Variant · Snv
MAP2K1 P124S
CI-VAR-00003271Explore in graph →NP_002746.1:p.Pro124SerNM_002755.3:c.370C>TClinVar 375981 CIViC 82 rs1057519732
Curated evidence
Evidence by cancer (3 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
- 22197931
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm1 | ||||||||
| MAP2K1 P124S | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID12986MAP2K1 P124S was shown to constitutively activate ERK1/2 phosphorylation in the absence of serum in transiently transfected HEK293T cells (Fig 4a). In an NIH3T3 transformation assay (performed in trip… (full text at CIViC) PMID 22197931 · Nikolaev et al., 2011 · Open in CIViC | civic |
| Melanoma2 | ||||||||
| MAP2K1 P124S | Selumetinib | Predictive | D | Supports Resistance | 3 | accepted | EID12A375 cells expressing MAP2K1 P124S mutation conferred an approximately 5-fold increased resistance to selumetinib (AZD6244) induced growth inhibition when compared to untransduced cells, cells express… (full text at CIViC) PMID 19915144 · | |
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 |
|---|---|---|---|---|---|---|---|---|
| 375981 | Pathogenic | reviewed by expert panel | 3 | Noonan syndrome; Cardiofaciocutaneous syndrome 3; RASopathy; Spitz Melanocytoma; Metastatic melanoma; MAP2K1-related disorder | germline/somatic | 7 | Jan 10, 2025 | clinvar |