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115 changes: 105 additions & 10 deletions tests/fixtures/civic-assertion-oncogenicity.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -69,7 +69,7 @@ specifiedBy:
hasEvidenceLines:
- type: EvidenceLine
directionOfEvidenceProvided: supports
targetProposition: # identical to VariantOncogenicityStatement.proposition
targetProposition: # identical to VariantOncogenicityStatement.proposition
type: VariantOncogenicityProposition
objectTumorType:
id: civic.did:15
Expand All @@ -84,7 +84,8 @@ hasEvidenceLines:
subjectVariant:
id: civic.mpid:113
type: CategoricalVariant
description: RET M918T is the most common somatically acquired mutation in
description:
RET M918T is the most common somatically acquired mutation in
medullary thyroid cancer (MTC). While there currently are no RET-specific
inhibiting agents, promiscuous kinase inhibitors have seen some success in
treating RET overactivity. Data suggests however, that the M918T mutation
Expand Down Expand Up @@ -121,9 +122,27 @@ hasEvidenceLines:
code: OM1
system: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
scoreOfEvidenceProvided: 2
specifiedBy:
type: Method
methodType: functional_domain_location
name: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
reportedIn:
doi: 10.1016/j.gim.2022.01.001
id: pmid:35101336
name: Horak et al., 2022, Genet Med.
pmid: "35101336"
title:
"Standards for the classification of pathogenicity of somatic variants in
cancer (oncogenicity): Joint recommendations of Clinical Genome
Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant
Interpretation for Cancer Consortium (VICC)"
type: Document
urls:
- https://doi.org/10.1016/j.gim.2022.01.001
- https://pubmed.ncbi.nlm.nih.gov/35101336/
- type: EvidenceLine
directionOfEvidenceProvided: supports
targetProposition: # identical to VariantOncogenicityStatement.proposition
targetProposition: # identical to VariantOncogenicityStatement.proposition
type: VariantOncogenicityProposition
objectTumorType:
id: civic.did:15
Expand All @@ -138,7 +157,8 @@ hasEvidenceLines:
subjectVariant:
id: civic.mpid:113
type: CategoricalVariant
description: RET M918T is the most common somatically acquired mutation in
description:
RET M918T is the most common somatically acquired mutation in
medullary thyroid cancer (MTC). While there currently are no RET-specific
inhibiting agents, promiscuous kinase inhibitors have seen some success in
treating RET overactivity. Data suggests however, that the M918T mutation
Expand Down Expand Up @@ -175,9 +195,27 @@ hasEvidenceLines:
code: OS2
system: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
scoreOfEvidenceProvided: 4
specifiedBy:
type: Method
methodType: functional_assay
name: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
reportedIn:
doi: 10.1016/j.gim.2022.01.001
id: pmid:35101336
name: Horak et al., 2022, Genet Med.
pmid: "35101336"
title:
"Standards for the classification of pathogenicity of somatic variants in
cancer (oncogenicity): Joint recommendations of Clinical Genome
Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant
Interpretation for Cancer Consortium (VICC)"
type: Document
urls:
- https://doi.org/10.1016/j.gim.2022.01.001
- https://pubmed.ncbi.nlm.nih.gov/35101336/
- type: EvidenceLine
directionOfEvidenceProvided: supports
targetProposition: # identical to VariantOncogenicityStatement.proposition
targetProposition: # identical to VariantOncogenicityStatement.proposition
type: VariantOncogenicityProposition
objectTumorType:
id: civic.did:15
Expand All @@ -192,7 +230,8 @@ hasEvidenceLines:
subjectVariant:
id: civic.mpid:113
type: CategoricalVariant
description: RET M918T is the most common somatically acquired mutation in
description:
RET M918T is the most common somatically acquired mutation in
medullary thyroid cancer (MTC). While there currently are no RET-specific
inhibiting agents, promiscuous kinase inhibitors have seen some success in
treating RET overactivity. Data suggests however, that the M918T mutation
Expand Down Expand Up @@ -229,9 +268,27 @@ hasEvidenceLines:
code: OP4
system: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
scoreOfEvidenceProvided: 1
specifiedBy:
type: Method
methodType: population_frequency
name: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
reportedIn:
doi: 10.1016/j.gim.2022.01.001
id: pmid:35101336
name: Horak et al., 2022, Genet Med.
