SMAD4 NM_005359.6(SMAD4):c.747G>C (p.Gln249His)

CI-VAR-00131331Explore in graph →p.Gln249HisNM_005359.6:c.747G>CClinVar 761576 rs372095620

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
761576	Likely benign	criteria provided, multiple submitters, no conflicts	2	Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and aortic dissection; SMAD4-related disorder	germline	7	Feb 16, 2025	clinvar