5-176645226-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001099408.2(EIF4E1B):c.457C>T(p.Arg153Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000621 in 1,594,766 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099408.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF4E1B | ENST00000318682.11 | c.457C>T | p.Arg153Trp | missense_variant | Exon 7 of 9 | 5 | NM_001099408.2 | ENSP00000323714.6 | ||
EIF4E1B | ENST00000504597.5 | c.457C>T | p.Arg153Trp | missense_variant | Exon 7 of 9 | 5 | ENSP00000427633.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152042Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000509 AC: 11AN: 216174Hom.: 0 AF XY: 0.0000683 AC XY: 8AN XY: 117216
GnomAD4 exome AF: 0.0000658 AC: 95AN: 1442724Hom.: 0 Cov.: 31 AF XY: 0.0000601 AC XY: 43AN XY: 716060
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152042Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.457C>T (p.R153W) alteration is located in exon 7 (coding exon 5) of the EIF4E1B gene. This alteration results from a C to T substitution at nucleotide position 457, causing the arginine (R) at amino acid position 153 to be replaced by a tryptophan (W). 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