{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/74809671-f253-470e-9e9f-c4ecdbf0029f/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007113",
      "id": "MONDO:0007113",
      "label": "Angelman syndrome",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/ei/1/1703",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/23",
                  "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/CA243572/MONDO:0007113/037/el/0/1702/1704",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "contribution": [
                      {
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The p.Phe426= variant in UBE3A (NM_130838.2) is observed in at least 4 unaffected individuals (gnomAD) (BS2).",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "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": "CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1702",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/ei/1/1805",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/23",
                  "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/CA243572/MONDO:0007113/037/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The allele frequency of the p.Phe426= variant in UBE3A (NM_130838.2) is 0.014% in European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). ",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "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": "CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/23",
                  "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/0079",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0079",
              "label": "BP7",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243572/MONDO:0007113/037/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The p.Phe426= variant in UBE3A (NM_130838.2) is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "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": "CA243572/MONDO:0007113/037/ci/CA243572/MONDO:0007113/037.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037/0/1654",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA243572/MONDO:0007113/037",
    "metadata": {
      "created": "2024-09-28T01:07:44.357Z",
      "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 01:07:44 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "74809671-f253-470e-9e9f-c4ecdbf0029f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA243572",
      "id": "CAR:CA243572",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_130839.5:c.1338T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T23:16:58.226Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}