HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme

Abstract

The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom National External Quality Assessment Scheme (UK NEQAS) for Molecular Genetics, we assessed the current variability in the use and interpretation of the guidelines by diagnostic laboratories based across the globe. Twenty-six participating laboratories gave 21 different descriptions. Six laboratories gave fully compliant HGVS descriptions, 12 laboratories reported the correct variant, although not using the recommended format, whilst eight laboratory reports (31%) were not correct. The results indicate that available tools to check variant descriptions were not used. We conclude that education appears to be the way forward to eliminate the observed variability in data reporting.

Keywords: mutation; nomenclature; quality assessment; standards; variant.