pmid: "35101336"
title:
"Standards for the classification of pathogenicity of somatic variants in
cancer (oncogenicity): Joint recommendations of Clinical Genome
Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant
Interpretation for Cancer Consortium (VICC)"
type: Document
urls:
- https://doi.org/10.1016/j.gim.2022.01.001
- https://pubmed.ncbi.nlm.nih.gov/35101336/
- type: EvidenceLine
directionOfEvidenceProvided: supports
targetProposition: # identical to VariantOncogenicityStatement.proposition
targetProposition: # identical to VariantOncogenicityStatement.proposition
type: VariantOncogenicityProposition
objectTumorType:
id: civic.did:15
Expand All @@ -246,7 +303,8 @@ hasEvidenceLines:
subjectVariant:
id: civic.mpid:113
type: CategoricalVariant
description: RET M918T is the most common somatically acquired mutation in
description:
RET M918T is the most common somatically acquired mutation in
medullary thyroid cancer (MTC). While there currently are no RET-specific
inhibiting agents, promiscuous kinase inhibitors have seen some success in
treating RET overactivity. Data suggests however, that the M918T mutation
Expand Down Expand Up @@ -283,9 +341,27 @@ hasEvidenceLines:
code: OP1
system: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
scoreOfEvidenceProvided: 1
specifiedBy:
type: Method
methodType: computational_prediction
name: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
reportedIn:
doi: 10.1016/j.gim.2022.01.001
id: pmid:35101336
name: Horak et al., 2022, Genet Med.
pmid: "35101336"
title:
"Standards for the classification of pathogenicity of somatic variants in
cancer (oncogenicity): Joint recommendations of Clinical Genome
Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant
Interpretation for Cancer Consortium (VICC)"
type: Document
urls:
- https://doi.org/10.1016/j.gim.2022.01.001
- https://pubmed.ncbi.nlm.nih.gov/35101336/
- type: EvidenceLine
directionOfEvidenceProvided: supports
targetProposition: # identical to VariantOncogenicityStatement.proposition
targetProposition: # identical to VariantOncogenicityStatement.proposition
type: VariantOncogenicityProposition
objectTumorType:
id: civic.did:15
Expand All @@ -300,7 +376,8 @@ hasEvidenceLines:
subjectVariant:
id: civic.mpid:113
type: CategoricalVariant
description: RET M918T is the most common somatically acquired mutation in
description:
RET M918T is the most common somatically acquired mutation in
medullary thyroid cancer (MTC). While there currently are no RET-specific
inhibiting agents, promiscuous kinase inhibitors have seen some success in
treating RET overactivity. Data suggests however, that the M918T mutation
Expand Down Expand Up @@ -337,3 +414,21 @@ hasEvidenceLines:
code: OP3
system: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
scoreOfEvidenceProvided: 1
specifiedBy:
type: Method
methodType: somatic_hotspot_recurrence
name: ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022
reportedIn:
doi: 10.1016/j.gim.2022.01.001
id: pmid:35101336
name: Horak et al., 2022, Genet Med.
pmid: "35101336"
title:
"Standards for the classification of pathogenicity of somatic variants in
cancer (oncogenicity): Joint recommendations of Clinical Genome
Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant
Interpretation for Cancer Consortium (VICC)"
type: Document
urls:
- https://doi.org/10.1016/j.gim.2022.01.001
- https://pubmed.ncbi.nlm.nih.gov/35101336/
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