G92R (p.Gly92Arg) variant of FBN1 (Fibrillin-1)
G92R (p.Gly92Arg) 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.
G92R (p.Gly92Arg) variant details
- p.Gly92Arg
- rs2140734026
- ClinGen CA392447059
- ClinVar RCV002034611
- ClinVar RCV002246024
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.86
- SIFT 0.00
- MutPred 0.43
- 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)