Transcription of ACGS Best Practice Guidelines for Variant Classification 2019
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ACGS Best Practice Guidelines for Variant Classification 2019
Copyright ACGS 2019 Page 1 ACGS Best Practice Guidelines for Variant Classification 2019 Sian Ellard1,2, Emma L Baple2,3,4, Ian Berry5, Natalie Forrester6, Clare Turnbull4, Martina Owens1, Diana M Eccles7, Stephen Abbs8, Richard Scott4,9, Zandra C Deans10, Tracy Lester11, Jo Campbell12, William G Newman13,14 and Dominic J McMullan15 1. Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK. 2. University of Exeter Medical School, Exeter, EX2 5DW, UK. 3. Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK. 4. Genomics England, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK 5. Leeds Genetics Laboratory, St James s University Hospital, Leeds LS9 7TF, UK.
There are two categories of evidence within the ACMG/AMP guidelines that incorporate information regarding the patient’s phenotype; the de novo variant assessment, PS2/PM6, and the phenotype specificity, PP4. The de novo variant evidence assessment is recorded using the PS2 and PM6 criteria. PS2
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