79%) laboratories used traditional nomenclature only and 13 (6%) laboratories used HGVS nomenclature only. Overall, 29 of 631 (5%) reports used nomenclature that was evaluated as being seriously incorrect and/or misleading and 136 (22%) reports contained attempts at HGVS coding, of which 104 (76%) contained no coding errors; just 33 (24%) mentioned the correct cDNA name and cited the nucleotide reference sequence. We recognized an urgent need for more consistent and correct usage of nomenclature. We recommended that cystic fibrosis transmembrane conductance regulator testing reports should include a description of the identified sequence variants in both HGVS and traditional nomenclature and provided basic recommendations and other guidance.
authors.affiliation: Center for Human Genetics, Biomedical Quality Assurance Research Unit, Katholieke Universiteit Leuven, Belgium.
authors.forename: Sarah
authors.initials: S
authors.lastname: Berwouts
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Girodon
authors.forename: Martin
authors.initials: M
authors.lastname: Schwarz
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Dequeker
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000145:classification / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D009154:Mutation; D011786:Quality Control; D017422:Sequence Analysis, DNA; D009626:Terminology as Topic
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator