RAD51

Chr 15ADSomatic

RAD51 recombinase

Also known as: BRCC5, FANCR, HRAD51, HsRad51, HsT16930, MRMV2, RAD51A, RECA

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Breast cancer, susceptibility to}MIM #114480
ADSomatic
Fanconi anemia, complementation group RMIM #617244
AD
Mirror movements 2MIM #614508
AD

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
608
Pubs (1 yr)
P/LP submissions
P/LP missense
0.64
LOEUF
LOF*
Mechanism· G2P
📖
GeneReview available — RAD51
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.027
Z-score 2.68
OE 0.33 (0.180.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.62Z-score
OE missense 0.45 (0.380.54)
81 obs / 180.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.33 (0.180.64)
00.351.4
Missense OE?0.45 (0.380.54)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 6 / 18.4Missense obs/exp: 81 / 180.0Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAD51 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Metastatic Malignant Solid NeoplasmUnresectable Malignant Solid Neoplasm

Studying the Safety and Determining the Optimal Dose of Novobiocin in Patients With Tumors That Have Alterations in DNA Repair Genes

RECRUITING
NCT05687110Phase PHASE1National Cancer Institute (NCI)Started 2023-07-06
Biopsy ProcedureBiospecimen CollectionDiagnostic Imaging Testing
Ovarian CancerFallopian Tube CancerPeritoneal Cancer

Microdevice In Ovarian, Fallopian Tube, And Peritoneal Cancer

RECRUITING
NCT04701645Phase PHASE1Brigham and Women's HospitalStarted 2022-11-01
Microdevice
Metastatic Pancreatic Ductal AdenocarcinomaHomologous Recombination Deficiency (HRD)

A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy

ACTIVE NOT RECRUITING
NCT04666740Phase PHASE2Memorial Sloan Kettering Cancer CenterStarted 2020-12-18
PembrolizumabOlaparib
Advanced Fallopian Tube CarcinomaAdvanced Malignant Solid NeoplasmAdvanced Ovarian Carcinoma

Testing the Addition of an Anti-cancer Drug, Elimusertib (BAY 1895344) ATR Inhibitor, to the Chemotherapy Treatment (Gemcitabine) for Advanced Pancreatic and Ovarian Cancer, and Advanced Solid Tumors

ACTIVE NOT RECRUITING
NCT04616534Phase PHASE1National Cancer Institute (NCI)Started 2021-06-01
Biopsy ProcedureBiospecimen CollectionDiagnostic Imaging Testing
SarcomaSarcoma,Soft TissueSarcoma of Bone

PARP Inhibition, Stereotactic Body Radiotherapy and Immunotherapy for Metastatic or Advanced Sarcoma (PRIMA)

RECRUITING
NCT06074692Phase PHASE2Ruijin HospitalStarted 2023-06-01
Camrelizumab and fluzoparib with concurrent stereotactic body radiotherapy (SBRT)
Breast CancerTriple Negative Breast Neoplasms

NordicTrip, a Translational Study of Preoperative Chemotherapy in TNBC

ACTIVE NOT RECRUITING
NCT04335669Phase PHASE3Lund University HospitalStarted 2019-12-20
epirubicin, cyclophosphamide, paclitaxel, carboplatin, pembrolizumabepirubicin, cyclophosphamide, capecitabine, paclitaxel, carboplatin, pembrolizumab
Metastatic Breast CancerInvasive Breast CancerSomatic Mutation Breast Cancer (BRCA1)

Olaparib In Metastatic Breast Cancer

ACTIVE NOT RECRUITING
NCT03344965Phase PHASE2Beth Israel Deaconess Medical CenterStarted 2018-04-01
Olaparib
Recurrent Ovarian High Grade Serous AdenocarcinomaRecurrent Platinum-Resistant Ovarian Carcinoma

Testing the Addition of Abemaciclib to Olaparib for Women With Recurrent Ovarian Cancer

RECRUITING
NCT04633239Phase PHASE1National Cancer Institute (NCI)Started 2021-07-02
AbemaciclibBiopsy ProcedureBiospecimen Collection
Metastatic Pancreatic Cancer

Olaparib and Durvalumab (MEDI4736) in Patients with Metastatic Pancreatic Cancer and DNA Damage Repair Genes Alterations

ACTIVE NOT RECRUITING
NCT05659914Phase PHASE2Spanish Cooperative Group for the Treatment of Digestive Tumours (TTD)Started 2022-11-28
olaparib+durvalumab
Anatomic Stage III Breast Cancer AJCC v8Anatomic Stage IV Breast Cancer AJCC v8Castration-Resistant Prostate Carcinoma

Measuring the Effects of Talazoparib in Patients With Advanced Cancer and DNA Repair Variations

ACTIVE NOT RECRUITING
NCT04550494Phase PHASE2National Cancer Institute (NCI)Started 2021-04-26
Biopsy ProcedureBiospecimen CollectionComputed Tomography
Pancreatic Cancer

Pancreatic Cancer Genetics

RECRUITING
NCT01102569Columbia UniversityStarted 2008-01
Prostate Cancer Metastatic Castration-ResistantAbnormal DNA RepairMetastatic Prostate Carcinoma

Abiraterone/Prednisone, Olaparib, or Abiraterone/Prednisone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects

ACTIVE NOT RECRUITING
NCT03012321Phase PHASE2Northwestern UniversityStarted 2017-01-12
OlaparibAbiraterone AcetatePrednisone