Recipes

A Recipe is not a class. It is a term defined to differentiate between a specialized CategoricalVariant and a general CategoricalVariant. These recipes are pre-defined CategoricalVariants with specific constraints that represent standard categorical variants that have been identified in variant knowledgebases and registries. Implementers are encouraged to use the recipes that exist whenever possible, but are free to create new recipes as needed in a given implementation. New recipes should be shared with the community on the Cat-VRS Discussion board.

Recipe

Used to represent

Representative example

Canonical Allele

Genomic sequence variants

NC_000001.11:g.1699974C>G

Categorical CNV

Copy number variants

GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3

Function Variant

Functional impact categories

BRCA2 loss of function variants

Gene Fusion

Gene fusions

BCR(ncbi:613)::ABL1(ncbi:25)

Protein Sequence Consequence

Amino acid sequence variants

NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)