AAC 2017 Aligned Profiles
The following profiles align with terminology and curation conventions from the 2017 AMP/ASCO/CAP (AAC) Clinical Variant Interpretation Guidelines.
These initial profiles were developed to support the following implementations and use cases:
Implementer |
Use Case |
|---|---|
VICC MetaKB |
Using VA-Spec models to structure diagnostic, prognostic, and therapeutic response variant classifications and evidence in its community-facing data exchange APIs. |
ClinVar Submission Utility |
Uses VA-Spec as input format for submission tools that send variant classifications and evidence from CIViC to the ClinVar database via its API. |
The number and coverage of these profiles will grow as these implementations expand their scope, and additional adopters bring new use cases to the spec.
Variant Therapeutic Response Statement (AAC 2017)
Warning
This data class is at a draft maturity level and may change significantly in future releases. Maturity levels are described in the maturity-model.
Computational Definition
A statement reporting whether a variant is associated with a therapeutic response (positive or negative).
Information Model
This profile applies the following constraints on top of the core Statement class definition:
Field |
Flags |
Type |
Limits |
Description |
|---|---|---|---|---|
proposition |
1..1 |
A proposition about the therapeutic response associated with a variant, in the context of a particular condition. The validity of this proposition, and the level of confidence/evidence supporting it, may be assessed and reported by the Statement. |
||
strength |
Mappable Concept (nested enum: Level A | Level B | Level C | Level D) |
0..1 |
A term used to report the strength of a Proposition’s assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
|
classification |
Mappable Concept (nested enum: Tier I | Tier II | Tier III | Tier IV) |
0..1 |
A single term or phrase summarizing the outcome of direction and strength assessments of a Statement’s Proposition, in terms of a classification of its subject. The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
Artifacts
Variant Diagnostic Statement (AAC 2017)
Warning
This data class is at a draft maturity level and may change significantly in future releases. Maturity levels are described in the maturity-model.
Computational Definition
A statement reporting whether a variant is associated with a disease (a diagnostic inclusion criterion), or absence of a disease (diagnostic exclusion criterion).
Information Model
This profile applies the following constraints on top of the core Statement class definition:
Field |
Flags |
Type |
Limits |
Description |
|---|---|---|---|---|
proposition |
1..1 |
A proposition about a diagnostic association between a variant and condition. The validity of this proposition, and the level of confidence/evidence supporting it, may be assessed and reported by the Statement. |
||
strength |
Mappable Concept (nested enum: Level A | Level B | Level C | Level D) |
0..1 |
A term used to report the strength of a Proposition’s assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
|
classification |
Mappable Concept (nested enum: Level A | Level B | Level C | Level D) |
0..1 |
A single term or phrase summarizing the outcome of direction and strength assessments of a Statement’s Proposition, in terms of a classification of its subject. The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
Artifacts
Variant Prognostic Statement (AAC 2017)
Warning
This data class is at a draft maturity level and may change significantly in future releases. Maturity levels are described in the maturity-model.
Computational Definition
A statement reporting whether a variant is associated with a disease prognosis.
Information Model
This profile applies the following constraints on top of the core Statement class definition:
Field |
Flags |
Type |
Limits |
Description |
|---|---|---|---|---|
proposition |
1..1 |
A proposition about a prognostic association between a variant and condition. The validity of this proposition, and the level of confidence/evidence supporting it, may be assessed and reported by the Statement. |
||
strength |
Mappable Concept (nested enum: Level A | Level B | Level C | Level D) |
0..1 |
A term used to report the strength of a Proposition’s assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
|
classification |
Mappable Concept (nested enum: Level A | Level B | Level C | Level D) |
0..1 |
A single term or phrase summarizing the outcome of direction and strength assessments of a Statement’s Proposition, in terms of a classification of its subject. The indicated enumeration is bound to the ‘code’ field in the Coding object nested inside the MappableConcept. |
Artifacts