G25R (p.Gly25Arg) variant of BRCA2 (P51587)
G25R (p.Gly25Arg) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The record also includes variant effect predictions, population frequency data, and published literature.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs80358961
- UniProt VAR 028167
- gnomAD rs80358961
- ClinGen CA025054
- Pathogenic
- in BC
- Missense
- REVEL 0.37
- AlphaMissense 0.92
- MetaLR 0.08
- MetaSVM -1.18
- CADD 26.80
- PolyPhen-2 1.00
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the South Asian population (allele frequency 0.00044)
- Cited in: Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. (PMID 16793542)
- Cited in: Germline brca2 sequence variants in patients with ocular melanoma. (PMID 10399947)