Variant · Snv
NBN NM_002485.5(NBN):c.511A>G (p.Ile171Val)
CI-VAR-00005655Explore in graph →p.Ile171ValNM_002485.5:c.511A>GClinVar 6946 rs61754966
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 |
|---|---|---|---|---|---|---|---|---|
| 6946 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Leukemia, acute lymphoblastic, susceptibility to; Aplastic anemia; Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and immunodeficiency; Acute lymphoid leukemia; Hereditary breast ovarian cancer syndrome; Breast carcinoma; Carcinoma of colon; Hereditary cancer; NBN-related disorder; Diffuse midline glioma, H3 K27-altered; Pediatric high-grade glioma | germline | 31 | Jun 01, 2026 | clinvar |