{ "@context": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139", "id": "CG-AC:AC139", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "28077", "producedAtUTC": "Thu, 10 Sep 2026 19:39:19 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/co", "id": "CG-AC:AC139/co", "type": "GeneticCondition", "label": "Tumor Predisposition Syndrome" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ou/Malignant%20Mesothelioma", "id": "CG-AC:AC139/ou/Malignant Mesothelioma", "type": "Outcome", "label": "Malignant Mesothelioma" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ou/Melanoma", "id": "CG-AC:AC139/ou/Melanoma", "type": "Outcome", "label": "Melanoma" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ou/Uveal%20Melanoma", "id": "CG-AC:AC139/ou/Uveal Melanoma", "type": "Outcome", "label": "Uveal Melanoma" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ou/Clear%20Cell%20Renal%20Cell%20Carcinoma", "id": "CG-AC:AC139/ou/Clear Cell Renal Cell Carcinoma", "type": "Outcome", "label": "Clear Cell Renal Cell Carcinoma" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/intv/Imaging", "id": "CG-AC:AC139/intv/Imaging", "type": "Intervention", "label": "Imaging" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/intv/Annual%20full-body%20dermatology%20exam", "id": "CG-AC:AC139/intv/Annual full-body dermatology exam", "type": "Intervention", "label": "Annual full-body dermatology exam" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/intv/Annual%20eye%20exam%2C%20including%20dilated%20eye%20exam%2C%20by%20ocular%20oncologist", "id": "CG-AC:AC139/intv/Annual eye exam, including dilated eye exam, by ocular oncologist", "type": "Intervention", "label": "Annual eye exam, including dilated eye exam, by ocular oncologist" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/intv/Abdominal%20Ultrasound", "id": "CG-AC:AC139/intv/Abdominal Ultrasound", "type": "Intervention", "label": "Abdominal Ultrasound" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/cap", "id": "CG-AC:AC139/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Wed, 09 Feb 2022 00:00:00 -0000", "releaseNum": "1.2.2", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/en/cf", "id": "CG-AC:AC139/en/cf", "type": "EvidenceNarrative", "narrative": "BAP1-TPDS is characterized by heterozygous pathogenic variants in the BAP1 gene, resulting in haploinsufficiency of the putative tumor suppressor protein BAP1. Tumors develop from cell types in which loss of heterozygosity occurs. Atypical Spitz tumors (ASTs), a specific type of skin lesion, may be the most common manifestation of BAP1-TPDS. These lesions are skin-colored to reddish brown, average 5 mm in diameter, and are histologically between those of a Spitz nevus and melanoma. In addition to ASTs, patients are at increased risk for certain malignancies. Individuals with pathogenic BAP1 mutations are prone to develop uveal melanoma, malignant mesothelioma, cutaneous melanoma, clear cell renal cell carcinoma (ccRCC), and basal cell carcinoma. Affected individuals can have more than one type of primary cancer. Other cancers with some, but inconsistent, evidence for their inclusion in the spectrum of BAP1-TPDS malignancies are breast cancer, cholangiocarcinoma, meningioma, neuroendocrine tumors, non-small cell lung adenocarcinoma, and thyroid cancer.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639", "CG-AC:RF000642", "CG-AC:RF000643", "CG-AC:RF000644" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/en/nh", "id": "CG-AC:AC139/en/nh", "type": "EvidenceNarrative", "narrative": "Patients are reported to develop ASTs as early as the second decade of life, and for some patients these may be the first presenting symptom. However, patients have been found to have a low number of melanomas compared to the number of atypical Spitz tumors, suggesting the risk of malignant progression in individual tumors is low. Almost all malignancies associated with BAP1-TPDS have an earlier onset than in the general population and a worse prognosis. Uveal melanoma in BAP1-TPDS has an earlier age of onset compared with the general population (51 years vs 62 years) and are typically more aggressive with a poorer prognosis (average survival of 4.74 years versus 9.97 years for persons with tumors expressing BAP1). Malignant mesothelioma occurs significantly earlier than that of sporadic malignant mesothelioma (55-58 years vs 68-72 years), with higher rates of peritoneal involvement and the majority of peritoneal cases occurring in women. In contrast to other BAP1-TPDS cancers, survival in persons with BAP1-related malignant mesothelioma may be longer than in sporadic cases, although data are not consistent. Growing evidence suggests that asbestos exposure increases the risk for mesothelioma in patients with pathogenic variants in BAP1. Cutaneous melanoma often occurs with multiple primary melanomas and has an earlier onset (46 years vs 58 years). The data regarding aggressiveness of BAP1-associated cutaneous melanoma relative to sporadic instances is inconsistent. Median age of ccRCC diagnosis is earlier than that of sporadic ccRCC (47 vs 64 years), and length of survival is also decreased with individuals generally having a higher grade of cancer at diagnosis. Based on limited data basal cell carcinoma appears to have a median age of onset at 50 years.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639", "CG-AC:RF000641", "CG-AC:RF000642", "CG-AC:RF000644" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/en/potgd", "id": "CG-AC:AC139/en/potgd", "type": "EvidenceNarrative", "narrative": "The population prevalence of BAP1 tumor predisposition syndrome (BAP1-TPDS) is unknown, though estimated to be rare. A 2015 review identified 57 published families with 174 individuals with BAP-TPDS. The prevalence of germline mutations in individuals with BAP1 associated cancers include: uveal melanoma (1-3%), malignant mesothelioma (6%), and cutaneous melanoma (0.6%). The prevalence of BAP1-TPDS in persons with other cancers is unknown.