Variant · Snv
FANCD2 NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
CI-VAR-00021257Explore in graph →p.Ile172MetNM_001018115.3:c.516A>GClinVar 134327 rs35173688
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 134327 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Fanconi anemia; Fanconi anemia complementation group D2; Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome | germline | 12 | Feb 01, 2026 | clinvar |