G25* (p.Gly25Ter) variant of BRCA2 (P51587)
G25* (p.Gly25Ter) in BRCA2 (P51587) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The record also includes variant effect predictions and published literature.
G25* (p.Gly25Ter) variant details
- p.Gly25Ter
- rs80358961
- ClinGen CA10589005
- ClinVar RCV000257648
- gnomAD rs80358961
- Pathogenic
- in BC
- Stop Gained
- AlphaMissense 0.92
- MetaLR 0.08
- MetaSVM -1.18
- SIFT 0.00
- MutPred 0.53
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- 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)