BMPR1A NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)

CI-VAR-00051818Explore in graph →p.Met500ValNM_004329.3:c.1498A>GClinVar 301353 rs376651641

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
301353	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Generalized juvenile polyposis/juvenile polyposis coli; Hereditary cancer-predisposing syndrome; Pulmonary arterial hypertension associated with congenital heart disease; Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2	germline	11	Dec 23, 2025	clinvar