RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567785872
rs1567785872
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
T 0.700 CausalMutation CLINVAR
dbSNP: rs1567817516
rs1567817516
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C0919267
Disease:
ovarian neoplasm
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587780259
rs587780259
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
G 0.700 GeneticVariation CLINVAR
dbSNP: rs587781490
rs587781490
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
T 0.700 CausalMutation CLINVAR
dbSNP: rs730881939
rs730881939
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
TA 0.700 CausalMutation CLINVAR
dbSNP: rs768793789
rs768793789
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
GC 0.700 CausalMutation CLINVAR
dbSNP: rs767796996
rs767796996
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
0.010 GeneticVariation BEFREE The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. 27622768 2017
dbSNP: rs587782818
rs587782818
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease:
ovarian neoplasm
0.010 GeneticVariation BEFREE Three novel protein-truncating mutations, c.204T>A, c.225T>G, and c.701C>G, were identified. c.204T>A was found in one out of 22 (4.5 %) early-onset (≤45 years of age) ovarian cancer patients and c.225T>G in one out of 119 (0.8 %) patients from breast cancer only families. c.701C>G was found in a 60-year-old control with no family history of breast/ovarian cancer. 24800917 2014