| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | 28339459 | 2017 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. | 28905878 | 2017 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Poly(ADP-Ribose) Mediates the BRCA2-Dependent Early DNA Damage Response. | 26489468 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Functional assays for analysis of variants of uncertain significance in BRCA2. | 24323938 | 2014 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. | 21120943 | 2011 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | 21523855 | 2011 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. | 15695382 | 2005 |