{
  "url": "https://dantelabs.com/genes/btd/variants/d523e",
  "gene": {
    "slug": "btd",
    "symbol": "BTD",
    "hgnc": "HGNC:1122",
    "url": "https://dantelabs.com/genes/btd"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "btd",
      "symbol": "BTD",
      "hgnc": "HGNC:1122"
    },
    "slug": "d523e",
    "name": "D523E",
    "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_001370658.1(BTD):c.1569C>A (p.Asp523Glu)",
    "description": null,
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "asp523glu",
      "c-1569c-a",
      "rs146136265",
      "ca220321",
      "vcv25103"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA220321",
      "rsIds": [
        "rs146136265"
      ],
      "clinvarVariationId": 25103,
      "vcv": "VCV000025103",
      "clinvarAlleleId": 36437
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "3",
        "pos": 15645485,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "3",
        "pos": 15686992,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_001370658.1",
      "maneSelect": true,
      "hgvsC": "c.1569C>A",
      "hgvsP": "p.Asp523Glu",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "uncertain-significance",
      "points": 2,
      "criteria": [
        {
          "code": "PM5",
          "strength": "moderate",
          "points": 2,
          "counted": true,
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 1
          },
          "related": {
            "allele": "clinvar.allele:5077503",
            "hgvsP": "p.Asp523Tyr"
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000015142150378071964,
          "alleleCount": 22,
          "alleleNumber": 1452898,
          "homozygotes": 0,
          "groupMax": {
            "group": "afr",
            "frequency": 0.00056753697572276
          },
          "filteringMax": {
            "group": "afr",
            "frequency": 0.00037105000228621066
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00020378916367556766,
          "alleleCount": 31,
          "alleleNumber": 152118,
          "homozygotes": 0,
          "groupMax": {
            "group": "afr",
            "frequency": 0.0007001790218055248
          },
          "filteringMax": {
            "group": "afr",
            "frequency": 0.000499950023368001
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0009665",
        "name": "biotinidase deficiency",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000025103",
        "submissions": 6,
        "lastEvaluated": "2025-12-31"
      }
    ],
    "reports": [
      {
        "slug": "biotinidase-and-holocarboxylase-deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0015454",
            "name": "Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)",
            "inheritance": "autosomal-recessive"
          }
        ]
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "biotinidase-and-holocarboxylase-deficiency",
      "name": "Biotinidase & Holocarboxylase Deficiency",
      "diseases": [
        {
          "mondoId": "MONDO:0015454",
          "name": "Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)",
          "inheritance": "autosomal-recessive",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/biotinidase-and-holocarboxylase-deficiency"
    },
    {
      "slug": "rare-hereditary-peripheral-neuropathies",
      "name": "Rare Hereditary Peripheral Neuropathies",
      "diseases": [
        {
          "mondoId": "MONDO:0020127",
          "name": "Hereditary Peripheral Neuropathy",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/rare-hereditary-peripheral-neuropathies"
    }
  ]
}