Variant · Snv
PLEC NM_201384.3(PLEC):c.4014C>T (p.Ser1338=)
CI-VAR-00096515Explore in graph →p.Ser1338=NM_201384.3:c.4014C>TClinVar 539024 rs145555539
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 |
|---|---|---|---|---|---|---|---|---|
| 539024 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Epidermolysis bullosa simplex, Ogna type; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex 5C, with pyloric atresia; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex with nail dystrophy; Clear cell carcinoma of kidney; Acute myeloid leukemia | germline | 3 | Feb 01, 2026 | clinvar |