G35A (p.Gly35Ala) variant of BRIP1 (Fanconi anemia group J protein)
G35A (p.Gly35Ala) 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 0.51 / 1. The record also includes published literature and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- rs876659168
- ClinGen CA10580894
- ClinVar RCV000217605
- ClinVar RCV006555702
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.99
- MetaLR 0.37
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- 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)