M1I (p.Met1Ile) variant of RAD51C (O43502)
M1I (p.Met1Ile) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome; Fanconi anemia complementation group. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs769053886
- ClinGen CA337230
- ClinVar RCV000197479
- ClinVar RCV000567881
- Uncertain significance
- Hereditary breast ovarian cancer syndrome; Fanconi anemia complementation group
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- MetaLR 0.05
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.62
- MutPred 0.97
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome; Fanconi anemia comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)