{
  "url": "https://dantelabs.com/genes/btd/variants/a142v",
  "gene": {
    "slug": "btd",
    "symbol": "BTD",
    "hgnc": "HGNC:1122",
    "url": "https://dantelabs.com/genes/btd"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "btd",
      "symbol": "BTD",
      "hgnc": "HGNC:1122"
    },
    "slug": "a142v",
    "name": "A142V",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-17-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-17"
      },
      {
        "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.425C>T (p.Ala142Val)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "ala142val",
      "c-425c-t",
      "rs397514364",
      "ca278217"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA278217",
      "rsIds": [
        "rs397514364"
      ],
      "clinvarVariationId": 25014,
      "vcv": "VCV000025014",
      "clinvarAlleleId": 36351
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "3",
        "pos": 15644341,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "3",
        "pos": 15685848,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_001370658.1",
      "maneSelect": true,
      "hgvsC": "c.425C>T",
      "hgvsP": "p.Ala142Val",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0009665",
        "name": "biotinidase deficiency",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000025014",
        "submissions": 4,
        "lastEvaluated": "2024-08-29"
      }
    ],
    "reports": [
      {
        "slug": "biotinidase-and-holocarboxylase-deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0015454",
            "name": "Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)",
            "inheritance": "autosomal-recessive"
          }
        ]
      }
    ],
    "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"
    }
  ]
}