D2N (p.Asp2Asn) variant of PALB2 (Partner and localizer of BRCA2)
D2N (p.Asp2Asn) in PALB2 (Partner and localizer of BRCA2) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs1224301730
- ClinGen CA395141265
- ClinVar RCV002343054
- ClinVar RCV004572294
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.32
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)