N9K (p.Asn9Lys) variant of BARD1 (Q99728)
N9K (p.Asn9Lys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial cancer of breast; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N9K (p.Asn9Lys) variant details
- p.Asn9Lys
- rs1038616344
- ClinGen CA350465399
- ClinVar RCV001308664
- TOPMed rs1038616344
- Uncertain significance
- not specified; Familial cancer of breast; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.12
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; Familial cancer of breast; Hereditary cancer-pred)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)