chr3-184319739-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198241.3(EIF4G1):c.475G>T(p.Ala159Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,607,242 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_198241.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152154Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000421 AC: 1AN: 237744Hom.: 0 AF XY: 0.00000777 AC XY: 1AN XY: 128704
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455088Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 723042
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152154Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74320
ClinVar
Submissions by phenotype
EIF4G1-related disorder Uncertain:1
The EIF4G1 c.475G>T variant is predicted to result in the amino acid substitution p.Ala159Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0059% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-184037527-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at