SMAD4 NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)

CI-VAR-00024060Explore in graph →p.Asp415GlufsNM_005359.6:c.1245_1248delClinVar 142253 rs80338965

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
142253	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Carcinoma of colon; Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissection; SMAD4-related disorder	germline	20	Dec 15, 2025	clinvar