{
  "url": "https://dantelabs.com/genes/ldlr/variants/d700n",
  "gene": {
    "slug": "ldlr",
    "symbol": "LDLR",
    "hgnc": "HGNC:6547",
    "url": "https://dantelabs.com/genes/ldlr"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "ldlr",
      "symbol": "LDLR",
      "hgnc": "HGNC:6547"
    },
    "slug": "d700n",
    "name": "D700N",
    "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_000527.5(LDLR):c.2098G>A (p.Asp700Asn)",
    "description": null,
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "asp700asn",
      "c-2098g-a",
      "rs375009082",
      "ca023633"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA023633",
      "rsIds": [
        "rs375009082"
      ],
      "clinvarVariationId": 200923,
      "vcv": "VCV000200923",
      "clinvarAlleleId": 198018
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "19",
        "pos": 11120480,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "19",
        "pos": 11231156,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000527.5",
      "maneSelect": true,
      "hgvsC": "c.2098G>A",
      "hgvsP": "p.Asp700Asn",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 3
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000028053062710226915,
          "alleleCount": 41,
          "alleleNumber": 1461516,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00003327309968881309
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.00002454999957990367
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00005914204605193986,
          "alleleCount": 9,
          "alleleNumber": 152176,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00011759899643948302
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.00005841999882250093
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007750",
        "name": "hypercholesterolemia, familial, 1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000200923",
        "submissions": 1,
        "lastEvaluated": "2022-03-25",
        "expertPanel": "ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "familial-hypercholesterolemia",
        "diseases": [
          {
            "mondoId": "MONDO:0005439",
            "name": "familial hypercholesterolemia"
          }
        ]
      },
      {
        "slug": "hyperlipidemia",
        "diseases": [
          {
            "mondoId": "MONDO:0021187",
            "name": "Hyperlipidemia"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "familial-hypercholesterolemia",
      "name": "Familial Hypercholesterolemia",
      "diseases": [
        {
          "mondoId": "MONDO:0005439",
          "name": "familial hypercholesterolemia",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/familial-hypercholesterolemia"
    },
    {
      "slug": "hyperlipidemia",
      "name": "Hyperlipidemia",
      "diseases": [
        {
          "mondoId": "MONDO:0021187",
          "name": "Hyperlipidemia",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/hyperlipidemia"
    }
  ]
}