{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/69e8c03b-45bb-450e-9a31-e5f2bc4bc746/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527859052",
      "label": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010604",
      "id": "MONDO:0010604",
      "label": "hemophilia B",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/4/4",
                  "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/CA10529866/MONDO:0010604/080/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.291, which is below the threshold (<= 0.3)  and the splice site predictor Splice AI indicated that the variant has no impact on splicing (score = 0,0,0,0), evidence that does not predict a damaging effect on F9 function (BP4).",
                        "contributionDate": {
                          "date": "2025/4/4",
                          "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": "CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/4/4",
                  "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/CA10529866/MONDO:0010604/080/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v2.1.1 is 0.0006494 (9/13858 alleles) in the East Asian population, which is higher than the ClinGen Coagulation Factor Deficiency VCEP threshold (>=0.0000556) for BA1, and therefore meets this criterion (BA1). The highest MAF in gnomAD v4.1.0 is 0.0008 (27/33749) in the East Asian population.",
                        "contributionDate": {
                          "date": "2025/4/4",
                          "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": "CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1777",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10529866/MONDO:0010604/080/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/4/4",
                  "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/CA10529866/MONDO:0010604/080/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in 1 proband meeting phenotypic criteria for mild Hemophilia B. However, PS4_Supporting cannot be applied because more than 3 males in gnomAD v2.1.1 are reported with this variant, as per CFD VCEP specifications (PMID: 23492913).",
                        "contributionDate": {
                          "date": "2025/4/4",
                          "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": "CA10529866/MONDO:0010604/080/ci/CA10529866/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10529866/MONDO:0010604/080",
    "metadata": {
      "created": "2025-04-04T16:26:25.998Z",
      "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": "Fri, 04 Apr 2025 16:26:25 -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": "69e8c03b-45bb-450e-9a31-e5f2bc4bc746",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10529866",
      "id": "CAR:CA10529866",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000133.4:c.1048T>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000133.4(F9):c.1048T>G (p.Ser350Ala)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T03:21:19.284Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}