C24* (p.Cys24Ter) variant of BRCA1 (P38398)
C24* (p.Cys24Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
C24* (p.Cys24Ter) variant details
- p.Cys24Ter
- rs1597923232
- ClinGen CA10602013
- ClinVar RCV001077755
- ClinVar RCV005093446
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.45
- 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)