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Variants & evidence
5 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| BRAF G469S1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | submitted | EID12460In an 11-year-old female presenting with seizures, a mixed MVNT with a ganglioglioma-like component located in the left temporal lobe revealed a BRAF p.G469S mutation (NM_004333.6:c.1405_1406delinsTC;… (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| BRAF L597R1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | submitted | EID12459In a 54-year-old female with chronic headache and a right temporal lobe MVNT, NGS (479-gene panel) identified a BRAF p.L597R mutation (NM_004333.6:c.1790T>G; VAF 5%). PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| BRAF Mutation + FGFR2 Fusion + MAP2K1 MutationBRAFFGFR2MAP2K11 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 3 | submitted | EID12458Eight MVNT cases (6 pure MVNT and 2 with ganglioglioma-like features) were examined, comprising 4 males and 4 females aged 11–63 years (median 39). Tumors were localized to the temporal lobe (n=7) or … (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| MAP2K1 Q56_G61delinsL1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | submitted | EID12462A 43-year-old male with chronic headache was found to have a left frontal multinodular and vacuolating neuronal tumor (MVNT). NGS targeting 479 cancer-associated genes identified a MAP2K1 in-frame ind… (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
| MAP2K1 Q56P1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | submitted | EID12461NGS targeting 479 cancer-associated genes were performed on two MVNT cases: a 63-year-old female with left-hand paresthesia and a 54-year-old male with long-standing epilepsy, both located in the righ… (full text at CIViC) PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC | civic |
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.