{
  "url": "https://dantelabs.com/genes/tp53/variants/r342efs3",
  "gene": {
    "slug": "tp53",
    "symbol": "TP53",
    "hgnc": "HGNC:11998",
    "url": "https://dantelabs.com/genes/tp53"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "tp53",
      "symbol": "TP53",
      "hgnc": "HGNC:11998"
    },
    "slug": "r342efs3",
    "name": "R342Efs*3",
    "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_000546.6(TP53):c.1024del (p.Arg342fs)",
    "description": null,
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "arg342glufster3",
      "c-1024del",
      "rs1131691022",
      "ca497712605",
      "vcv428885"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA497712605",
      "rsIds": [
        "rs1131691022"
      ],
      "clinvarVariationId": 428885,
      "vcv": "VCV000428885",
      "clinvarAlleleId": 420634
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 7670684,
        "ref": "CG",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 7574002,
        "ref": "CG",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000546.6",
      "maneSelect": true,
      "hgvsC": "c.1024del",
      "hgvsP": "p.Arg342GlufsTer3",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "likely-pathogenic",
      "points": 9,
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "points": 8,
          "counted": true,
          "consequence": "frameshift_variant",
          "grading": [
            "nmd",
            "lof-mechanism-unchecked"
          ]
        },
        {
          "code": "PM2",
          "strength": "supporting",
          "points": 1,
          "counted": true,
          "population": {
            "datasets": [
              "gnomad-exomes",
              "gnomad-genomes"
            ]
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0018875",
        "name": "Li-Fraumeni Syndrome",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000428885",
        "submissions": 2,
        "lastEvaluated": "2025-12-19"
      }
    ],
    "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"
    }
  ]
}