XM_011515599.2:c.-126_-124delGGC

Variant names:

• chr7-2354793-CGCG-C
• XM_011515599.2:c.-126_-124delGGC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The XM_011515599.2(EIF3B):​c.-126_-124delGGC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 19)
• Consequence: EIF3B XM_011515599.2 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0750

Genes affected

EIF3B (HGNC:3280): (eukaryotic translation initiation factor 3 subunit B) Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in extracellular exosome. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
EIF3B	NM_001037283.2	c.-128_-126delGCG		upstream_gene_variant		ENST00000360876.9	NP_001032360.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
EIF3B	ENST00000431643.5	c.-504-440_-504-438delGCG		intron_variant	Intron 1 of 7	5		ENSP00000408062.1
EIF3B	ENST00000360876.9	c.-128_-126delGCG		upstream_gene_variant		1	NM_001037283.2	ENSP00000354125.4
EIF3B	ENST00000397011.2	c.-128_-126delGCG		upstream_gene_variant		1		ENSP00000380206.2
EIF3B	ENST00000413917.5	c.-128_-126delGCG		upstream_gene_variant		2		ENSP00000407785.1

Frequencies

GnomAD3 genomes Cov.: 19

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 19

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr7-2394428;