| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | 31131967 | 2019 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. | 26913838 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. | 23451180 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. | 23451180 | 2013 |
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|
T | 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 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. | 22962691 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. | 21934105 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | 21523855 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | BRCA2 splice site mutations in an Italian breast/ovarian cancer family. | 19542536 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | An unusual BRCA2 allele carrying two splice site mutations. | 19423647 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. | 19179552 | 2009 |