ACVR1 Gain-of-Function

CI-VAR-00001859Explore in graph →CIViC 2061

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.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Anaplastic Astrocytoma1
ACVR1 Gain-of-Function	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID4845 The authors used whole exome sequencing on 39 midline pediatric high-grade astrocytomas (pHGAs) and identified 5 with mutations in ACVR1, with 2 occurring at G328 (G328V and G328E). The authors state … (full text at CIViC) PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC	civic
Diffuse Midline Glioma, H3 K27-Altered1
ACVR1 Gain-of-Function	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID4846 Sequencing of 39 pediatric midline high-grade astrocytomas identified 5 patients with ACVR1 mutations. The authors identified an increase in endogenous phospho-SMAD1/5/8 signal in diffuse intrinsic po… (full text at CIViC) PMID 24705250 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.