{
  "url": "https://dantelabs.com/genes/nf2/variants/a4pfs6",
  "gene": {
    "slug": "nf2",
    "symbol": "NF2",
    "hgnc": "HGNC:7773",
    "url": "https://dantelabs.com/genes/nf2"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "nf2",
      "symbol": "NF2",
      "hgnc": "HGNC:7773"
    },
    "slug": "a4pfs6",
    "name": "A4Pfs*6",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000268.4(NF2):c.10del (p.Ala4fs)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "ala4profster6",
      "c-10del",
      "rs2064712705",
      "ca1139667028"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA1139667028",
      "rsIds": [
        "rs2064712705"
      ],
      "clinvarVariationId": 962511,
      "vcv": "VCV000962511",
      "clinvarAlleleId": 951407
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "22",
        "pos": 29604004,
        "ref": "CG",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "22",
        "pos": 29999993,
        "ref": "CG",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000268.4",
      "maneSelect": true,
      "hgvsC": "c.10del",
      "hgvsP": "p.Ala4ProfsTer6",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007039",
        "name": "NF2-related schwannomatosis",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000962511",
        "submissions": 2,
        "lastEvaluated": "2022-04-10"
      }
    ],
    "reports": [
      {
        "slug": "neurofibromatosis",
        "diseases": [
          {
            "mondoId": "MONDO:0021061",
            "name": "Neurofibromatosis",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "neurofibromatosis",
      "name": "Neurofibromatosis",
      "diseases": [
        {
          "mondoId": "MONDO:0021061",
          "name": "Neurofibromatosis",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/neurofibromatosis"
    }
  ]
}