C2192Y (p.Cys2192Tyr) variant of FBN1 (Fibrillin-1)
C2192Y (p.Cys2192Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr. The record also includes variant effect predictions and published literature.
C2192Y (p.Cys2192Tyr) variant details
- p.Cys2192Tyr
- rs2043050838
- ClinGen CA392334857
- ClinVar RCV001206012
- ClinVar RCV006270473
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)