ClinvarRiskFactorProposition¶

Draft

This data class is at a draft maturity level and may change significantly in future releases.

A custom proposition describing the role of a variant as a risk factor for a condition. Used for ClinVar submissions classified as "risk factor". ClinVar has stopped accepting new submissions with this classification in favor of standard pathogenicity terms, but historical submissions remain.

JSON Schema: ClinvarRiskFactorProposition

Some ClinvarRiskFactorProposition attributes are inherited from ClinvarGermlineCustomProposition.

Information Model¶

Field	Type	Limits	Description
`id`	`string`	0..1	The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
`type`	`string`	0..1	MUST be "ClinvarRiskFactorProposition"
`name`	`string`	0..1	A primary name for the entity.
`description`	`string`	0..1	A free-text description of the Entity.
`aliases`	`string`[] (unordered)	0..m	Alternative name(s) for the Entity.
`extensions`	`Extension`[] (unordered)	0..m	A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model.
`subject`	`MolecularVariation` \| `CategoricalVariant` \| `iriReference`	0..1	A variant that is the subject of the Proposition.
`predicate`	`string`	0..1	The relationship the Proposition describes between the subject variant and object condition. MUST be "isRiskFactorFor".
`object`	`Condition` \| `ConditionSet` \| `iriReference`	0..1	The condition for which the variant is associated.
`geneContextQualifier`	`MappableConcept` \| `iriReference`	0..1	Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
`modeOfInheritanceQualifier`	`MappableConcept` \| `iriReference`	0..1	Reports a pattern of inheritance expected for the effect of the variant.
`penetranceQualifier`	`MappableConcept` \| `iriReference`	0..1	Reports the penetrance of the effect - the extent to which the variant impact is expressed by carriers.