RAD51B

RAD51 paralog B

Basic information

Region (hg38): 14:67819778-68730218

Previous symbols: [ "RAD51L1" ]

Links

ENSG00000182185 ∙ NCBI:5890 ∙ OMIM:602948 ∙ HGNC:9822 ∙ Uniprot:O15315 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAD51B gene.

• not provided (59 variants)
• Hereditary breast ovarian cancer syndrome (38 variants)
• Hereditary cancer-predisposing syndrome (11 variants)
• Inborn genetic diseases (9 variants)
• not specified (1 variants)
• Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (1 variants)
• Poly (ADP-Ribose) polymerase inhibitor response (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD51B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense			20	3	5	28
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1	2	3
splice region		1			1	2
non coding			1	10	42	53
Total	0	0	22	17	51

Variants in RAD51B

This is a list of pathogenic ClinVar variants found in the RAD51B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-67823550-A-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 01, 2018)
14-67823568-G-A		Hereditary cancer-predisposing syndrome • Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity (Apr 19, 2022)
14-67823627-G-A		Hereditary breast ovarian cancer syndrome • Hereditary cancer-predisposing syndrome	Likely pathogenic (Jan 01, 2020)
14-67823652-T-C			Benign (Jul 20, 2018)
14-67823655-T-G		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)
14-67823709-T-C			Benign (Jun 23, 2018)
14-67823747-G-A			Benign (Jun 23, 2018)
14-67823803-T-G			Benign (Jun 19, 2021)
14-67825181-C-T			Benign (Jun 19, 2021)
14-67825190-G-A			Benign (Jun 19, 2021)
14-67825246-T-A			Benign (Jun 21, 2021)
14-67825402-T-C		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
14-67825470-T-C		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)
14-67825494-A-G		not specified	Uncertain significance (Feb 05, 2024)
14-67825513-G-A		not specified	Uncertain significance (Jan 19, 2024)
14-67825518-C-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 20, 2015)
14-67835047-G-T		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)
14-67835050-G-GA			Benign (Sep 25, 2018)
14-67835059-C-T		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)
14-67835084-A-G		Hereditary breast ovarian cancer syndrome	Uncertain significance (May 01, 2019)
14-67835107-G-A		Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 01, 2018)
14-67835176-G-A		not specified	Uncertain significance (Dec 14, 2023)
14-67835204-A-G		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)
14-67835410-A-G			Benign (Jun 19, 2021)
14-67864720-G-A			Benign (Jun 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAD51B	protein_coding	protein_coding	ENST00000487270	10	910440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.08e-15	0.00419	125646	0	102	125748	0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.672	169	195	0.865	0.00000944	2459
Missense in Polyphen		29	46.752	0.62029		582
Synonymous	0.339	68	71.6	0.949	0.00000333	778
Loss of Function	-0.563	21	18.4	1.14	9.39e-7	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000769	0.000769
Ashkenazi Jewish	0.00	0.00
East Asian	0.000936	0.000925
Finnish	0.00	0.00
European (Non-Finnish)	0.000294	0.000290
Middle Eastern	0.000936	0.000925
South Asian	0.000916	0.000915
Other	0.000502	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. {ECO:0000269|PubMed:11751635, ECO:0000269|PubMed:11751636, ECO:0000269|PubMed:11842113, ECO:0000269|PubMed:12441335, ECO:0000269|PubMed:23108668, ECO:0000269|PubMed:23149936}.
• Disease: DISEASE: Note=A chromosomal aberration involving RAD51B is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23- 24) with HMGA1. {ECO:0000269|PubMed:11978964}.; DISEASE: Note=A chromosomal aberration involving RAD51B is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2. {ECO:0000269|PubMed:12649198, ECO:0000269|PubMed:9892177}.
• Pathway: Homologous recombination - Homo sapiens (human);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;DNA Double-Strand Break Repair;Homology Directed Repair;Factors involved in megakaryocyte development and platelet production;Hemostasis;Presynaptic phase of homologous DNA pairing and strand exchange;Homologous DNA Pairing and Strand Exchange;Resolution of D-loop Structures through Holliday Junction Intermediates;Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-Loop Structures;HDR through Homologous Recombination (HRR) (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.79

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rad51b
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: double-strand break repair via homologous recombination;DNA repair;DNA recombination;reciprocal meiotic recombination;blood coagulation;positive regulation of G2/M transition of mitotic cell cycle
• Cellular component: nucleus;nucleoplasm;replication fork;Rad51B-Rad51C-Rad51D-XRCC2 complex
• Molecular function: four-way junction DNA binding;DNA binding;double-stranded DNA binding;single-stranded DNA binding;protein binding;ATP binding;DNA-dependent ATPase activity