S38G (p.Ser38Gly) variant of BRIP1 (Fanconi anemia group J protein)
S38G (p.Ser38Gly) 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 Familial cancer of breast; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- rs2145852551
- ClinGen CA400485849
- ClinVar RCV001931971
- Ensembl rs2145852551
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.01
- SIFT 0.19
- EVE 0.19
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- 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)