C154Y (p.Cys154Tyr) variant of FBN1 (Fibrillin-1)
C154Y (p.Cys154Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes variant effect predictions and published literature.
C154Y (p.Cys154Tyr) variant details
- p.Cys154Tyr
- rs1057521103
- ClinGen CA392446379
- ClinVar RCV003779426
- ClinVar RCV004697311
- Likely pathogenic
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- EBI: Likely pathogenic (in MFS)
- UniProt: Likely pathogenic (in MFS)
- 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)