S28N (p.Ser28Asn) variant of BRCA2 (P51587)
S28N (p.Ser28Asn) 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, population frequency data, and published literature.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- rs1064793060
- ClinGen CA16619635
- ClinVar RCV000478054
- ClinVar RCV000571400
- Uncertain significance
- Missense
- REVEL 0.26
- AlphaMissense 0.64
- MetaLR 0.02
- MetaSVM -1.09
- CADD 25.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)