{
  "url": "https://dantelabs.com/genes/ttr/variants/e109q",
  "gene": {
    "slug": "ttr",
    "symbol": "TTR",
    "hgnc": "HGNC:12405",
    "url": "https://dantelabs.com/genes/ttr"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "ttr",
      "symbol": "TTR",
      "hgnc": "HGNC:12405"
    },
    "slug": "e109q",
    "name": "E109Q",
    "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_000371.4(TTR):c.325G>C (p.Glu109Gln)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [
      "E89Q"
    ],
    "aliases": [
      "glu109gln",
      "c-325g-c",
      "ca256829",
      "e89q"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA256829",
      "rsIds": [
        "rs121918082"
      ],
      "clinvarVariationId": 13442,
      "vcv": "VCV000013442",
      "clinvarAlleleId": 28481
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "18",
        "pos": 31595244,
        "ref": "G",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "18",
        "pos": 29175207,
        "ref": "G",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000371.4",
      "maneSelect": true,
      "hgvsC": "c.325G>C",
      "hgvsP": "p.Glu109Gln",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0971004",
        "name": "amyloidosis, hereditary systemic 1",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000013442",
        "submissions": 2,
        "lastEvaluated": "2024-09-03"
      }
    ],
    "reports": [
      {
        "slug": "hereditary-amyloidosis-145",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Hereditary Amyloidosis",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hereditary-amyloidosis-145",
      "name": "Hereditary Amyloidosis",
      "diseases": [
        {
          "mondoId": "MONDO:0018634",
          "name": "Hereditary Amyloidosis",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/hereditary-amyloidosis-145"
    }
  ]
}