ACVR1 G328V

CI-VAR-00001710Explore in graph →NP_001096.1:p.Gly328ValNM_001105.4:c.983G>TClinVar 376363 CIViC 1686 rs387906589

Curated evidence

Evidence by cancer (4 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 1–4 of 4 evidence items across 1 cancer context 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
Diffuse Midline Glioma, H3 K27-Altered4
ACVR1 G328V	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID6955 In a study sequencing 61 patients (median age 6.3) with diffuse intrinsic pontine glioma (DIPG), 12 variants affecting ACVR1 were observed. Five patients had G328V within the kinase domain. The ACVR1 … (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC	civic
ACVR1 G328V	(diagnostic)	Diagnostic	C	Supports Positive	2	accepted	EID10011 It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC	civic

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
376363	-	-	—	Diffuse midline glioma, H3 K27M-mutant; Embryonal rhabdomyosarcoma	somatic	2	—	clinvar