EP300 NM_001429.4(EP300):c.6481A>G (p.Met2161Val)

CI-VAR-00021101Explore in graph →p.Met2161ValNM_001429.4:c.6481A>GClinVar 134049 rs188035979

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
134049	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Menke-Hennekam syndrome 2; Colorectal cancer; Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300-related disorder	germline	7	Jan 28, 2026	clinvar