W31* (p.Trp31Ter) variant of BRCA2 (P51587)
W31* (p.Trp31Ter) 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, population frequency data, and published literature.
W31* (p.Trp31Ter) variant details
- p.Trp31Ter
- rs2138703748
- ClinGen CA2499222016
- ClinVar RCV001528202
- ClinVar RCV006467642
- Pathogenic
- in BC
- Stop Gained
- AlphaMissense 0.91
- MetaLR 0.08
- MetaSVM -1.18
- CADD 40.00
- SIFT 0.00
- MutPred 0.57
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)