Title: Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme
Authors: Berwouts, Sarah
Morris, Michael A
Girodon, Emmanuelle
Schwarz, Martin
Stuhrmann, Manfred
Dequeker, Els # ×
Issue Date: 23-Nov-2011
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:32 issue:11 pages:1197-1203
Article number: 10.1002/humu.21569
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 out 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 CFTR testing genetic reports should include a description of the identified sequence variants in both HGVS and traditional nomenclature and provided basic recommendations and other guidance.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Biomedical Quality Assurance Research Unit
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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