G12C (p.Gly12Cys) variant of HRAS (GTPase HRas)
G12C (p.Gly12Cys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid cancer, nonmedullary, 2; Malignant tumor of urinary bladder; Large conge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs104894229
- ClinGen CA129948
- NCI-TCGA Cosmic COSV5423
- Pathogenic
- Thyroid cancer, nonmedullary, 2; Malignant tumor of urinary bladder; Large conge
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.11
- PolyPhen-2 0.85
- SIFT 0.02
- EVE 0.59
- ClinVar: Pathogenic (Thyroid cancer, nonmedullary, 2; Malignant tumor of urinary blad)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (PMID 16443854)
- Cited in: Severe neonatal manifestations of Costello syndrome. (PMID 18039947)