C2070Y (p.Cys2070Tyr) variant of FBN1 (Fibrillin-1)
C2070Y (p.Cys2070Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
C2070Y (p.Cys2070Tyr) variant details
- p.Cys2070Tyr
- rs1060501044
- ClinGen CA392337145
- ClinVar RCV002036675
- ClinVar RCV002352775
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- MutPred 0.97
- ClinVar: Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- 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)