diff --git a/schema/cat-vrs/cat-vrs-source.yaml b/schema/cat-vrs/cat-vrs-source.yaml index fee5c74..5650e49 100644 --- a/schema/cat-vrs/cat-vrs-source.yaml +++ b/schema/cat-vrs/cat-vrs-source.yaml @@ -207,4 +207,34 @@ $defs: - EFO:0030071 - EFO:0030072 required: - - copyChange \ No newline at end of file + - copyChange + + FunctionConstraint: + maturity: trial use + inherits: Constraint + type: object + description: >- + A categorical label of the function change that members of this categorical variant satisfies. + properties: + type: + extends: type + const: FunctionConstraint + default: FunctionConstraint + description: 'MUST be "FunctionConstraint"' + functionConsequence: + description: >- + A categorical label of the function change that members of this categorical variant satisfies, using ontology terms from [The Sequence Ontology](http://www.sequenceontology.org). ``SO:0002052`` refers to a [dominant negative variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002052), a variant where the mutated gene product adversely affects the other (wild type) gene product. ``SO:0002054`` refers to a [loss of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002054), a sequence variant whereby the gene product has diminished or abolished function. ``SO:0001561`` refers to a [polypeptide partial loss of function](http://www.sequenceontology.org/browser/current_release/term/SO:0001561), a sequence variant that causes some but not all loss of polypeptide function with respect to a reference sequence. ``SO:0002219`` refers to a [functionally normal](http://www.sequenceontology.org/browser/current_release/term/SO:0002219) variant, a sequence variant in which the function of a gene product is retained with respect to a reference. ``SO:0001557`` refers to a [polypeptide gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0001557), a sequence variant which causes gain of polypeptide function with respect to a reference sequence. ``SO:0002053`` refers to a [gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002053), a sequence variant whereby new or enhanced function is conferred on the gene product. + type: string + enum: + - SO:0002052 + - SO:0002054 + - SO:0001561 + - SO:0002219 + - SO:0001557 + - SO:0002053 + description: + description: >- + A free-text description of the function change. + type: string + required: + - functionConsequence \ No newline at end of file