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639", "CG-AC:RF000640", "CG-AC:RF000641" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/en/ACMI2687", "id": "CG-AC:AC139/en/ACMI2687", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance" } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/NOI2847", "id": "CG-AC:AC139/ten/NOI2847", "type": "TieredEvidenceNarrative", "narrative": "Most recommended interventions are non-invasive surveillance and thorough initial work-up and have little associated risks. If a spiral chest CT is performed to examine the patient for mesothelioma, the test carries some risk of cancer development from the radiation exposure itself.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/CDEC2837", "id": "CG-AC:AC139/ten/CDEC2837", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Cancers associated with this condition are earlier onset and typically more aggressive than those in the general population. Because there are no standard recommendations for screenings related to these types of cancer, there is a high chance for them to escape clinical detection in the setting of recommended care. Both cutaneous melanomas and uveal melanomas can be cured when found at an early stage but are fatal upon metastasis.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF000639", "CG-AC:RF000644" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/EN2847", "id": "CG-AC:AC139/ten/EN2847", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "The type of BAP1-related tumors can vary among different members of the same family.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/RR2625", "id": "CG-AC:AC139/ten/RR2625", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "No data were found regarding the relative risk of manifestations of BAP1-TPDS.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/PGM2798", "id": "CG-AC:AC139/ten/PGM2798", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "No data were found on the population prevalence of pathogenic germline mutations in BAP1.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/ten/ACPE4086", "id": "CG-AC:AC139/ten/ACPE4086", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "A review of family reports from the literature found that overall 148 of 174 individuals (85%) with BAP1-TPDS had a malignant manifestation \\n - Uveal melanoma: 54/174 (31%)\\n - Malignant mesothelioma: 39/174 (22%) \\n - Cutaneous melanoma: 23/174 (13%)\\n - Renal cell carcinoma: 18/174 (10%)\\n - Cutaneous melanocytic lesions (ASTs): 31/43 (72%)\\n\\nPotentially associated cancers:\\n - Breast cancer: 9/95 (9.5%)\\n - Basal cell carcinoma: 11/174 (6.3%)\\n\\nIt is likely, however, that these penetrance data are inflated by test bias since the patients and family members who get tested are generally those affected by cancer. Of the 57 reported families, only the affected proband was tested in 30, and only 17 families had more than 3 individuals tested. Thus, the true penetrance for BAP1 mutations may well be lower than currently estimated.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/REC2166", "id": "CG-AC:AC139/tr/REC2166", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "Because tumor size and stage are correlated with prognosis and risk of metastasis in average-risk populations, it is suggestive that early diagnosis and treatment may improve outcomes.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000645", "CG-AC:RF000646", "CG-AC:RF000647" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACPM5595", "id": "CG-AC:AC139/tr/ACPM5595", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Following diagnosis, the patient should be thoroughly evaluated for ASTs, cutaneous melanoma, and/or basal cell carcinoma, uveal melanoma, malignant mesothelioma, and clear cell renal cell carcinoma. Initial workup for cutaneous disease should include full body skin examination by a dermatologist with excision of any lesions suggestive of an AST. Initial examination for uveal melanoma should include a dilated eye examination and imaging by an ocular oncologist. For ccRCC, an abdominal ultrasound exam, urinalysis, and abdominal MRI are recommended. It is recommended that MRI evaluation of the peritoneum and pleura be considered to evaluate for malignant mesothelioma. The use of spiral chest CT is controversial due to the risk of cancer from radiation exposure.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACCA3377", "id": "CG-AC:AC139/tr/ACCA3377", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals should avoid unnecessary and prolonged sun exposure and utilize sun protection (sunscreen and protective clothing) due to an increased risk of melanoma and basal cell carcinoma. The use of sunglasses with high UVA and UVB protection may help reduce the risk of cancer on the eye lids, but data regarding the benefits of sunglasses for uveal melanoma are lacking.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACCA3375", "id": "CG-AC:AC139/tr/ACCA3375", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Because of the increased risk for malignant mesothelioma, individuals should avoid smoking and asbestos exposure.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACCA3376", "id": "CG-AC:AC139/tr/ACCA3376", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Arc welding has been associated with risk of uveal melanoma and should be avoided if possible.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3664", "id": "CG-AC:AC139/tr/ACSU3664", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Annual abdominal ultrasound examination is recommended along with consideration of annual urinalysis and abdominal MRI every two years for the detection of ccRCC. ccRCC in BAP1-TPDS should be managed according to standard practice.