S28G (p.Ser28Gly) variant of BRCA2 (P51587)
S28G (p.Ser28Gly) 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.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- rs864622464
- ClinGen CA349344
- ClinVar RCV000205144
- ClinVar RCV002291594
- Uncertain significance
- Missense
- AlphaMissense 0.42
- MetaLR 0.02
- MetaSVM -1.16
- SIFT 0.00
- MutPred 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)