RAD51AP2

RAD51 associated protein 2

Basic information

Region (hg38): 2:17510579-17518440

Links

ENSG00000214842 ∙ NCBI:729475 ∙ ∙ HGNC:34417 ∙ Uniprot:Q09MP3 ∙ 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 RAD51AP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD51AP2 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				1		1
missense			64	7		71
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	64	8	0

Variants in RAD51AP2

This is a list of pathogenic ClinVar variants found in the RAD51AP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-17510835-A-G		not specified	Uncertain significance (May 23, 2024)
2-17510854-G-A		not specified	Uncertain significance (Nov 09, 2023)
2-17510857-G-A		not specified	Uncertain significance (Nov 07, 2023)
2-17510868-C-T		not specified	Likely benign (Mar 12, 2024)
2-17510892-C-T		not specified	Uncertain significance (Jul 08, 2022)
2-17510896-T-C		not specified	Uncertain significance (Nov 10, 2022)
2-17510928-C-G		not specified	Uncertain significance (Sep 01, 2021)
2-17510929-T-C		not specified	Uncertain significance (Nov 15, 2021)
2-17515187-A-G		not specified	Uncertain significance (May 25, 2022)
2-17515206-T-A		not specified	Uncertain significance (Jun 03, 2022)
2-17515256-G-A		not specified	Uncertain significance (Oct 12, 2022)
2-17515303-G-A		not specified	Uncertain significance (Oct 10, 2023)
2-17515339-C-T		not specified	Uncertain significance (Jun 28, 2023)
2-17515360-A-G		not specified	Uncertain significance (Nov 30, 2022)
2-17515395-C-G		not specified	Uncertain significance (Dec 20, 2023)
2-17515483-A-C		not specified	Uncertain significance (Jun 18, 2021)
2-17515513-A-C		not specified	Uncertain significance (Nov 27, 2023)
2-17515535-C-A		not specified	Uncertain significance (Sep 17, 2021)
2-17515634-T-C		not specified	Uncertain significance (May 18, 2023)
2-17515817-T-C		not specified	Uncertain significance (Oct 27, 2021)
2-17515822-A-G		not specified	Uncertain significance (Apr 07, 2022)
2-17515858-T-G		not specified	Uncertain significance (Dec 23, 2022)
2-17515916-T-C		not specified	Uncertain significance (Dec 14, 2022)
2-17515931-A-T		not specified	Uncertain significance (Feb 16, 2023)
2-17515952-T-C		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAD51AP2	protein_coding	protein_coding	ENST00000399080	3	7856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.97e-20	0.0142	124473	1	53	124527	0.000217

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0554	556	552	1.01	0.0000252	7780
Missense in Polyphen		80	94.319	0.84819		1579
Synonymous	-0.553	205	195	1.05	0.00000947	1988
Loss of Function	0.683	32	36.5	0.878	0.00000177	569

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00161	0.00161
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000575	0.0000557
Finnish	0.00	0.00
European (Non-Finnish)	0.00000895	0.00000884
Middle Eastern	0.0000575	0.0000557
South Asian	0.00	0.00
Other	0.000168	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.946
• rvis_EVS: 1.3
• rvis_percentile_EVS: 93.91

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.155

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rad51ap2

Gene ontology

• Biological process: biological_process
• Cellular component: protein-containing complex
• Molecular function: protein binding