S38N (p.Ser38Asn) variant of BRIP1 (Fanconi anemia group J protein)
S38N (p.Ser38Asn) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- rs1555618429
- ClinGen CA400485848
- NCI-TCGA Cosmic COSV5199
- ClinVar RCV000572926
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-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)