S22F (p.Ser22Phe) variant of BARD1 (Q99728)
S22F (p.Ser22Phe) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- rs876659724
- ClinGen CA10577867
- ClinVar RCV000221004
- ClinVar RCV001057783
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)