{
  "url": "https://dantelabs.com/genes/map2k2/variants/f57v",
  "gene": {
    "slug": "map2k2",
    "symbol": "MAP2K2",
    "hgnc": "HGNC:6842",
    "url": "https://dantelabs.com/genes/map2k2"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "map2k2",
      "symbol": "MAP2K2",
      "hgnc": "HGNC:6842"
    },
    "slug": "f57v",
    "name": "F57V",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-17-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-17"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)",
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "phe57val",
      "c-169t-g",
      "rs121434498",
      "ca279960"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA279960",
      "rsIds": [
        "rs121434498"
      ],
      "clinvarVariationId": 8273,
      "vcv": "VCV000008273",
      "clinvarAlleleId": 23312
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "19",
        "pos": 4117553,
        "ref": "A",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "19",
        "pos": 4117551,
        "ref": "A",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_030662.4",
      "maneSelect": true,
      "hgvsC": "c.169T>G",
      "hgvsP": "p.Phe57Val",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 3
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0015280",
        "name": "cardiofaciocutaneous syndrome",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000008273",
        "submissions": 1,
        "lastEvaluated": "2017-05-09",
        "expertPanel": "ClinGen RASopathy Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "hypertrophic-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Hypertrophic Cardiomyopathy",
            "inheritance": "autosomal-dominant"
          }
        ]
      },
      {
        "slug": "noonan-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0020297",
            "name": "Noonan Syndrome and Noonan-Related Syndromes"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hypertrophic-cardiomyopathy",
      "name": "Hypertrophic Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0005045",
          "name": "Hypertrophic Cardiomyopathy",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/hypertrophic-cardiomyopathy"
    },
    {
      "slug": "noonan-syndrome",
      "name": "Noonan Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0020297",
          "name": "Noonan Syndrome and Noonan-Related Syndromes",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/noonan-syndrome"
    }
  ]
}