FBN1 NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)

CI-VAR-00022369Explore in graph →p.Leu2499=NM_000138.5:c.7497A>GClinVar 137313 rs148516442

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
137313	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Familial thoracic aortic aneurysm and aortic dissection; Weill-Marchesani syndrome; Marfan syndrome; Geleophysic dysplasia; Stiff skin syndrome; Acromicric dysplasia; Ectopia lentis 1, isolated, autosomal dominant; Malignant tumor of esophagus	germline	11	Feb 01, 2026	clinvar