G4* (p.Gly4Ter) variant of BRCA2 (P51587)
G4* (p.Gly4Ter) in BRCA2 (P51587) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
G4* (p.Gly4Ter) variant details
- p.Gly4Ter
- rs397507571
- ClinGen CA010813
- cosmic curated COSV10465
- ClinVar RCV000239090
- Pathogenic
- Stop Gained
- AlphaMissense 0.21
- MetaLR 0.00
- MetaSVM -0.92
- SIFT 0.03
- MutPred 0.18
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)