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3663", "id": "CG-AC:AC139/tr/ACSU3663", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "No reliable early disease symptoms or screening modalities for malignant mesothelioma exist. However, annual evaluation is recommended for the detection of late manifestations of mesothelioma (e.g., chest pain, cough, shortness of breath), signs of pleurisy (pleural inflammation), peritonitis, ascites, and/or pleural effusion. If abdominal MRI is being performed to evaluate for ccRCC, evaluation of peritoneum and pleura can be considered. Recommendation for spiral chest CT is controversial due to the risk of cancer from radiation exposure. In general, malignant mesothelioma is highly refractory to conventional therapies including surgical intervention and multimodal strategies; thus a cure is unlikely.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3665", "id": "CG-AC:AC139/tr/ACSU3665", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "No data exist regarding the effectiveness of melanoma surveillance in this population. A systematic review addressing visual screening for skin cancer identified no trials addressing the effectiveness of skin cancer screening on morbidity and mortality in average-risk individuals. One ecological study found that after the implementation of a population based skin cancer screening program the population age- and sex-adjusted melanoma mortality decreased by 48% with an absolute mortality difference of 0.8 melanoma deaths per 100,000 persons. Eight observational studies examined the association between lesion thickness or stage at diagnosis and mortality. All studies demonstrated a consistent linear increase in the risk of melanoma mortality with increasing tumor thickness. Tumor thickness >4.0mm was associated with a hazard ratio of 3.1-32.6 in multivariate models, indicating increased risk of melanoma mortality compared with thinner lesions.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000383" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3660", "id": "CG-AC:AC139/tr/ACSU3660", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals should undergo an annual full-body dermatology exam beginning around age 20 years. In addition, patients should perform skin self-exam following the characteristics of melanoma.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3661", "id": "CG-AC:AC139/tr/ACSU3661", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "No data exist regarding the effectiveness of uveal melanoma surveillance or treatment in this population. Surveillance for uveal melanoma may allow detection at an earlier stage. Uveal melanomas in BAP1-TPDS are aggressive and should be managed according to standard practice for more aggressive tumors, even when detected at an earlier stage.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/tr/ACSU3662", "id": "CG-AC:AC139/tr/ACSU3662", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Yearly dilated eye examinations and imaging by an ocular oncologist are recommended for the detection of uveal melanoma. In the case of a uveal melanoma diagnosis, consider high-risk patient monitoring protocol for systemic metastatic surveillance (e.g., liver-directed imaging every 3-6 months, pulmonary imaging every 6-12 months)", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000638", "CG-AC:RF000639" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei", "id": "CG-AC:AC139/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/nott", "id": "CG-AC:AC139/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/pgd", "id": "CG-AC:AC139/oei/pgd", "type": "EvidenceItem", "keyText": "< 1-2 in 100000", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC139/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/cf", "id": "CG-AC:AC139/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC139/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/nh", "id": "CG-AC:AC139/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC139/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/tmc", "id": "CG-AC:AC139/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/moi", "id": "CG-AC:AC139/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC139/en/ACMI2687" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/pgm", "id": "CG-AC:AC139/oei/pgm", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "General population", "tieredEvidenceNarrative": { "@id": "CG-AC:AC139/ten/PGM2798" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/pe/ACPE4086", "id": "CG-AC:AC139/oei/pe/ACPE4086", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC139/ten/ACPE4086" } } ], "relativeRisk": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/rr/RR2625", "id": "CG-AC:AC139/oei/rr/RR2625", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC139/ten/RR2625" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/oei/ex/EN2847", "id": "CG-AC:AC139/oei/ex/EN2847", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC139/ten/EN2847" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei", "id": "CG-AC:AC139/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/aoi", "id": "CG-AC:AC139/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/noi/NOI2847", "id": "CG-AC:AC139/iei/noi/NOI2847", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC139/ten/NOI2847" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/eoi", "id": "CG-AC:AC139/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/pm/ACPM5595", "id": "CG-AC:AC139/iei/pm/ACPM5595", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC139/tr/ACPM5595" } } ], "circumstanceToAvoid": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/cta/ACCA3376", "id": "CG-AC:AC139/iei/cta/ACCA3376", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC139/tr/ACCA3376" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/cta/ACCA3375", "id": "CG-AC:AC139/iei/cta/ACCA3375", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC139/tr/ACCA3375" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/cta/ACCA3377", "id": "CG-AC:AC139/iei/cta/ACCA3377", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC139/tr/ACCA3377" } } ], "surveillance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139/iei/su/ACSU3662", "id": "CG-AC:AC139/iei/su/ACSU3662", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC139/tr/ACSU3662" } }, { "@id": 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