G562R (p.Gly562Arg) variant of PALB2 (Partner and localizer of BRCA2)
G562R (p.Gly562Arg) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The record also includes variant effect predictions, published literature, and structural context.
G562R (p.Gly562Arg) variant details
- p.Gly562Arg
- rs786202239
- ClinGen CA192164
- ClinVar RCV000164956
- ClinVar RCV000686970
- Likely pathogenic
- Familial cancer of breast
- Missense
- MutPred 0.27
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)