{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/33f51f86-e0ab-4a00-8188-2d14ba73a404/doc/sepio/version/1.1.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528338151",
      "label": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015967",
      "id": "MONDO:0015967",
      "label": "monogenic diabetes",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in at least 7 unrelated individuals with non- autoimmune and non-absolute/near-absolute insulin-deficient diabetes; however, PS4 cannot be applied because the variant MAF in gnomAD is above the ClinGen MDEP PM2_Supporting cutoff (ClinVar Variation ID: 1411449, internal lab contributors).",
                        "contributionDate": {
                          "date": "2025/6/9",
                          "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": "CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/ei/1/1805",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00009487, which is greater the MDEP threshold for BS1 (greater than or equal to 0.000033) (BS1). ",
                        "contributionDate": {
                          "date": "2025/6/9",
                          "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": "CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1579",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/ei/1/1580",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1579/1581",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in a patient with an alternate molecular basis for disease (BP5; internal lab contributor). ",
                        "contributionDate": {
                          "date": "2025/6/9",
                          "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": "CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1579/1581",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/1/1580",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1579",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in multiple individuals with antibody-negative diabetes; however, the calculated MODY probability is <50% (internal lab contributors).",
                        "contributionDate": {
                          "date": "2025/6/9",
                          "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": "CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9870497/MONDO:0015967/085/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant is predicted to be benign by computational evidence, with a REVEL score of 0.06199, which is less than the MDEP threshold of 0.15 (BP4). ",
                        "contributionDate": {
                          "date": "2025/6/9",
                          "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": "CA9870497/MONDO:0015967/085/ci/CA9870497/MONDO:0015967/085.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA9870497/MONDO:0015967/085",
    "metadata": {
      "created": "2025-06-09T17:06:26.061Z",
      "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": "Mon, 09 Jun 2025 17:06:25 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26334-5",
      "id": "LN:LA26334-5",
      "label": "Likely Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "33f51f86-e0ab-4a00-8188-2d14ba73a404",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA9870497",
      "id": "CAR:CA9870497",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_175914.5:c.1199G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-08T19:07:46.209Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}