{
  "url": "https://dantelabs.com/genes/msh2/variants/c697f",
  "gene": {
    "slug": "msh2",
    "symbol": "MSH2",
    "hgnc": "HGNC:7325",
    "url": "https://dantelabs.com/genes/msh2"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "msh2",
      "symbol": "MSH2",
      "hgnc": "HGNC:7325"
    },
    "slug": "c697f",
    "name": "C697F",
    "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_000251.3(MSH2):c.2090G>T (p.Cys697Phe)",
    "description": null,
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "cys697phe",
      "c-2090g-t",
      "ca019999",
      "vcv90883"
    ],
    "changedAt": "2026-10-19",
    "identifiers": {
      "allele": "CA019999",
      "rsIds": [
        "rs63750398"
      ],
      "clinvarVariationId": 90883,
      "vcv": "VCV000090883",
      "clinvarAlleleId": 96358
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "2",
        "pos": 47476451,
        "ref": "G",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "2",
        "pos": 47703590,
        "ref": "G",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000251.3",
      "maneSelect": true,
      "hgvsC": "c.2090G>T",
      "hgvsP": "p.Cys697Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "5",
      "classification": "uncertain-significance",
      "points": 3,
      "criteria": [
        {
          "code": "PM5",
          "strength": "moderate",
          "points": 2,
          "counted": true,
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 3
          },
          "related": {
            "allele": "CA019995",
            "hgvsP": "p.Cys697Tyr"
          }
        },
        {
          "code": "PM2",
          "strength": "supporting",
          "points": 1,
          "counted": true,
          "population": {
            "datasets": [
              "gnomad-exomes",
              "gnomad-genomes"
            ]
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "pathogenic",
            "stars": 3
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0005835",
        "name": "Lynch Syndrome",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000090883",
        "submissions": 1,
        "lastEvaluated": "2013-09-05",
        "expertPanel": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)"
      }
    ],
    "reports": [
      {
        "slug": "lynch-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0005835",
            "name": "Lynch Syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "lynch-syndrome",
      "name": "Lynch Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0005835",
          "name": "Lynch Syndrome",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/lynch-syndrome"
    }
  ]
}