{
  "url": "https://dantelabs.com/genes/tp53/variants/c238f",
  "gene": {
    "slug": "tp53",
    "symbol": "TP53",
    "hgnc": "HGNC:11998",
    "url": "https://dantelabs.com/genes/tp53"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "tp53",
      "symbol": "TP53",
      "hgnc": "HGNC:11998"
    },
    "slug": "c238f",
    "name": "C238F",
    "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_000546.6(TP53):c.713G>T (p.Cys238Phe)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "cys238phe",
      "c-713g-t",
      "ca16603000"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA16603000",
      "rsIds": [
        "rs730882005"
      ],
      "clinvarVariationId": 376574,
      "vcv": "VCV000376574",
      "clinvarAlleleId": 363453
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 7674250,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 7577568,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000546.6",
      "maneSelect": true,
      "hgvsC": "c.713G>T",
      "hgvsP": "p.Cys238Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0018875",
        "name": "Li-Fraumeni Syndrome",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000376574",
        "submissions": 2,
        "lastEvaluated": "2024-06-04"
      }
    ],
    "reports": [
      {
        "slug": "li-fraumeni-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0018875",
            "name": "Li-Fraumeni Syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "li-fraumeni-syndrome",
      "name": "Li-Fraumeni Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0018875",
          "name": "Li-Fraumeni Syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/li-fraumeni-syndrome"
    }
  ]
}