{
  "retrieved": "2026-09-08",
  "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=clinvar&id=4600147&retmode=json",
  "warning": "Same protein substitution; different DNA allele from project c.3006T>G. Not functional evidence.",
  "response": {
    "header": {
      "type": "esummary",
      "version": "0.3"
    },
    "result": {
      "uids": [
        "4600147"
      ],
      "4600147": {
        "uid": "4600147",
        "obj_type": "single nucleotide variant",
        "accession": "VCV004600147",
        "accession_version": "VCV004600147.1",
        "title": "NM_001211.6(BUB1B):c.3006T>A (p.Asn1002Lys)",
        "variation_set": [
          {
            "measure_id": "4719833",
            "variation_xrefs": [],
            "variation_name": "NM_001211.6(BUB1B):c.3006T>A (p.Asn1002Lys)",
            "cdna_change": "c.3006T>A",
            "aliases": [],
            "variation_loc": [
              {
                "status": "current",
                "assembly_name": "GRCh38",
                "chr": "15",
                "band": "15q15.1",
                "start": "40220612",
                "stop": "40220612",
                "inner_start": "",
                "inner_stop": "",
                "outer_start": "",
                "outer_stop": "",
                "display_start": "40220612",
                "display_stop": "40220612",
                "assembly_acc_ver": "GCF_000001405.38",
                "annotation_release": "",
                "alt": "",
                "ref": ""
              },
              {
                "status": "previous",
                "assembly_name": "GRCh37",
                "chr": "15",
                "band": "15q15.1",
                "start": "40512813",
                "stop": "40512813",
                "inner_start": "",
                "inner_stop": "",
                "outer_start": "",
                "outer_stop": "",
                "display_start": "40512813",
                "display_stop": "40512813",
                "assembly_acc_ver": "GCF_000001405.25",
                "annotation_release": "",
                "alt": "",
                "ref": ""
              }
            ],
            "allele_freq_set": [],
            "variant_type": "single nucleotide variant",
            "canonical_spdi": "NC_000015.10:40220611:T:A",
            "common_name": ""
          }
        ],
        "supporting_submissions": {
          "scv": [
            "SCV007198955"
          ],
          "rcv": [
            "RCV006331804"
          ]
        },
        "germline_classification": {
          "description": "Uncertain significance",
          "last_evaluated": "2025/09/19 00:00",
          "review_status": "criteria provided, single submitter",
          "fda_recognized_database": "",
          "trait_set": [
            {
              "trait_xrefs": [
                {
                  "db_source": "MedGen",
                  "db_id": "C0950123"
                },
                {
                  "db_source": "MeSH",
                  "db_id": "D030342"
                }
              ],
              "trait_name": "Inborn genetic diseases"
            }
          ]
        },
        "clinical_impact_classification": {
          "description": "",
          "last_evaluated": "1/01/01 00:00",
          "review_status": "",
          "fda_recognized_database": "",
          "trait_set": []
        },
        "oncogenicity_classification": {
          "description": "",
          "last_evaluated": "1/01/01 00:00",
          "review_status": "",
          "fda_recognized_database": "",
          "trait_set": []
        },
        "record_status": "",
        "gene_sort": "BUB1B",
        "chr_sort": "15",
        "location_sort": "00000000000040220612",
        "variation_set_name": "",
        "variation_set_id": "",
        "genes": [
          {
            "symbol": "BUB1B",
            "geneid": "701",
            "strand": "+",
            "source": "submitted"
          },
          {
            "symbol": "BUB1B-PAK6",
            "geneid": "106821730",
            "strand": "+",
            "source": "submitted"
          }
        ],
        "molecular_consequence_list": [
          "missense variant",
          "intron variant"
        ],
        "protein_change": "N1002K",
        "fda_recognized_database": ""
      }
    }
  }
}