RUNX1 Y260*

CI-VAR-00004794Explore in graph →NP_001001890.1:p.Tyr260TerNM_001001890.2:c.780C>AClinVar 14467 CIViC 803 rs121912499

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 Y260*	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID1872 A pedigree (Pedigree number 3) with 24 members with multiple instances of bleeding disorder and three cases of familial leukemia showed a C>A substitution in exon 7B of the transcription factor RUNX1.… (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · 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
14467	Pathogenic	reviewed by expert panel	3	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	germline	3	Mar 26, 2024	clinvar