{
  "url": "https://dantelabs.com/genes/ada/variants/g239d",
  "gene": {
    "slug": "ada",
    "symbol": "ADA",
    "hgnc": "HGNC:186",
    "url": "https://dantelabs.com/genes/ada"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "ada",
      "symbol": "ADA",
      "hgnc": "HGNC:186"
    },
    "slug": "g239d",
    "name": "G239D",
    "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_000022.4(ADA):c.716G>A (p.Gly239Asp)",
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "gly239asp",
      "c-716g-a",
      "rs1312320956",
      "ca409120283"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA409120283",
      "rsIds": [
        "rs1312320956"
      ],
      "clinvarVariationId": 555264,
      "vcv": "VCV000555264",
      "clinvarAlleleId": 548973
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "20",
        "pos": 44622893,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "20",
        "pos": 43251534,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000022.4",
      "maneSelect": true,
      "hgvsC": "c.716G>A",
      "hgvsP": "p.Gly239Asp",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007064",
        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000555264",
        "submissions": 1,
        "lastEvaluated": "2025-11-04",
        "expertPanel": "ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease"
          }
        ]
      },
      {
        "slug": "severe-combined-immunodeficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Severe Combined Immunodeficiency",
            "inheritance": "autosomal-recessive"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "immunodeficiency-disease",
      "name": "Other Inborn Errors of Immunity",
      "diseases": [
        {
          "mondoId": "MONDO:0021094",
          "name": "Immunodeficiency Disease",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/immunodeficiency-disease"
    },
    {
      "slug": "severe-combined-immunodeficiency",
      "name": "Severe Combined Immunodeficiency",
      "diseases": [
        {
          "mondoId": "MONDO:0015974",
          "name": "Severe Combined Immunodeficiency",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/severe-combined-immunodeficiency"
    }
  ]
}