Variant · Snv
PMFBP1 NM_031293.3(PMFBP1):c.1654C>G (p.Leu552Val)
CI-VAR-00339159Explore in graph →p.Leu552ValNM_031293.3:c.1654C>GClinVar 3050517 rs144092086
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 3050517 | Likely benign | criteria provided, single submitter | 1 | PMFBP1-related disorder; Malignant tumor of esophagus; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Gastric cancer; Ovarian serous cystadenocarcinoma | germline | 3 | Sep 01, 2025 | clinvar |