ClinvarConfersSensitivityProposition¶
Draft
This data class is at a draft maturity level and may change significantly in future releases.
A proposition describing a variant that confers sensitivity to a condition or environmental factor. Used for ClinVar submissions classified as "confers sensitivity". ClinVar has stopped accepting new submissions with this classification, but historical submissions remain.
JSON Schema: ClinvarConfersSensitivityProposition
Some ClinvarConfersSensitivityProposition 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 "ClinvarConfersSensitivityProposition". |
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 "confersSensitivityFor". |
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. |