{
  "url": "https://dantelabs.com/genes/ret/variants/v804m",
  "gene": {
    "slug": "ret",
    "symbol": "RET",
    "hgnc": "HGNC:9967",
    "url": "https://dantelabs.com/genes/ret"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "ret",
      "symbol": "RET",
      "hgnc": "HGNC:9967"
    },
    "slug": "v804m",
    "name": "V804M",
    "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_020975.6(RET):c.2410G>A (p.Val804Met)",
    "description": null,
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "val804met",
      "c-2410g-a",
      "ca008751"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA008751",
      "rsIds": [
        "rs79658334"
      ],
      "clinvarVariationId": 37102,
      "vcv": "VCV000037102",
      "clinvarAlleleId": 28984
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "10",
        "pos": 43119548,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "10",
        "pos": 43614996,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_020975.6",
      "maneSelect": true,
      "hgvsC": "c.2410G>A",
      "hgvsP": "p.Val804Met",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00012453848514414124,
          "alleleCount": 181,
          "alleleNumber": 1453366,
          "homozygotes": 0,
          "groupMax": {
            "group": "amr",
            "frequency": 0.0002264600043417886
          },
          "filteringMax": {
            "group": "amr",
            "frequency": 0.00012201000208733603
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00009859469691990167,
          "alleleCount": 15,
          "alleleNumber": 152138,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00014704199566040188
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.0000791100028436631
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007958",
        "name": "Familial Medullary Thyroid Carcinoma",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 9,
        "lastEvaluated": "2025-03-23"
      },
      {
        "mondoId": "MONDO:0008233",
        "name": "Hereditary pheochromocytoma",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 3,
        "lastEvaluated": "2024-04-10"
      },
      {
        "mondoId": "MONDO:0007723",
        "name": "Hirschsprung disease, susceptibility to, 1",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 4,
        "lastEvaluated": "2024-04-10"
      },
      {
        "mondoId": "MONDO:0019003",
        "name": "Multiple Endocrine Neoplasia Type 2",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 6,
        "lastEvaluated": "2026-02-03"
      },
      {
        "mondoId": "MONDO:0008234",
        "name": "Multiple Endocrine Neoplasia Type 2a",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 9,
        "lastEvaluated": "2024-04-10"
      },
      {
        "mondoId": "MONDO:0008082",
        "name": "Multiple Endocrine Neoplasia Type 2b",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000037102",
        "submissions": 4,
        "lastEvaluated": "2025-10-03"
      }
    ],
    "reports": [
      {
        "slug": "hereditary-pheochromocytoma-paraganglioma",
        "diseases": [
          {
            "mondoId": "MONDO:0008233",
            "name": "Hereditary pheochromocytoma",
            "inheritance": "autosomal-dominant"
          }
        ]
      },
      {
        "slug": "hirschsprung-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0100179",
            "name": "Hirschsprung disease, genetic susceptibility",
            "inheritance": "autosomal-dominant"
          }
        ]
      },
      {
        "slug": "malignant-endocrine-neoplasm",
        "diseases": [
          {
            "mondoId": "MONDO:0021069",
            "name": "Malignant Endocrine Neoplasm"
          },
          {
            "mondoId": "MONDO:0017169",
            "name": "Multiple Endocrine Neoplasia",
            "inheritance": "autosomal-dominant"
          }
        ]
      },
      {
        "slug": "thyroid-cancer-report",
        "diseases": [
          {
            "mondoId": "MONDO:0015074",
            "name": "Thyroid Tumor"
          },
          {
            "mondoId": "MONDO:0002108",
            "name": "Thyroid Cancer"
          },
          {
            "mondoId": "MONDO:0015075",
            "name": "Thyroid Gland Carcinoma"
          },
          {
            "mondoId": "MONDO:0024622",
            "name": "Thyroid Gland Adenocarcinoma"
          },
          {
            "mondoId": "MONDO:0019003",
            "name": "Multiple Endocrine Neoplasia Type 2",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0015447",
            "name": "Differentiated Thyroid Carcinoma"
          },
          {
            "mondoId": "MONDO:0005034",
            "name": "Thyroid Gland Follicular Carcinoma"
          },
          {
            "mondoId": "MONDO:0008082",
            "name": "Multiple Endocrine Neoplasia Type 2b",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0007958",
            "name": "Familial Medullary Thyroid Carcinoma",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0008234",
            "name": "Multiple Endocrine Neoplasia Type 2a",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0015277",
            "name": "Medullary Thyroid Gland Carcinoma"
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Thyroid Gland Disorder"
          }
        ]
      },
      {
        "slug": "urinary-and-renal-system-tumour",
        "diseases": [
          {
            "mondoId": "MONDO:0021066",
            "name": "Urinary System Neoplasm"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hereditary-pheochromocytoma-paraganglioma",
      "name": "Hereditary Pheochromocytoma and Paraganglioma",
      "diseases": [
        {
          "mondoId": "MONDO:0008233",
          "name": "Hereditary pheochromocytoma",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hereditary-pheochromocytoma-paraganglioma"
    },
    {
      "slug": "hirschsprung-disease",
      "name": "Hirschsprung Disease & Related Enteric Neurocristopathies",
      "diseases": [
        {
          "mondoId": "MONDO:0100179",
          "name": "Hirschsprung disease, genetic susceptibility",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hirschsprung-disease"
    },
    {
      "slug": "malignant-endocrine-neoplasm",
      "name": "Malignant Endocrine Neoplasm",
      "diseases": [
        {
          "mondoId": "MONDO:0021069",
          "name": "Malignant Endocrine Neoplasm",
          "sameAsReport": true
        },
        {
          "mondoId": "MONDO:0017169",
          "name": "Multiple Endocrine Neoplasia",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/malignant-endocrine-neoplasm"
    },
    {
      "slug": "thyroid-cancer-report",
      "name": "Thyroid Cancer",
      "diseases": [
        {
          "mondoId": "MONDO:0015074",
          "name": "Thyroid Tumor",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0002108",
          "name": "Thyroid Cancer",
          "sameAsReport": true
        },
        {
          "mondoId": "MONDO:0015075",
          "name": "Thyroid Gland Carcinoma",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0024622",
          "name": "Thyroid Gland Adenocarcinoma",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0019003",
          "name": "Multiple Endocrine Neoplasia Type 2",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0015447",
          "name": "Differentiated Thyroid Carcinoma",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0005034",
          "name": "Thyroid Gland Follicular Carcinoma",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0008082",
          "name": "Multiple Endocrine Neoplasia Type 2b",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0007958",
          "name": "Familial Medullary Thyroid Carcinoma",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0008234",
          "name": "Multiple Endocrine Neoplasia Type 2a",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0015277",
          "name": "Medullary Thyroid Gland Carcinoma",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0003240",
          "name": "Thyroid Gland Disorder",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/thyroid-cancer-report"
    },
    {
      "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"
    }
  ]
}