Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040914
rs886040914
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886040913
rs886040913
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80358345
rs80358345
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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

dbSNP: rs80358345
rs80358345
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing. 25136594

2014

dbSNP: rs80358345
rs80358345
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716

2003

dbSNP: rs80358345
rs80358345
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. 12955719

2003

dbSNP: rs80358189
rs80358189
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358158
rs80358158
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358152
rs80358152
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80358131
rs80358131
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80358116
rs80358116
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80358108
rs80358108
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80358096
rs80358096
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80358089
rs80358089
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. 16619214

2006

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site. 10406662

1999

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 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

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. 18693280

2009

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011

dbSNP: rs80358087
rs80358087
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. 23239986

2012

dbSNP: rs80358086
rs80358086
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80358082
rs80358082
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80358079
rs80358079
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358073
rs80358073
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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

dbSNP: rs80358073
rs80358073
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. 9354803

1997