{
  "url": "https://dantelabs.com/genes/acta2/variants/r39c",
  "gene": {
    "slug": "acta2",
    "symbol": "ACTA2",
    "hgnc": "HGNC:130",
    "url": "https://dantelabs.com/genes/acta2"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "acta2",
      "symbol": "ACTA2",
      "hgnc": "HGNC:130"
    },
    "slug": "r39c",
    "name": "R39C",
    "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_001613.4(ACTA2):c.115C>T (p.Arg39Cys)",
    "description": null,
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "arg39cys",
      "c-115c-t",
      "rs112901682",
      "ca006817"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA006817",
      "rsIds": [
        "rs112901682"
      ],
      "clinvarVariationId": 65449,
      "vcv": "VCV000065449",
      "clinvarAlleleId": 76366
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "10",
        "pos": 88948816,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "10",
        "pos": 90708573,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_001613.4",
      "maneSelect": true,
      "hgvsC": "c.115C>T",
      "hgvsP": "p.Arg39Cys",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000006574103292310929,
          "alleleCount": 1,
          "alleleNumber": 152112,
          "homozygotes": 0,
          "filteringMax": {
            "group": "afr",
            "frequency": 0
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0012730",
        "name": "aortic aneurysm, familial thoracic 6",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000065449",
        "submissions": 2,
        "lastEvaluated": "2025-08-06"
      },
      {
        "mondoId": "MONDO:0019625",
        "name": "Familial Thoracic Aortic Aneurysm and Dissection",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000065449",
        "submissions": 3,
        "lastEvaluated": "2024-09-06"
      }
    ],
    "reports": [
      {
        "slug": "aortic-aneurysm",
        "diseases": [
          {
            "mondoId": "MONDO:0019625",
            "name": "Familial Thoracic Aortic Aneurysm and Dissection",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0013452",
            "name": "Multisystemic Smooth Muscle Dysfunction Syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "aortic-aneurysm",
      "name": "Aortic Aneurysm",
      "diseases": [
        {
          "mondoId": "MONDO:0019625",
          "name": "Familial Thoracic Aortic Aneurysm and Dissection",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0013452",
          "name": "Multisystemic Smooth Muscle Dysfunction Syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/aortic-aneurysm"
    }
  ]
}