G6R (p.Gly6Arg) variant of PALB2 (Partner and localizer of BRCA2)
G6R (p.Gly6Arg) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1967234587
- ClinGen CA395141196
- ClinVar RCV001322515
- ClinVar RCV005692323
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.02
- PolyPhen-2 0.57
- SIFT 0.12
- MutPred 0.17
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Likely benign
- UniProt: Likely benign
- 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)