R117G (p.Arg117Gly) variant of CHEK2 (O96017)
R117G (p.Arg117Gly) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CHEK2-related disorder; CHEK2-related cancer predisposition; Familial prostate c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R117G (p.Arg117Gly) variant details
- p.Arg117Gly
- rs28909982
- ClinGen CA288301
- cosmic curated COSV10440
- ClinVar RCV000116012
- Pathogenic/Likely pathogenic
- CHEK2-related disorder; CHEK2-related cancer predisposition; Familial prostate c
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (CHEK2-related disorder; CHEK2-related cancer predisposition; Fam)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. (PMID 12454775)
- Cited in: Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. (PMID 12610780)