{
  "url": "https://dantelabs.com/genes/myo7a/variants/h133n",
  "gene": {
    "slug": "myo7a",
    "symbol": "MYO7A",
    "hgnc": "HGNC:7606",
    "url": "https://dantelabs.com/genes/myo7a"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "myo7a",
      "symbol": "MYO7A",
      "hgnc": "HGNC:7606"
    },
    "slug": "h133n",
    "name": "H133N",
    "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_000260.4(MYO7A):c.397C>A (p.His133Asn)",
    "description": null,
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "his133asn",
      "c-397c-a",
      "rs111033403",
      "ca177366",
      "vcv164656"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA177366",
      "rsIds": [
        "rs111033403"
      ],
      "clinvarVariationId": 164656,
      "vcv": "VCV000164656",
      "clinvarAlleleId": 176872
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "11",
        "pos": 77156018,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "11",
        "pos": 76867064,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000260.4",
      "maneSelect": true,
      "hgvsC": "c.397C>A",
      "hgvsP": "p.His133Asn",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "uncertain-significance",
      "points": 2,
      "criteria": [
        {
          "code": "PM5",
          "strength": "moderate",
          "points": 2,
          "counted": true,
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          },
          "related": {
            "allele": "CA278660",
            "hgvsP": "p.His133Tyr"
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 3
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.0000978391906851617,
          "alleleCount": 143,
          "alleleNumber": 1461582,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00012591699487529695
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.00010835000284714624
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.000052501017207208387,
          "alleleCount": 8,
          "alleleNumber": 152378,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00010287499753758311
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.00004763999822898768
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0019501",
        "name": "Usher Syndrome",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000164656",
        "submissions": 1,
        "lastEvaluated": "2025-03-12",
        "expertPanel": "ClinGen Hearing Loss Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "usher-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019501",
            "name": "Usher Syndrome",
            "inheritance": "autosomal-recessive"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "usher-syndrome",
      "name": "Usher Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0019501",
          "name": "Usher Syndrome",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/usher-syndrome"
    }
  ]
}