RUNX1 T148HFSX9

CI-VAR-00004274Explore in graph →NP_001745.2:p.Thr148HisfsNM_001754.4:c.442_449delACCGCAGCClinVar 14470 CIViC 810 rs587776811

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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
Acute Myeloid Leukemia1
RUNX1 T148HFSX9	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID1882 A 2 year old male presented with easy bruising and bleeding. At 6 years old he was diagnosed with AML. The patients mother showed mile thrombocytopenia. Sequencing of RUNX1 exons 3-6 revealed an 8 bp … (full text at CIViC) PMID 18478040 · Béri-Dexheimer et al., 2008 · 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
14470	Pathogenic	reviewed by expert panel	3	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	germline	2	Mar 26, 2024	clinvar