{
  "url": "https://dantelabs.com/genes/brip1/variants/e458x",
  "gene": {
    "slug": "brip1",
    "symbol": "BRIP1",
    "hgnc": "HGNC:20473",
    "url": "https://dantelabs.com/genes/brip1"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "brip1",
      "symbol": "BRIP1",
      "hgnc": "HGNC:20473"
    },
    "slug": "e458x",
    "name": "E458X",
    "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_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)",
    "description": null,
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [
      "p.E458*:GAA>TAA"
    ],
    "aliases": [
      "glu458ter",
      "c-1372g-t",
      "rs587780228",
      "ca288517",
      "p-e458-gaa-taa",
      "vcv128156"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA288517",
      "rsIds": [
        "rs587780228"
      ],
      "clinvarVariationId": 128156,
      "vcv": "VCV000128156",
      "clinvarAlleleId": 133613
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 61793698,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 59871059,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_032043.3",
      "maneSelect": true,
      "hgvsC": "c.1372G>T",
      "hgvsP": "p.Glu458Ter",
      "consequences": [
        "stop_gained"
      ],
      "impact": "high"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "likely-pathogenic",
      "points": 8,
      "criteria": [
        {
          "code": "PVS1",
          "strength": "very-strong",
          "points": 8,
          "counted": true,
          "consequence": "stop_gained",
          "grading": [
            "nmd",
            "lof-mechanism-unchecked"
          ]
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000012343257769737897,
          "alleleCount": 18,
          "alleleNumber": 1458286,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00001621129922568798
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.000010130000191566069
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000026297796244674696,
          "alleleCount": 4,
          "alleleNumber": 152104,
          "homozygotes": 0,
          "groupMax": {
            "group": "afr",
            "frequency": 0.00007238329999381676
          },
          "filteringMax": {
            "group": "afr",
            "frequency": 0.000019189999875379726
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0012187",
        "name": "Fanconi anemia complementation group J",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000128156",
        "submissions": 3,
        "lastEvaluated": "2026-01-24"
      },
      {
        "mondoId": "MONDO:0016419",
        "name": "Hereditary breast cancer",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000128156",
        "submissions": 5,
        "lastEvaluated": "2026-01-24"
      }
    ],
    "reports": [
      {
        "slug": "dna-repair-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0021190",
            "name": "Dna Repair Disease",
            "inheritance": "autosomal-recessive"
          }
        ]
      },
      {
        "slug": "fanconi-anemia",
        "diseases": [
          {
            "mondoId": "MONDO:0019391",
            "name": "Fanconi Anemia",
            "inheritance": "autosomal-recessive"
          }
        ]
      },
      {
        "slug": "moderate-penetrance-breast-ovarian-cancer-genes",
        "diseases": [
          {
            "mondoId": "MONDO:0016419",
            "name": "Hereditary breast cancer",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "dna-repair-disease",
      "name": "DNA Repair Disease",
      "diseases": [
        {
          "mondoId": "MONDO:0021190",
          "name": "Dna Repair Disease",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/dna-repair-disease"
    },
    {
      "slug": "fanconi-anemia",
      "name": "Fanconi Anemia",
      "diseases": [
        {
          "mondoId": "MONDO:0019391",
          "name": "Fanconi Anemia",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/fanconi-anemia"
    },
    {
      "slug": "moderate-penetrance-breast-ovarian-cancer-genes",
      "name": "Breast and Ovarian Cancer Genes Beyond BRCA1/2",
      "diseases": [
        {
          "mondoId": "MONDO:0016419",
          "name": "Hereditary breast cancer",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes"
    }
  ]
}