← Lymphatic Malformation Variant Atlas

HRAS A59_Q61delinsGGSIL

c.176_182delinsGAGGATCCATACT NM_005343.4 RAS-MAPK indel, gain of function

Cancer hotspot Not a hotspot protein altering variant. Genome Nexus / cancerhotspots.org

Population · gnomAD — gnomAD v4

ClinVar Not in ClinVar no exact-match submission

Protein region switch II Residue 59 of HRAS. UniProt P01112

Position in HRAS 3 catalogued

Reported in KLA

ISSVA subset	Allele fraction	Sources
KLA	lesional	PMID35202617

Pathway and targeted therapy

Driver of the RAS-MAPK pathway. Repurposed drugs already used in the clinic for this pathway: trametinib and other MEK inhibitors.

Open and recent trials (8 in vascular / lymphatic anomalies for trametinib)

Trametinib Treatment for Complicated Vascular Anomalies ACTIVE NOT RECRUITING NCT07072403 · PHASE1, PHASE2
24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs ACTIVE NOT RECRUITING NCT07549646 · PHASE2
Pilot Study on Trametinib for Surgical Unruptured AVMs WITHDRAWN NCT06098872 · PHASE2
A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia RECRUITING NCT05849662 · PHASE1, PHASE2
TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer RECRUITING NCT02693535 · PHASE2
Pediatric Long-Term Follow-up and Rollover Study ACTIVE NOT RECRUITING NCT03975829 · PHASE4

Primary sources (1)

Cellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity.
Allen-Rhoades W, Al-Ibraheemi A, Kohorst M, Tollefson M, Hull N, Polites S, Folpe AL. · Hum Pathol · 2022

Mentioned in 1 publications indexed by Europe PMC.

Cross-references

gnomAD · HRAS ClinVar · A59_Q61delinsGGSIL OncoKB cBioPortal · HRAS UniProt · HRAS AlphaFold · HRAS