D2N (p.Asp2Asn) variant of BRCA1 (P38398)
D2N (p.Asp2Asn) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs778775133
- ClinGen CA056202
- ClinVar RCV001077624
- ClinVar RCV005520432
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.57
- MetaSVM 0.19
- CADD 24.90
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.25
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)