1-20817517-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001391906.1(EIF4G3):āc.4390G>Cā(p.Asp1464His) variant causes a missense change. The variant allele was found at a frequency of 0.0000319 in 1,601,182 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4G3 | NM_001391906.1 | c.4390G>C | p.Asp1464His | 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.4390G>C | p.Asp1464His | missense_variant | Exon 34 of 37 | 1 | NM_001391906.1 | ENSP00000473510.2 |
Frequencies
GnomAD3 genomes AF: 0.0000396 AC: 6AN: 151552Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249058Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134784
GnomAD4 exome AF: 0.0000310 AC: 45AN: 1449630Hom.: 0 Cov.: 30 AF XY: 0.0000264 AC XY: 19AN XY: 721028
GnomAD4 genome AF: 0.0000396 AC: 6AN: 151552Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74034
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4330G>C (p.D1444H) alteration is located in exon 32 (coding exon 28) of the EIF4G3 gene. This alteration results from a G to C substitution at nucleotide position 4330, causing the aspartic acid (D) at amino acid position 1444 to be replaced by a histidine (H). 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