{
  "url": "https://dantelabs.com/genes/cdh1/variants/e336d",
  "gene": {
    "slug": "cdh1",
    "symbol": "CDH1",
    "hgnc": "HGNC:1748",
    "url": "https://dantelabs.com/genes/cdh1"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "cdh1",
      "symbol": "CDH1",
      "hgnc": "HGNC:1748"
    },
    "slug": "e336d",
    "name": "E336D",
    "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_004360.5(CDH1):c.1008G>T (p.Glu336Asp)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [
      "1008G-T"
    ],
    "aliases": [
      "glu336asp",
      "c-1008g-t",
      "ca280990",
      "1008g-t"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA280990",
      "rsIds": [
        "rs267606712"
      ],
      "clinvarVariationId": 18453,
      "vcv": "VCV000018453",
      "clinvarAlleleId": 33492
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "16",
        "pos": 68811859,
        "ref": "G",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "16",
        "pos": 68845762,
        "ref": "G",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_004360.5",
      "maneSelect": true,
      "hgvsC": "c.1008G>T",
      "hgvsP": "p.Glu336Asp",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0100488",
        "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000018453",
        "submissions": 1,
        "lastEvaluated": "2023-08-28",
        "expertPanel": "Clingen Gastric Cancer Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "hereditary-diffuse-gastric-cancer",
        "diseases": [
          {
            "mondoId": "MONDO:0100488",
            "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hereditary-diffuse-gastric-cancer",
      "name": "Hereditary Diffuse Gastric Cancer",
      "diseases": [
        {
          "mondoId": "MONDO:0100488",
          "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hereditary-diffuse-gastric-cancer"
    }
  ]
}