{
  "url": "https://dantelabs.com/genes/pms2/variants/l42-e44del",
  "gene": {
    "slug": "pms2",
    "symbol": "PMS2",
    "hgnc": "HGNC:9122",
    "url": "https://dantelabs.com/genes/pms2"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "pms2",
      "symbol": "PMS2",
      "hgnc": "HGNC:9122"
    },
    "slug": "l42-e44del",
    "name": "L42_E44del",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "leu42-glu44del",
      "c-123to131del",
      "rs863224676",
      "ca336478"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA336478",
      "rsIds": [
        "rs863224676"
      ],
      "clinvarVariationId": 216449,
      "vcv": "VCV000216449",
      "clinvarAlleleId": 212611
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "7",
        "pos": 6005923,
        "ref": "TTCTACTAAC",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "7",
        "pos": 6045554,
        "ref": "TTCTACTAAC",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000535.7",
      "maneSelect": true,
      "hgvsC": "c.123_131del",
      "hgvsP": "p.Leu42_Glu44del",
      "consequences": [
        "disruptive_inframe_deletion"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0005835",
        "name": "Lynch Syndrome",
        "classification": "likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000216449",
        "submissions": 2,
        "lastEvaluated": "2024-07-29"
      },
      {
        "mondoId": "MONDO:0013699",
        "name": "Lynch syndrome 4",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000216449",
        "submissions": 3,
        "lastEvaluated": "2026-03-27"
      }
    ],
    "reports": [
      {
        "slug": "lynch-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0005835",
            "name": "Lynch Syndrome",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": [
      {
        "id": "giab:low_mappability",
        "label": "Low mappability"
      },
      {
        "id": "giab:segdups",
        "label": "Segmental duplications"
      }
    ]
  },
  "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"
    }
  ]
}