Annotation Detail

Information
Associated Genes
RAD51C
Associated Variants
RAD51C p.Arg12= (p.R12=) ( ENST00000583539.5, ENST00000421782.3, ENST00000461271.6, ENST00000337432.9, ENST00000697686.1, ENST00000697690.1 )
RAD51C p.Arg12= (p.R12=) ( ENST00000337432.9, ENST00000421782.3, ENST00000461271.6, ENST00000583539.5, ENST00000697686.1, ENST00000697690.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
478824
ClinVar RefSeq Alternation Syntax
NR_103872.2:n.78G>A
ClinVar RefSeq Alternation Syntax
NR_103873.1:n.107G>A
ClinVar RefSeq Alternation Syntax
NM_058216.3:c.36G>A
ClinVar RefSeq Alternation Syntax
NM_002876.4:c.36G>A
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2020-01-15
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000574908
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs