Variant · Snv
SRSF2 P95L
CI-VAR-00003430Explore in graph →NP_001182356.1:p.Pro95LeuNM_001195427.2:c.284C>TClinVar 2504111 CIViC 4303 rs751713049
Curated evidence
Evidence by cancer (2 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 26124281
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Myelodysplastic Syndrome1 | ||||||||
| SRSF2 P95L | (oncogenic) | Oncogenic | B | Supports Oncogenicity | 5 | submitted | EID12483The SRSF2 P95L mutation, located in the RNA recognition motif domain, is a statistically significant hotspot in myeloid malignancies. In vitro studies using HeLa and K562 cells show that P95L disrupts… (full text at CIViC) PMID 26124281 · Komeno et al., 2015 · Open in CIViC | civic |
| Myeloid Neoplasm1 | ||||||||
| SRSF2 P95L | CTX-712 | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID11027Several splicing factors known to drive myeloid neoplasms (including SRSF2) require phosphorylation by CLK family kinases for nuclear translocation. The authors describe development of an inhibiter o… (full text at CIViC) | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 2504111 | Pathogenic | no assertion criteria provided | 0 | Atypical chronic myeloid leukemia, BCR-ABL1 negative; Acute myeloid leukemia | somatic | 2 | Jun 08, 2023 | clinvar |