12-53018801-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001417.7(EIF4B):c.155C>T(p.Ser52Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000285 in 1,612,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001417.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4B | NM_001417.7 | c.155C>T | p.Ser52Leu | missense_variant | Exon 3 of 15 | ENST00000262056.14 | NP_001408.2 | |
EIF4B | NM_001300821.3 | c.155C>T | p.Ser52Leu | missense_variant | Exon 3 of 15 | NP_001287750.1 | ||
EIF4B | NM_001330654.2 | c.155C>T | p.Ser52Leu | missense_variant | Exon 3 of 14 | NP_001317583.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152094Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000402 AC: 10AN: 248916Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135068
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1460118Hom.: 0 Cov.: 31 AF XY: 0.0000262 AC XY: 19AN XY: 726392
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152094Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.155C>T (p.S52L) alteration is located in exon 3 (coding exon 3) of the EIF4B gene. This alteration results from a C to T substitution at nucleotide position 155, causing the serine (S) at amino acid position 52 to be replaced by a leucine (L). 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