1-20817457-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001391906.1(EIF4G3):āc.4450A>Gā(p.Lys1484Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000193 in 1,609,816 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001391906.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4G3 | NM_001391906.1 | c.4450A>G | p.Lys1484Glu | missense_variant | Exon 34 of 37 | ENST00000602326.6 | NP_001378835.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF4G3 | ENST00000602326.6 | c.4450A>G | p.Lys1484Glu | missense_variant | Exon 34 of 37 | 1 | NM_001391906.1 | ENSP00000473510.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151596Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250992Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135644
GnomAD4 exome AF: 0.0000199 AC: 29AN: 1458220Hom.: 0 Cov.: 30 AF XY: 0.0000221 AC XY: 16AN XY: 725410
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151596Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74052
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4390A>G (p.K1464E) alteration is located in exon 32 (coding exon 28) of the EIF4G3 gene. This alteration results from a A to G substitution at nucleotide position 4390, causing the lysine (K) at amino acid position 1464 to be replaced by a glutamic acid (E). 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