EXOC3L2

exocyst complex component 3 like 2, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 19:45212370-45245407

Links

ENSG00000283632 ∙ NCBI:90332 ∙ OMIM:616927 ∙ HGNC:30162 ∙ Uniprot:Q2M3D2 ∙ 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 EXOC3L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC3L2 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	11	5	17
missense			46	3	4	53
nonsense						0
start loss						0
frameshift		1				1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					3	3
non coding				6	3	9
Total	0	1	47	20	12

Variants in EXOC3L2

This is a list of pathogenic ClinVar variants found in the EXOC3L2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-45213075-C-G		not specified	Uncertain significance (Jun 07, 2023)
19-45213082-C-T		not specified	Uncertain significance (Dec 19, 2022)
19-45213088-C-T			Uncertain significance (Sep 27, 2022)
19-45213090-C-T			Benign (Jul 07, 2023)
19-45213099-C-T			Likely benign (Jan 24, 2024)
19-45213106-C-T			Benign (Jan 22, 2024)
19-45213107-G-A		not specified	Uncertain significance (Mar 29, 2022)
19-45213112-C-T			Uncertain significance (May 01, 2023)
19-45213113-G-A			Uncertain significance (Nov 03, 2023)
19-45213131-T-C			Benign (Jul 17, 2023)
19-45213150-G-T			Likely benign (Oct 03, 2023)
19-45213152-G-C		not specified	Uncertain significance (Jan 23, 2024)
19-45213202-G-A		not specified	Uncertain significance (May 02, 2024)
19-45213209-G-C		not specified	Uncertain significance (Feb 27, 2024)
19-45213213-G-T		EXOC3L2-related disorder	Likely benign (Sep 21, 2023)
19-45213217-G-A		not specified	Uncertain significance (Dec 05, 2022)
19-45213263-A-G			Benign/Likely benign (Dec 01, 2022)
19-45213280-G-A		not specified	Uncertain significance (Mar 16, 2024)
19-45213284-C-T		not specified	Uncertain significance (Sep 07, 2022)
19-45213290-G-C		not specified	Uncertain significance (Sep 14, 2022)
19-45213302-G-A			Uncertain significance (Jul 19, 2022)
19-45213316-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-45213332-C-T		not specified	Uncertain significance (Jan 08, 2024)
19-45213347-C-T		not specified	Uncertain significance (Aug 15, 2023)
19-45216091-C-T		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.0841
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.06

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.210

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Exoc3l2
• Phenotype: immune system phenotype; skeleton phenotype; liver/biliary 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); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: exocytosis;biological_process;exocyst localization
• Cellular component: exocyst;cellular_component
• Molecular function: SNARE binding;molecular_function