CORO2B

coronin 2B, the group of WD repeat domain containing|Coronins

Basic information

Region (hg38): 15:68578992-68727806

Links

ENSG00000103647 ∙ NCBI:10391 ∙ OMIM:605002 ∙ HGNC:2256 ∙ Uniprot:Q9UQ03 ∙ 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 CORO2B gene.

• Inborn genetic diseases (18 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO2B 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				2		2
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	0

Variants in CORO2B

This is a list of pathogenic ClinVar variants found in the CORO2B region.

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

Position	Type	Phenotype	Significance	ClinVar
15-68645170-G-A		not specified	Uncertain significance (Aug 08, 2022)
15-68645173-C-T		not specified	Uncertain significance (Oct 04, 2022)
15-68645240-T-A		not specified	Uncertain significance (Mar 24, 2023)
15-68645296-G-A		not specified	Uncertain significance (Jun 18, 2021)
15-68645322-G-A		not specified	Uncertain significance (Oct 13, 2023)
15-68645330-C-T			Likely benign (Mar 01, 2023)
15-68645343-G-A		not specified	Uncertain significance (Jan 24, 2024)
15-68695228-T-C		not specified	Uncertain significance (Jan 24, 2024)
15-68710742-G-T		not specified	Uncertain significance (Feb 06, 2024)
15-68710753-G-A		not specified	Uncertain significance (Apr 26, 2023)
15-68710756-G-T		not specified	Uncertain significance (Feb 06, 2024)
15-68710769-G-A		not specified	Uncertain significance (Jul 08, 2022)
15-68710833-G-T		not specified	Uncertain significance (Mar 23, 2023)
15-68710836-C-A		not specified	Uncertain significance (Dec 15, 2022)
15-68711597-C-T		not specified	Uncertain significance (Nov 23, 2022)
15-68711598-G-A			Likely benign (Mar 01, 2023)
15-68711639-T-A			Likely benign (Oct 01, 2022)
15-68711696-G-A		not specified	Uncertain significance (Jan 09, 2024)
15-68713983-G-A		not specified	Uncertain significance (Mar 23, 2022)
15-68713997-G-C		not specified	Uncertain significance (Jun 21, 2023)
15-68714007-G-C		not specified	Uncertain significance (Jun 06, 2023)
15-68714628-G-T		not specified	Uncertain significance (Nov 09, 2022)
15-68715276-T-C		not specified	Uncertain significance (Dec 14, 2022)
15-68718755-A-G		not specified	Uncertain significance (Jul 25, 2023)
15-68718806-G-A		not specified	Uncertain significance (Feb 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO2B	protein_coding	protein_coding	ENST00000566799	12	148838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0568	0.943	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.19	199	307	0.648	0.0000198	3141
Missense in Polyphen		59	118.81	0.4966		1146
Synonymous	0.660	119	129	0.926	0.00000869	931
Loss of Function	3.32	7	24.9	0.281	0.00000124	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the reorganization of neuronal actin structure.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.549
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.505
• hipred: Y
• hipred_score: 0.729
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.841

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coro2b
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; renal/urinary system phenotype

Gene ontology

• Biological process: actin cytoskeleton organization
• Cellular component: cytoplasm;actin cytoskeleton;membrane
• Molecular function: actin binding;protein binding;actin filament binding