Gene Information
RAD51 paralog C [Source:HGNC Symbol;Acc:HGNC:9820]
RAD51C variants are associated with 2 diseases including Fanconi anemia and hereditary breast ovarian cancer syndrome, with 20 documented clinical phenotypes.
The RAD51C gene is associated with 2 medical conditions, including:
Research has identified 20 phenotypic features associated with RAD51C variants:
Miscarriage
HP:0005268
Renal cyst
HP:0000107
Small thenar eminence
HP:0001245
Proximal placement of thumb
HP:0009623
Chromosome breakage
HP:0040012
Short thumb
HP:0009778
Congenital onset
HP:0003577
External genital hypoplasia
HP:0003241
Cryptorchidism
HP:0000028
Abnormal heart morphology
HP:0001627
Short stature
HP:0004322
Rectal atresia
HP:0025023
Autosomal recessive inheritance
HP:0000007
Anal atresia
HP:0002023
Hydronephrosis
HP:0000126
ClinVar contains 10 variants associated with RAD51C. Below are some notable variants:
NM_058216.3(RAD51C):c.824A>G (p.Asn275Ser)
Uncertain significanceVCV004527419
Review: criteria provided, single submitter
NC_000017.10:g.(?_56770004)_(56801462_?)dup
Likely pathogenicVCV004526427
Review: criteria provided, single submitter
NM_058216.3(RAD51C):c.875G>T (p.Arg292Ile)
Uncertain significanceVCV004294403
Review: criteria provided, single submitter
NM_058216.3(RAD51C):c.322dup (p.Asp108fs)
PathogenicVCV004294251
Review: criteria provided, single submitter
NM_058216.3(RAD51C):c.187del (p.Ile63fs)
PathogenicVCV004294213
Review: criteria provided, single submitter
There are 384 publications about RAD51C indexed in PubMed. Below are some recent papers:
BrUOG360: A phase Ib/II study of copanlisib in combination with rucaparib in patients with metastatic castration-resistant prostate cancer (mCRPC).
De Souza AL, Hadfield MJ, Lu S
PMID: 41231232
•
2025 Nov 13
•
Cancer Res Commun
Cryo-electron microscopy visualization of RAD51 filament assembly and end-capping by XRCC3-RAD51C-RAD51D-XRCC2.
Greenhough LA, Galanti L, Liang CC
PMID: 41196948
•
2025 Nov 6
•
Science
Salpingectomy in individuals at high risk for tubo-ovarian cancer - consensus and precaution.
Wilke RN, Pennington KP, Gootzen TA
PMID: 41183726
•
2025 Nov 1
•
Am J Obstet Gynecol
Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting.
Christopher J, Edgerley K, McIldowie B
PMID: 41159931
•
2025 Oct 1
•
J Med Genet
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Ngeow J, Chiang J, Astiazaran-Symonds E
PMID: 41070818
•
2025 Nov
•
Genet Med
Get instant, comprehensive insights on RAD51C variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025