R15S (p.Arg15Ser) variant of BARD1 (Q99728)
R15S (p.Arg15Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- rs1553628470
- ClinGen CA350465306
- ClinVar RCV000571317
- ClinVar RCV001858246
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.25
- 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 REMAINING population (allele frequency 1.7e-05)
- 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)