C27* (p.Cys27Ter) variant of BRCA1 (P38398)
C27* (p.Cys27Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements, published literature, and structural context.
C27* (p.Cys27Ter) variant details
- p.Cys27Ter
- rs587780805
- ClinGen CA10601991
- ClinVar RCV001076155
- gnomAD rs587780805
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -3.83
- 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)