{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/f086a53b-4033-4d0b-8cc9-b5f0fd9cbc34/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243094", "label": "ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.2.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100216", "id": "MONDO:0100216", "label": "DICER1-related tumor predisposition", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0070", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0070", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0072", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0072", "label": "BS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1697", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0045", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0045", "label": "PS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1696/1698", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "In vitro cleavage assays performed in different cell lines have demonstrated that this variant fails to produce 5p microRNAs from a pre-miRNA, indicating that this variant impacts protein function (PS3_Supporting; 22187960, 23132766, 28862265).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1696/1698", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1697", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1696", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/006", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "006", "label": "PM1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "This variant resides in the p.E1705 metal ion-binding residue located in the RNase IIIb domain of DICER1, that is defined as a mutational hotspot and critical functional domain by the ClinGen DICER1 VCEP (PM1; PMID: 31342592).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/008", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "008", "label": "PM5", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "Two different missense variants, c.5115A>C (p.Glu1705Asp), and c.5113G>C (p.Glu1705Gln), in the same codon have been reported (ClinVar Variation IDs: 932990, 932988). However, these variants have not yet met the criteria to be classified as pathogenic by the ClinGen DICER VCEP and this rule cannot be applied in combination with PM1 (PM5 not met).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0062", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0062", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "In silico tools predict damaging impact of the variant on protein function (REVEL: 0.925) (PP3).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0063", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0063", "label": "PP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1703", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0069", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0069", "label": "BS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0030", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0030", "label": "PM2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "This variant is absent from gnomAD v2.1.1 and v3.1.2 (non-cancer) (PM2_Supporting).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0032", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0032", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "This variant has been identified as a de novo occurrence with constitutional mosaicism in one individual with pleuropulmonary blastoma type I and cystic nephroma (PS4_supporting; 26925222). The following PMIDs were reviewed and this variant was described as a somatic finding; these PMIDs did not contribute evidence for this classification: 33135284; 33848213; 33922805; 33567437; 32629665; 31900434; 30260442; 30446821; 30266945; 29395683; 29753010; 28766837; 28323992; 27697588; 26983701; 26841698; 26428316; 24617712; 36121434; 37215607; 35986592; 31487013; 31487013; 29881993; 28654427; 27664536; 28825729; 29037807; 26033501; 27459524; 26033159; 24481001; 24909177; 24136150.", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1606/1608", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1607", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1606", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0080", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0080", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0051", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0051", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390865421/MONDO:0100216/024/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "This variant has been identified as a de novo occurrence with constitutional mosaicism in one individual with pleuropulmonary blastoma type I and cystic nephroma (PS2_moderate; 26925222).", "contributionDate": { "date": "2024/1/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA390865421/MONDO:0100216/024/ci/CA390865421/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024/0/1663", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA390865421/MONDO:0100216/024", "metadata": { "created": "2024-09-28T03:44:01.936Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Sat, 28 Sep 2024 03:44:01 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "f086a53b-4033-4d0b-8cc9-b5f0fd9cbc34", "variant": { "@id": "https://reg.genome.network/allele/CA390865421", "id": "CAR:CA390865421", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_177438.3:c.5113G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_177438.3(DICER1):c.5113G>A (p.Glu1705Lys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-30T07:14:53.891Z" } }, "status": { "code": 200, "name": "OK" } }