1-20813227-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001391906.1(EIF4G3):c.4528G>A(p.Glu1510Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,612,756 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001391906.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4G3 | NM_001391906.1 | c.4528G>A | p.Glu1510Lys | missense_variant | Exon 35 of 37 | ENST00000602326.6 | NP_001378835.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF4G3 | ENST00000602326.6 | c.4528G>A | p.Glu1510Lys | missense_variant | Exon 35 of 37 | 1 | NM_001391906.1 | ENSP00000473510.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151952Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251140Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135756
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1460804Hom.: 0 Cov.: 29 AF XY: 0.0000165 AC XY: 12AN XY: 726778
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151952Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4468G>A (p.E1490K) alteration is located in exon 33 (coding exon 29) of the EIF4G3 gene. This alteration results from a G to A substitution at nucleotide position 4468, causing the glutamic acid (E) at amino acid position 1490 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at