N18K (p.Asn18Lys) variant of BARD1 (Q99728)
N18K (p.Asn18Lys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- rs587780032
- ClinGen CA287549
- ClinVar RCV000115636
- ClinVar RCV000535960
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)