{
  "url": "https://dantelabs.com/genes/tsc2/variants/v1069dfs98",
  "gene": {
    "slug": "tsc2",
    "symbol": "TSC2",
    "hgnc": "HGNC:12363",
    "url": "https://dantelabs.com/genes/tsc2"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "tsc2",
      "symbol": "TSC2",
      "hgnc": "HGNC:12363"
    },
    "slug": "v1069dfs98",
    "name": "V1069Dfs*98",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-17-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-17"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "val1069aspfster98",
      "c-3206to3207del",
      "rs137854076",
      "ca018681"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA018681",
      "rsIds": [
        "rs137854076"
      ],
      "clinvarVariationId": 49246,
      "vcv": "VCV000049246",
      "clinvarAlleleId": 58408
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "16",
        "pos": 2079347,
        "ref": "CTG",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "16",
        "pos": 2129348,
        "ref": "CTG",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000548.5",
      "maneSelect": true,
      "hgvsC": "c.3206_3207del",
      "hgvsP": "p.Val1069AspfsTer98",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "consequence": "frameshift_variant"
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0013199",
        "name": "tuberous sclerosis 2",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000049246",
        "submissions": 4,
        "lastEvaluated": "2024-11-25"
      }
    ],
    "reports": [
      {
        "slug": "tuberous-sclerosis",
        "diseases": [
          {
            "mondoId": "MONDO:0001734",
            "name": "Tuberous Sclerosis",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "tuberous-sclerosis",
      "name": "Tuberous Sclerosis",
      "diseases": [
        {
          "mondoId": "MONDO:0001734",
          "name": "Tuberous Sclerosis",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/tuberous-sclerosis"
    }
  ]
}