RUNX1 K83E

CI-VAR-00002182Explore in graph →NP_001001890.1:p.Lys83GluNM_001001890.2:c.247A>GClinVar 14465 CIViC 802 rs121912498

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 K83E	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID1871 A pedigree of 48 individuals with multiple instances of bleeding and platelet disorders and 8 cases of leukemia showed an A>G substitution in RUNX1 exon 3 which segregated with Familial Platelet Disor… (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
14465	Pathogenic	reviewed by expert panel	3	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	germline	4	May 27, 2026	clinvar