RAD52

RAD52 homolog, DNA repair protein

Basic information

Region (hg38): 12:911735-990053

Links

ENSG00000002016 ∙ NCBI:5893 ∙ OMIM:600392 ∙ HGNC:9824 ∙ Uniprot:P43351 ∙ 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 RAD52 gene.

• not provided (19 variants)
• Inborn genetic diseases (7 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD52 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						0
missense			7		1	8
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	1

Variants in RAD52

This is a list of pathogenic ClinVar variants found in the RAD52 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-912197-G-A			not provided (-)
12-912399-A-C			not provided (-)
12-912923-G-A			not provided (-)
12-912938-G-A			not provided (-)
12-912996-C-T			not provided (-)
12-913066-G-C			not provided (-)
12-913067-C-T			not provided (-)
12-913069-A-T			not provided (-)
12-913070-G-T			not provided (-)
12-913071-G-T			not provided (-)
12-913073-G-T			not provided (-)
12-913074-C-T			not provided (-)
12-913075-C-G			not provided (-)
12-913076-A-T			not provided (-)
12-913396-A-G		not specified	Uncertain significance (Feb 28, 2023)
12-913403-A-C		not specified	Likely benign (Mar 29, 2016)
12-913981-T-G		not specified	Uncertain significance (Mar 17, 2023)
12-914052-G-T		RAD52-related disorder	Benign (Apr 14, 2021)
12-914089-C-G		not specified	Likely benign (Jan 19, 2024)
12-914109-T-G		not specified	Uncertain significance (Jan 03, 2024)
12-914296-C-A			not provided (-)
12-914508-G-A		not specified	Uncertain significance (Aug 16, 2021)
12-916345-C-G		not specified	Uncertain significance (Dec 08, 2021)
12-916690-G-A		not specified	Uncertain significance (Feb 11, 2022)
12-916703-G-C			Benign (Apr 04, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAD52	protein_coding	protein_coding	ENST00000358495	11	77977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.11e-11	0.424	125625	1	121	125747	0.000485

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.551	222	246	0.901	0.0000143	2714
Missense in Polyphen		55	71.259	0.77183		809
Synonymous	-0.0152	100	99.8	1.00	0.00000640	808
Loss of Function	1.14	19	25.1	0.756	0.00000139	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00236	0.00236
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.000112	0.000109
South Asian	0.000882	0.000850
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase. {ECO:0000269|PubMed:12379650, ECO:0000269|PubMed:8702565}.
• Pathway: Homologous recombination - Homo sapiens (human);miRNA Regulation of DNA Damage Response;miRNAs involved in DNA damage response;Homologous recombination;DNA Damage Response;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;DNA Double-Strand Break Repair;SUMOylation of DNA damage response and repair proteins;Homology Directed Repair;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;SUMOylation (Consensus)

Recessive Scores

• pRec: 0.415

Intolerance Scores

• loftool: 0.859
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.1

Haploinsufficiency Scores

• pHI: 0.722
• hipred: Y
• hipred_score: 0.566
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.735

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rad52
• Phenotype: immune system 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); hematopoietic system phenotype; neoplasm; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: rad52
• Affected structure: double-strand break repair via single-strand annealing
• Phenotype tag: abnormal
• Phenotype quality: decreased frequency

Gene ontology

• Biological process: double-strand break repair via homologous recombination;DNA recombinase assembly;double-strand break repair;DNA recombination;mitotic recombination;cellular response to DNA damage stimulus;DNA double-strand break processing involved in repair via single-strand annealing;cellular response to oxidative stress;double-strand break repair via single-strand annealing;protein homooligomerization;regulation of nucleotide-excision repair
• Cellular component: nucleus;nucleoplasm;protein-containing complex;protein-DNA complex
• Molecular function: DNA binding;single-stranded DNA binding;protein binding;identical protein binding