RAD51C |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RAD51C (HGNC:9820) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RAD51 paralog C
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- RAD51L2, FANCO
- %HI
- 9.19(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.49(Read more about gnomAD LOEUF score)
- Cytoband
- 17q22
- Genomic Coordinates
-
GRCh37/hg19: chr17:56769934-56812972 NCBI Ensembl UCSC GRCh38/hg38: chr17:58692573-58735611 NCBI Ensembl UCSC - MANE Select Transcript
- NM_058216.3 ENST00000337432.9 (Read more about MANE Select)
- Function
- Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1- BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 r... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4342
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/08/2020
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- breast-ovarian cancer, familial, susceptibility to, 3 Monarch
HI Evidence:
-
PUBMED:
21990120
This study characterized the presence of disease-causing variants in the RAD51C gene among 1053 individuals with hereditary breast cancer, 335 with hereditary breast and ovarian cancer, and 267 unselected individuals with ovarian cancer, finding 3 truncating variants. The p.Val25CysFS*3 was detected in a family with 2 reports ovarian cancer; the p.Gln133X was reported in a family with 3 women diagnosed with both breast and ovarian cancer, one with bilateral breast cancer. Additionally the p.Gly77ValFs*24 was reported in an unselected patient with no available family history with ovarian cancer and a metachronous breast cancer.
-
PUBMED:
24800917
Study of 348 BRCA1/2 negative individuals with either breast or ovarian cancer found at 3 different truncating variants (p.Cys68*, c.Tyr75*, and p.Ser234*) in 3 separate families segregating breast cancer, ovarian cancer as well as leukemia( for p.Cys68*).
-
PUBMED:
20400964
Additional study of 1100 unrelated individuals from pedigrees with either breast or ovarian cancer or both. This study identified 3 different loss of function variants. The p.Cis176Leufs*26 in a family with one individual with ovarian cancer, one with breast cancer and non-Hodgkin lymphoma, and one individual with breast cancer. The canonical splice site variant c.145+1G>T resulting in an abnormal RNA message was found in a family with two individuals with breast cancer (BC) an one with ovarian cancer (OC). Finally, the c.904+5G>T also leading to an abnormal mRNA was found in a family with 2 individuals with BC and 2 with OC
HI Evidence Comments:
Biallelic missense variants have been reported in patients with Fanconi Anemia type O (FANCO) (PMID: 20400964, 20400963).
Loss of function variants are associated with an increased risk for ovarian cancer and possibly breast cancer.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)