MFAP5 NM_003480.4(MFAP5):c.12G>A (p.Leu4=)

CI-VAR-00057247Explore in graph →p.Leu4=NM_003480.4:c.12G>AClinVar 390582 rs148879406

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
390582	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Cardiovascular phenotype; MFAP5-related disorder; Familial cancer of breast; Aortic aneurysm, familial thoracic 9	germline	9	Jul 31, 2026	clinvar