A34T (p.Ala34Thr) variant of RAD51D (O75771)
A34T (p.Ala34Thr) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp. The record also includes published literature and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs1555570419
- ClinGen CA399091967
- ClinVar RCV000649690
- ClinVar RCV004025788
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)