2-88627211-CCAGCAGCAGCAG-CCAGCAGCAGCAGCAGCAGCAGCAG
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_004836.7(EIF2AK3):c.52_63dupCTGCTGCTGCTG(p.Leu18_Leu21dup) variant causes a conservative inframe insertion 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: 0)
Exomes 𝑓: 0.0000016 ( 0 hom. )
Consequence
EIF2AK3
NM_004836.7 conservative_inframe_insertion
NM_004836.7 conservative_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.853
Genes affected
EIF2AK3 (HGNC:3255): (eukaryotic translation initiation factor 2 alpha kinase 3) The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF2AK3 | NM_004836.7 | c.52_63dupCTGCTGCTGCTG | p.Leu18_Leu21dup | conservative_inframe_insertion | Exon 1 of 17 | ENST00000303236.9 | NP_004827.4 | |
EIF2AK3 | XM_047446430.1 | c.52_63dupCTGCTGCTGCTG | p.Leu18_Leu21dup | conservative_inframe_insertion | Exon 1 of 12 | XP_047302386.1 | ||
EIF2AK3 | XM_047446428.1 | c.17+466_17+477dupCTGCTGCTGCTG | intron_variant | Intron 1 of 16 | XP_047302384.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2AK3 | ENST00000303236.9 | c.52_63dupCTGCTGCTGCTG | p.Leu18_Leu21dup | conservative_inframe_insertion | Exon 1 of 17 | 1 | NM_004836.7 | ENSP00000307235.3 | ||
EIF2AK3 | ENST00000682892.1 | c.-145-13370_-145-13359dupCTGCTGCTGCTG | intron_variant | Intron 2 of 17 | ENSP00000507214.1 | |||||
EIF2AK3 | ENST00000652099.1 | n.49_60dupCTGCTGCTGCTG | non_coding_transcript_exon_variant | Exon 1 of 18 | ENSP00000498211.1 | |||||
EIF2AK3 | ENST00000652423.1 | n.52_63dupCTGCTGCTGCTG | non_coding_transcript_exon_variant | Exon 1 of 4 | ENSP00000498948.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 0.00000156 AC: 2AN: 1278938Hom.: 0 Cov.: 0 AF XY: 0.00000159 AC XY: 1AN XY: 630080
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GnomAD4 genome Cov.: 0
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.