G24A (p.Gly24Ala) variant of FBN1 (Fibrillin-1)
G24A (p.Gly24Ala) 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.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- rs768993489
- ClinGen CA058005
- ClinVar RCV001365363
- ClinVar RCV006548216
- Conflicting interpretations
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.71
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)