T9A (p.Thr9Ala) variant of BRIP1 (Fanconi anemia group J protein)
T9A (p.Thr9Ala) 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; Familial cancer of breast; Fanconi anem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- rs2078973246
- ClinGen CA400486047
- ClinVar RCV001069461
- ClinVar RCV002429737
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- CADD 25.80
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- 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)