C2210Y (p.Cys2210Tyr) variant of FBN1 (Fibrillin-1)
C2210Y (p.Cys2210Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy. The record also includes variant effect predictions and published literature.
C2210Y (p.Cys2210Tyr) variant details
- p.Cys2210Tyr
- rs2141235242
- ClinGen CA392333701
- ClinVar RCV002249985
- ClinVar RCV002272576
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: 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)