{
  "url": "https://dantelabs.com/genes/des/variants/s12f",
  "gene": {
    "slug": "des",
    "symbol": "DES",
    "hgnc": "HGNC:2770",
    "url": "https://dantelabs.com/genes/des"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "des",
      "symbol": "DES",
      "hgnc": "HGNC:2770"
    },
    "slug": "s12f",
    "name": "S12F",
    "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_001927.4(DES):c.35C>T (p.Ser12Phe)",
    "description": null,
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "ser12phe",
      "c-35c-t",
      "rs267607495",
      "ca217069"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA217069",
      "rsIds": [
        "rs267607495"
      ],
      "clinvarVariationId": 66412,
      "vcv": "VCV000066412",
      "clinvarAlleleId": 77309
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "2",
        "pos": 219418497,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "2",
        "pos": 220283219,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_001927.4",
      "maneSelect": true,
      "hgvsC": "c.35C>T",
      "hgvsP": "p.Ser12Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.0000013794149901026975,
          "alleleCount": 2,
          "alleleNumber": 1449890,
          "homozygotes": 0,
          "filteringMax": {
            "group": "afr",
            "frequency": 0
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0011076",
        "name": "myofibrillar myopathy 1",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000066412",
        "submissions": 2,
        "lastEvaluated": "2026-01-25"
      }
    ],
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilated Cardiomyopathy"
          }
        ]
      },
      {
        "slug": "myofibrillar-myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0018943",
            "name": "Myofibrillar myopathy"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "dilated-cardiomyopathy",
      "name": "Dilated Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0005021",
          "name": "Dilated Cardiomyopathy",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/dilated-cardiomyopathy"
    },
    {
      "slug": "myofibrillar-myopathies",
      "name": "Myofibrillar Myopathies",
      "diseases": [
        {
          "mondoId": "MONDO:0018943",
          "name": "Myofibrillar myopathy",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/myofibrillar-myopathies"
    }
  ]
}