EIF2B5-DT

EIF2B5 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 3:184114415-184154683

Links

ENSG00000272721 ∙ NCBI:105374249 ∙ ∙ HGNC:55202 ∙ ∙ ∙ 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 EIF2B5-DT gene.

• Vanishing white matter disease (5 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF2B5-DT 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)						0
splice region						0
non coding			4		2	6
Total	0	0	4	0	2

Variants in EIF2B5-DT

This is a list of pathogenic ClinVar variants found in the EIF2B5-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
3-184134987-C-A			Benign (May 11, 2021)
3-184135073-A-G		Vanishing white matter disease	Benign (Nov 11, 2018)
3-184135183-C-A		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135231-T-C		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135233-T-G		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135236-G-C		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135269-C-T		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135283-C-G		Vanishing white matter disease	Uncertain significance (Jun 14, 2016)
3-184135287-G-A			Uncertain significance (Feb 01, 2022)
3-184135380-A-G		EIF2B5-related disorder	Likely benign (Jan 26, 2022)
3-184135388-G-C			Likely pathogenic (Feb 11, 2020)
3-184135390-C-T		Vanishing white matter disease	Conflicting classifications of pathogenicity (Jun 19, 2021)
3-184135391-G-A			Likely benign (Aug 11, 2023)
3-184135392-G-A			Uncertain significance (Oct 17, 2022)
3-184135395-C-T			Uncertain significance (Jul 28, 2022)
3-184135397-T-C			Likely benign (Sep 21, 2023)
3-184135400-A-G			Likely benign (Oct 23, 2022)
3-184135403-G-A			Likely benign (Aug 06, 2022)
3-184135406-G-A			Likely benign (Nov 04, 2023)
3-184135406-G-C			Likely benign (Feb 28, 2022)
3-184135409-G-A			Likely benign (Jan 06, 2023)
3-184135409-G-T			Likely benign (Oct 15, 2023)
3-184135412-T-G			Likely benign (Nov 13, 2023)
3-184135418-G-A			Likely benign (May 22, 2023)
3-184135422-G-A			Uncertain significance (Mar 20, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP