{
  "url": "https://dantelabs.com/genes/brca1/variants/d693efs18",
  "gene": {
    "slug": "brca1",
    "symbol": "BRCA1",
    "hgnc": "HGNC:1100",
    "url": "https://dantelabs.com/genes/brca1"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "brca1",
      "symbol": "BRCA1",
      "hgnc": "HGNC:1100"
    },
    "slug": "d693efs18",
    "name": "D693Efs*18",
    "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_007294.4(BRCA1):c.2079_2080del (p.Asp693fs)",
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [
      "2198delCA"
    ],
    "aliases": [
      "asp693glufster18",
      "c-2079to2080del",
      "rs80357773",
      "ca001378",
      "2198delca"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA001378",
      "rsIds": [
        "rs80357773"
      ],
      "clinvarVariationId": 54454,
      "vcv": "VCV000054454",
      "clinvarAlleleId": 69121
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 43093450,
        "ref": "CTG",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 41245467,
        "ref": "CTG",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_007294.4",
      "maneSelect": true,
      "hgvsC": "c.2079_2080del",
      "hgvsP": "p.Asp693GlufsTer18",
      "consequences": [
        "frameshift_variant",
        "frameshift_truncation"
      ],
      "impact": "high"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0011450",
        "name": "breast-ovarian cancer, familial, susceptibility to, 1",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000054454",
        "submissions": 1,
        "lastEvaluated": "2016-09-08",
        "expertPanel": "Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)"
      }
    ],
    "reports": [
      {
        "slug": "hereditary-breast-ovarian-cancer",
        "diseases": [
          {
            "mondoId": "MONDO:0003582",
            "name": "Hereditary Breast and Ovarian Cancer Syndrome",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0700268",
            "name": "BRCA1-related cancer predisposition",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hereditary-breast-ovarian-cancer",
      "name": "Hereditary Breast and Ovarian Cancer (BRCA1/2)",
      "diseases": [
        {
          "mondoId": "MONDO:0003582",
          "name": "Hereditary Breast and Ovarian Cancer Syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0700268",
          "name": "BRCA1-related cancer predisposition",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hereditary-breast-ovarian-cancer"
    }
  ]
}