{
  "url": "https://dantelabs.com/genes/men1/variants/a467gfs59",
  "gene": {
    "slug": "men1",
    "symbol": "MEN1",
    "hgnc": "HGNC:7010",
    "url": "https://dantelabs.com/genes/men1"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "men1",
      "symbol": "MEN1",
      "hgnc": "HGNC:7010"
    },
    "slug": "a467gfs59",
    "name": "A467Gfs*59",
    "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_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "ala467glyfster59",
      "c-1400to1413del",
      "rs1592633463",
      "ca915948599"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA915948599",
      "rsIds": [
        "rs1592633463"
      ],
      "clinvarVariationId": 657179,
      "vcv": "VCV000657179",
      "clinvarAlleleId": 640266
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "11",
        "pos": 64804753,
        "ref": "CCCACGGCTCCTCGG",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "11",
        "pos": 64572225,
        "ref": "CCCACGGCTCCTCGG",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_001370259.2",
      "maneSelect": true,
      "hgvsC": "c.1400_1413del",
      "hgvsP": "p.Ala467GlyfsTer59",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "consequence": "frameshift_variant"
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007540",
        "name": "multiple endocrine neoplasia type 1",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000657179",
        "submissions": 2,
        "lastEvaluated": "2024-10-29"
      }
    ],
    "reports": [
      {
        "slug": "malignant-endocrine-neoplasm",
        "diseases": [
          {
            "mondoId": "MONDO:0017169",
            "name": "Multiple Endocrine Neoplasia",
            "inheritance": "autosomal-dominant"
          }
        ]
      },
      {
        "slug": "thyroid-cancer-report",
        "diseases": [
          {
            "mondoId": "MONDO:0001223",
            "name": "Parathyroid Gland Disorder"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "malignant-endocrine-neoplasm",
      "name": "Malignant Endocrine Neoplasm",
      "diseases": [
        {
          "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:0001223",
          "name": "Parathyroid Gland Disorder",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/thyroid-cancer-report"
    }
  ]
}