7-2354793-CGCG-C

Variant names:

• chr7-2354793-CGCG-C
• rs3216988
• ENST00000922848.1:c.-126_-124delGGC

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001362792.2(EIF3B):​c.-504-438_-504-436delGGC variant causes a intron 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 NM_001362792.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0750
• Publications: 0 publications found

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

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001362792.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	EIF3B	NM_001362792.2		c.-504-438_-504-436delGGC		intron	N/A	NP_001349721.1
	EIF3B	NM_001362793.2		c.-504-438_-504-436delGGC		intron	N/A	NP_001349722.1
	EIF3B	NM_001037283.2	MANE Select	c.-128_-126delGCG		upstream_gene	N/A	NP_001032360.1	P55884-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	EIF3B	ENST00000922848.1		c.-126_-124delGGC		5_prime_UTR	Exon 2 of 20	ENSP00000592907.1
	EIF3B	ENST00000922849.1		c.-126_-124delGGC		5_prime_UTR	Exon 1 of 19	ENSP00000592908.1
	EIF3B	ENST00000431643.5	TSL:5	c.-504-438_-504-436delGGC		intron	N/A	ENSP00000408062.1	C9JQN7

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.075

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs3216988; hg19: chr7-2394428;