Q6* (p.Gln6Ter) variant of BARD1 (Q99728)
Q6* (p.Gln6Ter) in BARD1 (Q99728) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs876658234
- ClinGen CA350465459
- cosmic curated COSV10941
- ClinVar RCV001938338
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)