{
  "url": "https://dantelabs.com/genes/des/variants/e245d",
  "gene": {
    "slug": "des",
    "symbol": "DES",
    "hgnc": "HGNC:2770",
    "url": "https://dantelabs.com/genes/des"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "des",
      "symbol": "DES",
      "hgnc": "HGNC:2770"
    },
    "slug": "e245d",
    "name": "E245D",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_001927.4(DES):c.735G>C (p.Glu245Asp)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "glu245asp",
      "c-735g-c",
      "rs267607486",
      "ca217085"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA217085",
      "rsIds": [
        "rs267607486"
      ],
      "clinvarVariationId": 66420,
      "vcv": "VCV000066420",
      "clinvarAlleleId": 77317
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "2",
        "pos": 219420346,
        "ref": "G",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "2",
        "pos": 220285068,
        "ref": "G",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_001927.4",
      "maneSelect": true,
      "hgvsC": "c.735G>C",
      "hgvsP": "p.Glu245Asp",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0011482",
        "name": "dilated cardiomyopathy 1I",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000066420",
        "submissions": 3,
        "lastEvaluated": "2024-08-26"
      }
    ],
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilated Cardiomyopathy"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "dilated-cardiomyopathy",
      "name": "Dilated Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0005021",
          "name": "Dilated Cardiomyopathy",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/dilated-cardiomyopathy"
    }
  ]
}