E13* (p.Glu13Ter) variant of BRCA2 (P51587)
E13* (p.Glu13Ter) 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, population frequency data, and published literature.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs80359393
- ClinGen CA018441
- ClinVar RCV000082917
- ClinVar RCV000486380
- Pathogenic
- Stop Gained
- CADD 30.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)