Variant · Insertion
FH NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
CI-VAR-00058552Explore in graph →p.Gln185fsNM_000143.4:c.553_554insTGClinVar 393565 rs768182640
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 |
|---|---|---|---|---|---|---|---|---|
| 393565 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary leiomyomatosis and renal cell cancer; Hereditary cancer-predisposing syndrome; Fumarase deficiency | germline | 7 | Oct 13, 2025 | clinvar |