{
  "url": "https://dantelabs.com/genes/tp53/variants/s127p",
  "gene": {
    "slug": "tp53",
    "symbol": "TP53",
    "hgnc": "HGNC:11998",
    "url": "https://dantelabs.com/genes/tp53"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "tp53",
      "symbol": "TP53",
      "hgnc": "HGNC:11998"
    },
    "slug": "s127p",
    "name": "S127P",
    "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_000546.6(TP53):c.379T>C (p.Ser127Pro)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "ser127pro",
      "c-379t-c",
      "ca397843917"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA397843917",
      "rsIds": [
        "rs1597371694"
      ],
      "clinvarVariationId": 934410,
      "vcv": "VCV000934410",
      "clinvarAlleleId": 938240
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 7675233,
        "ref": "A",
        "alt": "G"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 7578551,
        "ref": "A",
        "alt": "G"
      }
    ],
    "consequence": {
      "transcript": "NM_000546.6",
      "maneSelect": true,
      "hgvsC": "c.379T>C",
      "hgvsP": "p.Ser127Pro",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0018875",
        "name": "Li-Fraumeni Syndrome",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000934410",
        "submissions": 1,
        "lastEvaluated": "2026-03-04",
        "expertPanel": "ClinGen TP53 Variant Curation Expert Panel, ClinGen"
      }
    ],
    "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"
    }
  ]
}