Fanconi anemia complementation group R

disease

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Also known as Fanconi anaemia caused by mutation in RAD51Fanconi anaemia complementation group type RFanconi anemia caused by mutation in RAD51Fanconi anemia complementation group type RFanconi Anemia, complementation group RFanconi Anemia, complementation group type RFANCRRAD51 Fanconi anaemiaRAD51 Fanconi anemia

Summary

Fanconi anemia complementation group R (MONDO:0014986) is a disease caused by RAD51 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: RAD51 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Fanconi anemia complementation group R
Mondo ID	MONDO:0014986
OMIM	617244
DOID	DOID:0111090
UMLS	C4284093
MedGen	924579
GARD	0016214
Is cancer (heuristic)	no

Also known as: Fanconi anaemia caused by mutation in RAD51 · Fanconi anaemia complementation group type R · Fanconi anemia caused by mutation in RAD51 · Fanconi anemia complementation group type R · Fanconi Anemia, complementation group R · Fanconi Anemia, complementation group type R · FANCR · RAD51 Fanconi anaemia · RAD51 Fanconi anemia

Data availability: 8 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › Fanconi anemia › Fanconi anemia complementation group R

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

8 retrieved; paginated sample, class counts are floors:

4 likely pathogenic, 2 uncertain significance, 1 pathogenic/likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
372139	NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)	RAD51	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
916731	NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)	RAD51	Pathogenic	no assertion criteria provided
2443994	NM_002875.5(RAD51):c.871ATC[1] (p.Ile292del)	RAD51	Likely pathogenic	no assertion criteria provided
2500726	NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)	RAD51	Likely pathogenic	criteria provided, single submitter
3906887	NM_002875.5(RAD51):c.881A>G (p.His294Arg)	RAD51	Likely pathogenic	criteria provided, single submitter
522859	NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)	RAD51	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2500738	NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)	RAD51	Uncertain significance	criteria provided, multiple submitters, no conflicts
3222870	NM_002875.5(RAD51):c.761G>A (p.Arg254Gln)	RAD51	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
RAD51	Strong	Autosomal dominant	Fanconi anemia complementation group R	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RAD51	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
RAD51	Orphanet:238722	Familial congenital mirror movements
RAD51	Orphanet:84	Fanconi anemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RAD51	HGNC:9817	ENSG00000051180	Q06609	DNA repair protein RAD51 homolog 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RAD51	DNA repair protein RAD51 homolog 1	Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR).

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RAD51	Transcription factor	no	3.6.4.B7	AAA+_ATPase, DNA_repair_Rad51/TF_NusA_a-hlx, DNA_recomb/repair_Rad51

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
primordial germ cell in gonad	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RAD51	193	ubiquitous	marker	primordial germ cell in gonad, buccal mucosa cell, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RAD51	6,465

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RAD51	Q06609	52

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Impaired BRCA2 binding to PALB2	1	456.8×	0.004	RAD51
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	1	423.0×	0.004	RAD51
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	1	423.0×	0.004	RAD51
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	1	423.0×	0.004	RAD51
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	1	393.8×	0.004	RAD51
Homologous DNA Pairing and Strand Exchange	1	380.7×	0.004	RAD51
Impaired BRCA2 binding to RAD51	1	308.6×	0.004	RAD51
Resolution of D-loop Structures through Holliday Junction Intermediates	1	300.5×	0.004	RAD51
HDR through Single Strand Annealing (SSA)	1	292.8×	0.004	RAD51
Transcriptional Regulation by E2F6	1	292.8×	0.004	RAD51
Presynaptic phase of homologous DNA pairing and strand exchange	1	271.9×	0.004	RAD51
HDR through Homologous Recombination (HRR)	1	190.3×	0.006	RAD51
Meiotic recombination	1	129.8×	0.008	RAD51

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to glucoside	1	16852.0×	0.001	RAD51
mitotic recombination-dependent replication fork processing	1	8426.0×	0.001	RAD51
DNA recombinase assembly	1	5617.3×	0.001	RAD51
DNA strand invasion	1	4213.0×	0.001	RAD51
chromosome organization involved in meiotic cell cycle	1	3370.4×	0.001	RAD51
cellular response to cisplatin	1	3370.4×	0.001	RAD51
cellular response to camptothecin	1	3370.4×	0.001	RAD51
mitotic recombination	1	2808.7×	0.001	RAD51
replication-born double-strand break repair via sister chromatid exchange	1	2808.7×	0.001	RAD51
telomere maintenance via telomere lengthening	1	1872.4×	0.001	RAD51
telomere maintenance via recombination	1	1532.0×	0.002	RAD51
cellular response to hydroxyurea	1	1404.3×	0.002	RAD51
double-strand break repair involved in meiotic recombination	1	1296.3×	0.002	RAD51
regulation of DNA damage checkpoint	1	1123.5×	0.002	RAD51
regulation of double-strand break repair via homologous recombination	1	991.3×	0.002	RAD51
response to X-ray	1	887.0×	0.002	RAD51
cellular response to gamma radiation	1	601.9×	0.003	RAD51
reciprocal meiotic recombination	1	561.7×	0.003	RAD51
interstrand cross-link repair	1	432.1×	0.003	RAD51
replication fork processing	1	421.3×	0.003	RAD51
cellular response to ionizing radiation	1	411.0×	0.003	RAD51
DNA recombination	1	337.0×	0.004	RAD51
meiotic cell cycle	1	244.2×	0.005	RAD51
response to toxic substance	1	210.7×	0.006	RAD51
double-strand break repair via homologous recombination	1	156.0×	0.007	RAD51
response to xenobiotic stimulus	1	69.1×	0.016	RAD51
DNA repair	1	63.8×	0.016	RAD51
DNA damage response	1	53.5×	0.019	RAD51

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RAD51	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
RAD51	124	Binding:116, ADMET:8

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RAD51	3.6.4.B7

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
RAD51	124

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	RAD51

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
RAD51	124	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: RAD51