EP300 NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)

CI-VAR-00021102Explore in graph →p.Ser507GlyNM_001429.4:c.1519A>GClinVar 134065 rs146242251

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
134065	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Rubinstein-Taybi syndrome due to CREBBP mutations; Colorectal cancer; Menke-Hennekam syndrome 2; EP300-related disorder	germline	6	Feb 01, 2026	clinvar