chr5-176643254-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001099408.2(EIF4E1B):c.188C>T(p.Pro63Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000048 in 1,459,800 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099408.2 missense
Scores
Clinical Significance
Conservation
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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.188C>T | p.Pro63Leu | missense_variant | Exon 4 of 9 | 5 | NM_001099408.2 | ENSP00000323714.6 | ||
EIF4E1B | ENST00000504597.5 | c.188C>T | p.Pro63Leu | missense_variant | Exon 4 of 9 | 5 | ENSP00000427633.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248200Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134804
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459800Hom.: 0 Cov.: 34 AF XY: 0.00000826 AC XY: 6AN XY: 726156
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.188C>T (p.P63L) alteration is located in exon 4 (coding exon 2) of the EIF4E1B gene. This alteration results from a C to T substitution at nucleotide position 188, causing the proline (P) at amino acid position 63 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