R5C (p.Arg5Cys) variant of FBN1 (Fibrillin-1)
R5C (p.Arg5Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions, population frequency data, and published literature.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs759323371
- ClinGen CA044582
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57326
- Conflicting interpretations
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.12
- MetaLR 0.34
- MetaSVM -0.56
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)