{
  "url": "https://dantelabs.com/genes/ret/variants/c618s",
  "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": "c618s",
    "name": "C618S",
    "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.1853G>C (p.Cys618Ser)",
    "description": null,
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [
      "p.C618S:TGC>TCC"
    ],
    "aliases": [
      "c-1853g-c",
      "ca008013",
      "p-c618s-tgc-tcc"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA008013",
      "rsIds": [
        "rs79781594"
      ],
      "clinvarVariationId": 13914,
      "vcv": "VCV000013914",
      "clinvarAlleleId": 28953
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "10",
        "pos": 43113649,
        "ref": "G",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "10",
        "pos": 43609097,
        "ref": "G",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_020975.6",
      "maneSelect": true,
      "hgvsC": "c.1853G>C",
      "hgvsP": "p.Cys618Ser",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PM2",
          "strength": "supporting",
          "population": {
            "datasets": [
              "gnomad-exomes",
              "gnomad-genomes"
            ]
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "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:0019003",
        "name": "Multiple Endocrine Neoplasia Type 2",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000013914",
        "submissions": 3,
        "lastEvaluated": "2025-12-02"
      }
    ],
    "reports": [
      {
        "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:0019003",
            "name": "Multiple Endocrine Neoplasia Type 2",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Thyroid Gland Disorder"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "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:0019003",
          "name": "Multiple Endocrine Neoplasia Type 2",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0003240",
          "name": "Thyroid Gland Disorder",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/thyroid-cancer-report"
    }
  ]
}