T5M (p.Thr5Met) variant of RAD51C (O43502)
T5M (p.Thr5Met) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- rs201523760
- ClinGen CA288621
- cosmic curated COSV53625
- ClinVar RCV000116172
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.0657
- REVEL 0.04
- CADD 6.94
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)