1-20807491-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001391906.1(EIF4G3):c.4754G>A(p.Arg1585Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,583,424 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4G3 | NM_001391906.1 | c.4754G>A | p.Arg1585Gln | missense_variant | Exon 37 of 37 | ENST00000602326.6 | NP_001378835.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF4G3 | ENST00000602326.6 | c.4754G>A | p.Arg1585Gln | missense_variant | Exon 37 of 37 | 1 | NM_001391906.1 | ENSP00000473510.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242564Hom.: 0 AF XY: 0.00000761 AC XY: 1AN XY: 131368
GnomAD4 exome AF: 0.00000769 AC: 11AN: 1431336Hom.: 0 Cov.: 30 AF XY: 0.00000847 AC XY: 6AN XY: 708782
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4694G>A (p.R1565Q) alteration is located in exon 35 (coding exon 31) of the EIF4G3 gene. This alteration results from a G to A substitution at nucleotide position 4694, causing the arginine (R) at amino acid position 1565 to be replaced by a glutamine (Q). 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