R8M (p.Arg8Met) variant of BRCA2 (P51587)
R8M (p.Arg8Met) 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 and published literature.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- rs2072261141
- ClinGen CA387752966
- ClinVar RCV003644641
- Uncertain significance
- Missense
- AlphaMissense 0.26
- MetaLR 0.02
- MetaSVM -1.16
- SIFT 0.00
- MutPred 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)