C315R (p.Cys315Arg) variant of FBN1 (Fibrillin-1)
C315R (p.Cys315Arg) 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; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy. The record also includes variant effect predictions, population frequency data, and published literature.
C315R (p.Cys315Arg) variant details
- p.Cys315Arg
- rs2505640756
- ClinGen CA392349900
- ClinVar RCV003012208
- Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy
- Missense
- REVEL 1.00
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)