{
  "url": "https://dantelabs.com/genes/cdh1/variants/c-467g-a",
  "gene": {
    "slug": "cdh1",
    "symbol": "CDH1",
    "hgnc": "HGNC:1748",
    "url": "https://dantelabs.com/genes/cdh1"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "cdh1",
      "symbol": "CDH1",
      "hgnc": "HGNC:1748"
    },
    "slug": "c-467g-a",
    "name": "c.467G>A",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-19-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-19"
      },
      {
        "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.467G>A (p.Trp156Ter)",
    "description": null,
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "rs1555515215",
      "ca396457680"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA396457680",
      "rsIds": [
        "rs1555515215"
      ],
      "clinvarVariationId": 463781,
      "vcv": "VCV000463781",
      "clinvarAlleleId": 466817
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "16",
        "pos": 68808503,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "16",
        "pos": 68842406,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_004360.5",
      "maneSelect": true,
      "hgvsC": "c.467G>A",
      "hgvsP": "p.Trp156Ter",
      "consequences": [
        "stop_gained"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "consequence": "stop_gained"
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 3
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 6.840656484121468e-7,
          "alleleCount": 1,
          "alleleNumber": 1461848,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 8.99301994650159e-7
          },
          "filteringMax": {
            "group": "afr",
            "frequency": 0
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0100488",
        "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000463781",
        "submissions": 1,
        "lastEvaluated": "2023-08-04",
        "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"
    }
  ]
}