RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart. 26354865 2015
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 24141787 2014
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 22167183 2012
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1555605074
rs1555605074
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 GeneticVariation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075 2017
dbSNP: rs587781410
rs587781410
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075 2017
dbSNP: rs587781410
rs587781410
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. 28905878 2017
dbSNP: rs767796996
rs767796996
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. 27622768 2017
dbSNP: rs770637624
rs770637624
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932 2017
dbSNP: rs1060502601
rs1060502601
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
dbSNP: rs200293302
rs200293302
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer. 26740214 2016
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients. 27328445 2016
dbSNP: rs587780259
rs587780259
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587781410
rs587781410
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587781490
rs587781490
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs587781490
rs587781490
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
dbSNP: rs587781995
rs587781995
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
dbSNP: rs587781995
rs587781995
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs587782528
rs587782528
Entrez Id: 5889;56155
Gene Symbol: RAD51C;TEX14
RAD51C;TEX14
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs730881931
rs730881931
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs730881939
rs730881939
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		TA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs730881939
rs730881939
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		TA 0.700 CausalMutation CLINVAR Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair. 26848151 2016
dbSNP: rs730881941
rs730881941
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016