T21M (p.Thr21Met) variant of FBN1 (Fibrillin-1)
T21M (p.Thr21Met) 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; not sp. The record also includes variant effect predictions, population frequency data, and published literature.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- rs1489806847
- ClinGen CA392453797
- ClinVar RCV001180957
- ClinVar RCV001194175
- Conflicting interpretations
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not sp
- Missense
- REVEL 0.36
- MetaLR 0.35
- MetaSVM -0.41
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)