chrX-24057652-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001415.4(EIF2S3):c.281C>G(p.Pro94Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P94T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001415.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EIF2S3 | NM_001415.4 | c.281C>G | p.Pro94Arg | missense_variant | 4/12 | ENST00000253039.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EIF2S3 | ENST00000253039.9 | c.281C>G | p.Pro94Arg | missense_variant | 4/12 | 1 | NM_001415.4 | P1 | |
EIF2S3 | ENST00000423068.1 | c.281C>G | p.Pro94Arg | missense_variant | 4/5 | 2 | |||
EIF2S3 | ENST00000487075.1 | n.156+1974C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2024 | EIF2S3: PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.