EEF1E1-BLOC1S5

EEF1E1-BLOC1S5 readthrough (NMD candidate)

Basic information

Region (hg38): 6:8015725-8102530

Links

ENSG00000265818 ∙ NCBI:100526837 ∙ ∙ HGNC:49187 ∙ ∙ ∙ 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 EEF1E1-BLOC1S5 gene.

• Inborn genetic diseases (11 variants)
• Hermansky-Pudlak syndrome 11 (2 variants)
• not provided (1 variants)
• Hermansky-Pudlak syndrome (1 variants)
• BLOC1S5-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1E1-BLOC1S5 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region						0
non coding	1	1	10	2		14
Total	1	2	10	2	0

Highest pathogenic variant AF is 0.0000131

Variants in EEF1E1-BLOC1S5

This is a list of pathogenic ClinVar variants found in the EEF1E1-BLOC1S5 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-8026378-C-G		Inborn genetic diseases	Uncertain significance (Sep 14, 2021)
6-8026405-CT-C		Hermansky-Pudlak syndrome • Hermansky-Pudlak syndrome 11	Pathogenic (Jan 29, 2021)
6-8026427-T-G		BLOC1S5-related disorder	Likely pathogenic (Mar 13, 2023)
6-8041169-G-A		Inborn genetic diseases	Uncertain significance (Dec 03, 2021)
6-8041175-T-C		Inborn genetic diseases	Uncertain significance (May 24, 2024)
6-8041181-T-C		Inborn genetic diseases	Uncertain significance (Jan 20, 2023)
6-8041213-T-C		Inborn genetic diseases	Uncertain significance (Nov 21, 2023)
6-8041235-C-T		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
6-8041262-G-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2023)
6-8041263-T-A		Inborn genetic diseases	Uncertain significance (Aug 16, 2021)
6-8054272-T-C		BLOC1S5-related disorder	Likely benign (Aug 26, 2021)
6-8062556-C-T		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
6-8062559-G-A		Inborn genetic diseases	Uncertain significance (May 30, 2023)
6-8062574-AC-A		Hermansky-Pudlak syndrome 11	Likely pathogenic (Apr 28, 2022)
6-8064269-G-C		Inborn genetic diseases	Uncertain significance (Feb 27, 2023)
6-8064319-T-C		Inborn genetic diseases	Likely benign (Feb 13, 2023)
6-8064327-C-T		Inborn genetic diseases	Uncertain significance (Oct 02, 2023)
6-8064351-G-A		Inborn genetic diseases	Uncertain significance (Jun 13, 2024)
6-8064352-G-A		Inborn genetic diseases	Uncertain significance (Aug 02, 2021)
6-8064353-G-A			Likely benign (Nov 01, 2022)
6-8064358-C-A		Hermansky-Pudlak syndrome 11	Likely pathogenic (Sep 23, 2022)
6-8064375-A-C		Hermansky-Pudlak syndrome 11	Pathogenic (Mar 26, 2024)
6-8079966-T-A		not specified	Uncertain significance (Dec 02, 2022)
6-8080024-G-C		not specified	Uncertain significance (May 31, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.394