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 benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. 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
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- EBI: Benign
- UniProt: Benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -2.2
- 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)