R8G (p.Arg8Gly) variant of BRCA2 (P51587)
R8G (p.Arg8Gly) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs2138698171
- ClinGen CA387752961
- ClinVar RCV001958398
- ClinVar RCV004603100
- Uncertain significance
- Missense
- REVEL 0.15
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)