Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of...
| Autores: | , |
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| Tipo de recurso: | conjunto de datos |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/270934 |
| Acceso en línea: | http://hdl.handle.net/10261/270934 https://doi.org/10.20350/digitalCSIC/14662 |
| Access Level: | acceso abierto |
| Palabra clave: | Splicing Breast cancer RAD51C Minigene Splicing assays |
| Sumario: | This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of 141 RAD51C variants at the intron/exon boundaries were analyzed with MaxEntScan. Twenty variants were selected and genetically engineered into a RAD51C splicing reporter minigene. We found that all the variants disrupted splicing and 16 of them could be classified as likely pathogenic. Hence, they are clinically actionable findings so variant-carriers may benefit from tailored prevention protocols and therapies. |
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