G1029C (p.Gly1029Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
G1029C (p.Gly1029Cys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection; Eh. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1029C (p.Gly1029Cys) variant details
- p.Gly1029Cys
- rs1430509325
- ClinGen CA349844979
- ClinVar RCV003633344
- ClinVar RCV004701804
- Likely pathogenic
- Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection; Eh
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.93
- CADD 33.00
- ClinVar: Likely pathogenic (Familial aortopathy; Familial thoracic aortic aneurysm and aorti)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)