E34* (p.Glu34Ter) variant of BRCA2 (P51587)
E34* (p.Glu34Ter) 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.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs80358391
- ClinGen CA010238
- ClinVar RCV000043711
- ClinVar RCV000113128
- Pathogenic
- Stop Gained
- AlphaMissense 0.68
- MetaLR 0.05
- MetaSVM -1.24
- SIFT 0.00
- MutPred 0.22
- 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)