V29A (p.Val29Ala) variant of RAD51D (O75771)
V29A (p.Val29Ala) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- rs1567735899
- ClinGen CA399092030
- ClinVar RCV000709455
- ClinVar RCV000792440
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.03
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary breast ovari)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)