R18C (p.Arg18Cys) variant of BRCA2 (P51587)
R18C (p.Arg18Cys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs786201560
- ClinGen CA021988
- cosmic curated COSV10056
- ClinVar RCV000163880
- Likely benign
- Missense
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)