EP300 NM_001429.4(EP300):c.104_107del (p.Ser35fs)

CI-VAR-00022389Explore in graph →p.Ser35fsNM_001429.4:c.104_107delClinVar 137620 rs886037664

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
137620	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Neurodevelopmental delay; Menke-Hennekam syndrome 2; Colorectal cancer; Rubinstein-Taybi syndrome due to CREBBP mutations; EP300-related disorder	germline	9	Jul 15, 2024	clinvar