Q12* (p.Gln12Ter) variant of BRCA1 (P38398)
Q12* (p.Gln12Ter) in BRCA1 (P38398) 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 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs80357134
- ClinGen CA002251
- ClinVar RCV000111614
- ClinVar RCV000412855
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.13
- CADD 37.00
- PolyPhen-2 0.15
- SIFT 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.036
- 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)