SMAD4 NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)

CI-VAR-00007818Explore in graph →p.Arg380LysNM_005359.6:c.1139G>AClinVar 38283 rs377767353

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
38283	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and aortic dissection; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	germline	3	Oct 25, 2024	clinvar