NPM1 W288FS

CI-VAR-00004690Explore in graph →NP_002511.1:p.Trp288CysfsNM_002520.6:c.860_863dupTCTGClinVar 13998 CIViC 87 rs587776806

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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
Acute Myeloid Leukemia5
NPM1 W288FS	(diagnostic)	Diagnostic	A	Supports Positive	5	rejected	EID1510 In a study of 1,540 patients with Acute Myeloid Leukemia, 418(27%) had mutations in NPM1, mostly W288fs, and there was a preferential co-mutation with NRAS(G12/13), however there was no co-mutation as… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC	civic
NPM1 W288FS	(prognostic)	Prognostic	B	Does Not Support Better Outcome	2	accepted	EID109 No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients). PMID 21067377 · Ley et al., 2010 · Open in CIViC	civic
NPM1 W288FS	(prognostic)

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
13998	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Acute myeloid leukemia; Myelodysplastic syndrome progressed to acute myeloid leukemia; NPM1-related disorder	germline/somatic	5	Aug 28, 2024	clinvar

Unmapped disease1unmapped disease
NPM1 W288FS	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID13228 Knock-in mouse model revealed that for heterozygous (Npm1(wt/c+) mice with the c.854_857dupTCTG (mimics p.W288fs in humans), a majority of mice developed monocytosis, increased myeloid precursors, and… (full text at CIViC) PMID 23226219 · Chou et al., 2012 · Open in CIViC	civic