F15C (p.Phe15Cys) variant of BRCA2 (P51587)
F15C (p.Phe15Cys) 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.
F15C (p.Phe15Cys) variant details
- p.Phe15Cys
- rs2072261809
- ClinGen CA387753041
- ClinVar RCV001067522
- Ensembl rs2072261809
- Uncertain significance
- Missense
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)