TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)

CI-VAR-00008571Explore in graph →p.Val387MetNM_003242.6:c.1159G>AClinVar 44651 rs35766612

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
44651	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Congenital aneurysm of ascending aorta; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome; Marfan syndrome; Thoracic aortic dissection; Thoracic aortic aneurysm; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6; Ehlers-Danlos syndrome; Malignant tumor of esophagus; TGFBR2-related disorder	germline	21	Mar 01, 2026	clinvar