{
  "url": "https://dantelabs.com/genes/fbn1/variants/c1916y",
  "gene": {
    "slug": "fbn1",
    "symbol": "FBN1",
    "hgnc": "HGNC:3603",
    "url": "https://dantelabs.com/genes/fbn1"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "fbn1",
      "symbol": "FBN1",
      "hgnc": "HGNC:3603"
    },
    "slug": "c1916y",
    "name": "C1916Y",
    "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_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "cys1916tyr",
      "c-5747g-a",
      "rs397515827",
      "ca016026"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA016026",
      "rsIds": [
        "rs397515827"
      ],
      "clinvarVariationId": 42391,
      "vcv": "VCV000042391",
      "clinvarAlleleId": 51561
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "15",
        "pos": 48446747,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "15",
        "pos": 48738944,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000138.5",
      "maneSelect": true,
      "hgvsC": "c.5747G>A",
      "hgvsP": "p.Cys1916Tyr",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007947",
        "name": "Marfan Syndrome",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000042391",
        "submissions": 1,
        "lastEvaluated": "2024-02-22",
        "expertPanel": "ClinGen FBN1 Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "marfan-like-syndromes",
        "diseases": [
          {
            "mondoId": "MONDO:0007947",
            "name": "Marfan Syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "marfan-like-syndromes",
      "name": "Marfan Like Syndromes",
      "diseases": [
        {
          "mondoId": "MONDO:0007947",
          "name": "Marfan Syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/marfan-like-syndromes"
    }
  ]
}