Variant · Deletion
NBN NM_002485.5(NBN):c.657_661del (p.Lys219fs)
CI-VAR-00005652Explore in graph →p.Lys219fsNM_002485.5:c.657_661delClinVar 6940 rs587776650
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 6940 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Breast-ovarian cancer, familial, susceptibility to, 1; Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predisposing syndrome; Lissencephaly; Microcephaly; Breast and/or ovarian cancer; Familial cancer of breast; Carcinoma of pancreas; Malignant tumor of breast; Breast carcinoma; Hepatocellular carcinoma; Aplastic anemia; NBN-related disorder; Familial prostate cancer; Acute lymphoid leukemia; Paediatric disorders | germline | 47 | Jun 02, 2026 | clinvar |