R13T (p.Arg13Thr) variant of BARD1 (Q99728)
R13T (p.Arg13Thr) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R13T (p.Arg13Thr) variant details
- p.Arg13Thr
- rs587781713
- ClinGen CA16617463
- ClinVar RCV000481983
- ClinVar RCV000701419
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.20
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)