RUNX1 · rs2056452818
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What ClinVar records
Classification
Likely benign for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Inborn genetic diseases; reviewed by expert panel (3 of 4 stars, 3 submitters), last evaluated 2026-04-29.
ClinVar record 1652693 NM_001754.5(RUNX1):c.1242C>T (p.Tyr414=)
Classification
Pathogenic for Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Inborn genetic diseases, RUNX1-related disorder; reviewed by expert panel (3 of 4 stars, 5 submitters), last evaluated 2025-07-11.
ClinVar record 1194557 NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
Source: ClinVar VCV001194557, reviewed by expert panel
rs2056452818 is a single position in the genome, in or near the RUNX1 gene. Published research associates it with hereditary thrombocytopenia and hematologic cancer predisposition syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
ClinVar VCV001194557, reviewed by expert panel. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome (rs2056452818). MyGeneLog™. https://www.mygenelog.com/variants/rs2056452818