1-20840941-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001391906.1(EIF4G3):āc.3976A>Cā(p.Ser1326Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,613,972 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.3976A>C | p.Ser1326Arg | missense_variant | Exon 30 of 37 | ENST00000602326.6 | NP_001378835.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF4G3 | ENST00000602326.6 | c.3976A>C | p.Ser1326Arg | missense_variant | Exon 30 of 37 | 1 | NM_001391906.1 | ENSP00000473510.2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251482Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135918
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461790Hom.: 0 Cov.: 33 AF XY: 0.0000454 AC XY: 33AN XY: 727190
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3916A>C (p.S1306R) alteration is located in exon 28 (coding exon 24) of the EIF4G3 gene. This alteration results from a A to C substitution at nucleotide position 3916, causing the serine (S) at amino acid position 1306 to be replaced by an arginine (R). 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