T27K (p.Thr27Lys) variant of RAD51D (O75771)
T27K (p.Thr27Lys) in RAD51D (O75771) 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, 4; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- rs139642328
- ClinGen CA16615737
- ClinVar RCV000473688
- ClinVar RCV000568530
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.38
- CADD 27.20
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- 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)