{
  "url": "https://dantelabs.com/genes/trdn/variants/e178kfs45",
  "gene": {
    "slug": "trdn",
    "symbol": "TRDN",
    "hgnc": "HGNC:12261",
    "url": "https://dantelabs.com/genes/trdn"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "trdn",
      "symbol": "TRDN",
      "hgnc": "HGNC:12261"
    },
    "slug": "e178kfs45",
    "name": "E178Kfs*45",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-19-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-19"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_006073.4(TRDN):c.531del (p.Glu178fs)",
    "description": null,
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "glu178lysfster45",
      "c-531del",
      "rs1432170970",
      "ca818346645"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA818346645",
      "rsIds": [
        "rs1432170970"
      ],
      "clinvarVariationId": 1075032,
      "vcv": "VCV001075032",
      "clinvarAlleleId": 1060570
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "6",
        "pos": 123516159,
        "ref": "CT",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "6",
        "pos": 123837304,
        "ref": "CT",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_006073.4",
      "maneSelect": true,
      "hgvsC": "c.531del",
      "hgvsP": "p.Glu178LysfsTer45",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "pathogenic",
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "consequence": "frameshift_variant"
        },
        {
          "code": "PM2",
          "strength": "supporting",
          "population": {
            "datasets": [
              "gnomad-exomes"
            ],
            "frequency": 3.199999980552093e-7
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000002240414387045028,
          "alleleCount": 3,
          "alleleNumber": 1339038,
          "homozygotes": 0,
          "groupMax": {
            "group": "afr",
            "frequency": 0.000033299998904112726
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 3.199999980552093e-7
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00000658180525754604,
          "alleleCount": 1,
          "alleleNumber": 151934,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.000014719300452270545
          },
          "filteringMax": {
            "group": "afr",
            "frequency": 0
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0011484",
        "name": "catecholaminergic polymorphic ventricular tachycardia 1",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV001075032",
        "submissions": 2,
        "lastEvaluated": "2024-02-21"
      }
    ],
    "reports": [
      {
        "slug": "arrhythmogenic-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0016587",
            "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)"
          }
        ]
      },
      {
        "slug": "catecholaminergic-polymorphic-ventricular-tachycardia",
        "diseases": [
          {
            "mondoId": "MONDO:0008648",
            "name": "Ventricular Tachycardia, Familial"
          },
          {
            "mondoId": "MONDO:0020575",
            "name": "Polymorphic Ventricular Tachycardia"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "arrhythmogenic-cardiomyopathy",
      "name": "Arrhythmogenic Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0016587",
          "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/arrhythmogenic-cardiomyopathy"
    },
    {
      "slug": "catecholaminergic-polymorphic-ventricular-tachycardia",
      "name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
      "diseases": [
        {
          "mondoId": "MONDO:0008648",
          "name": "Ventricular Tachycardia, Familial",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0020575",
          "name": "Polymorphic Ventricular Tachycardia",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/catecholaminergic-polymorphic-ventricular-tachycardia"
    }
  ]
}