Variant · Snv
NBN NM_002485.5(NBN):c.939G>A (p.Ala313=)
CI-VAR-00022030Explore in graph →p.Ala313=NM_002485.5:c.939G>AClinVar 136048 rs145750430
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 |
|---|---|---|---|---|---|---|---|---|
| 136048 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and immunodeficiency; Acute lymphoid leukemia; Hereditary breast ovarian cancer syndrome | germline | 13 | Feb 03, 2026 | clinvar |