{
  "url": "https://dantelabs.com/genes/eng/variants/g331s",
  "gene": {
    "slug": "eng",
    "symbol": "ENG",
    "hgnc": "HGNC:3349",
    "url": "https://dantelabs.com/genes/eng"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "eng",
      "symbol": "ENG",
      "hgnc": "HGNC:3349"
    },
    "slug": "g331s",
    "name": "G331S",
    "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_001114753.3(ENG):c.991G>A (p.Gly331Ser)",
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "gly331ser",
      "c-991g-a",
      "rs1060501410",
      "ca16612528"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA16612528",
      "rsIds": [
        "rs1060501410"
      ],
      "clinvarVariationId": 407115,
      "vcv": "VCV000407115",
      "clinvarAlleleId": 396689
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "9",
        "pos": 127824800,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "9",
        "pos": 130587079,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_001114753.3",
      "maneSelect": true,
      "hgvsC": "c.991G>A",
      "hgvsP": "p.Gly331Ser",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic",
            "stars": 3
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0008535",
        "name": "Telangiectasia, Hereditary Hemorrhagic, Type 1",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000407115",
        "submissions": 1,
        "lastEvaluated": "2024-03-15",
        "expertPanel": "ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "hereditary-hemorrhagic-telangiectasia",
        "diseases": [
          {
            "mondoId": "MONDO:0019180",
            "name": "Hereditary Hemorrhagic Telangiectasia",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0008535",
            "name": "Telangiectasia, Hereditary Hemorrhagic, Type 1",
            "inheritance": "autosomal-dominant"
          },
          {
            "mondoId": "MONDO:0001576",
            "name": "Telangiectasis"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hereditary-hemorrhagic-telangiectasia",
      "name": "Hereditary Hemorrhagic Telangiectasia",
      "diseases": [
        {
          "mondoId": "MONDO:0019180",
          "name": "Hereditary Hemorrhagic Telangiectasia",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        },
        {
          "mondoId": "MONDO:0008535",
          "name": "Telangiectasia, Hereditary Hemorrhagic, Type 1",
          "inheritance": "autosomal-dominant",
          "sameAsReport": false
        },
        {
          "mondoId": "MONDO:0001576",
          "name": "Telangiectasis",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hereditary-hemorrhagic-telangiectasia"
    }
  ]
}