This article outlines a standardized way to describe genetic variants.
Sue Richards PhD, Nazneen Aziz PhD, Sherri Bale PhD, David Bick MD, Soma Das PhD, Julie Gastier-Foster PhD, Wayne W. Grody MD, PhD, Madhuri Hegde PhD, Elaine Lyon PhD, Elaine Spector PhD, Karl Voelkerding MD & Heidi L. Rehm PhD; on behalf of the ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine (2015) 17, 405–423. doi:10.1038/gim.2015.30. Available in html format.