{
  "url": "https://dantelabs.com/genes/vhl/variants/f136s",
  "gene": {
    "slug": "vhl",
    "symbol": "VHL",
    "hgnc": "HGNC:12687",
    "url": "https://dantelabs.com/genes/vhl"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "vhl",
      "symbol": "VHL",
      "hgnc": "HGNC:12687"
    },
    "slug": "f136s",
    "name": "F136S",
    "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_000551.4(VHL):c.407T>C (p.Phe136Ser)",
    "description": null,
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "phe136ser",
      "c-407t-c",
      "rs5030833",
      "ca040847",
      "vcv496064"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA040847",
      "rsIds": [
        "rs5030833"
      ],
      "clinvarVariationId": 496064,
      "vcv": "VCV000496064",
      "clinvarAlleleId": 487032
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "3",
        "pos": 10146580,
        "ref": "T",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "3",
        "pos": 10188264,
        "ref": "T",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000551.4",
      "maneSelect": true,
      "hgvsC": "c.407T>C",
      "hgvsP": "p.Phe136Ser",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "uncertain-significance",
      "points": 3,
      "criteria": [
        {
          "code": "PM5",
          "strength": "moderate",
          "points": 2,
          "counted": true,
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          },
          "related": {
            "allele": "CA351754039",
            "hgvsP": "p.Phe136Val"
          }
        },
        {
          "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:0008667",
        "name": "Von Hippel-Lindau Disease",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000496064",
        "submissions": 4,
        "lastEvaluated": "2023-07-19"
      }
    ],
    "reports": [
      {
        "slug": "von-hippel-lindau-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0008667",
            "name": "Von Hippel-Lindau Disease",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "von-hippel-lindau-disease",
      "name": "Von Hippel-Lindau Disease",
      "diseases": [
        {
          "mondoId": "MONDO:0008667",
          "name": "Von Hippel-Lindau Disease",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/von-hippel-lindau-disease"
    }
  ]
}