{
  "url": "https://dantelabs.com/genes/tp53/variants/c277y",
  "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": "c277y",
    "name": "C277Y",
    "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.830G>A (p.Cys277Tyr)",
    "classification": "likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "cys277tyr",
      "c-830g-a",
      "rs763098116",
      "ca000438"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA000438",
      "rsIds": [
        "rs763098116"
      ],
      "clinvarVariationId": 185722,
      "vcv": "VCV000185722",
      "clinvarAlleleId": 185348
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 7673790,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 7577108,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000546.6",
      "maneSelect": true,
      "hgvsC": "c.830G>A",
      "hgvsP": "p.Cys277Tyr",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.0000020521969452364406,
          "alleleCount": 3,
          "alleleNumber": 1461848,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.0000026978600544680376
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 7.200000027296483e-7
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0008734",
        "name": "adrenocortical carcinoma, hereditary",
        "classification": "likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000185722",
        "submissions": 2,
        "lastEvaluated": "2025-09-10"
      }
    ],
    "reports": [
      {
        "slug": "kidney-cancer",
        "diseases": [
          {
            "mondoId": "MONDO:0002367",
            "name": "Kidney Cancer"
          }
        ]
      },
      {
        "slug": "malignant-endocrine-neoplasm",
        "diseases": [
          {
            "mondoId": "MONDO:0021069",
            "name": "Malignant Endocrine Neoplasm"
          }
        ]
      },
      {
        "slug": "urinary-and-renal-system-tumour",
        "diseases": [
          {
            "mondoId": "MONDO:0021066",
            "name": "Urinary System Neoplasm"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "kidney-cancer",
      "name": "Kidney Cancer",
      "diseases": [
        {
          "mondoId": "MONDO:0002367",
          "name": "Kidney Cancer",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/kidney-cancer"
    },
    {
      "slug": "malignant-endocrine-neoplasm",
      "name": "Malignant Endocrine Neoplasm",
      "diseases": [
        {
          "mondoId": "MONDO:0021069",
          "name": "Malignant Endocrine Neoplasm",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/malignant-endocrine-neoplasm"
    },
    {
      "slug": "urinary-and-renal-system-tumour",
      "name": "Urinary and Renal System Tumour",
      "diseases": [
        {
          "mondoId": "MONDO:0021066",
          "name": "Urinary System Neoplasm",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/urinary-and-renal-system-tumour"
    }
  ]
}