rs13045
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004836.7(EIF2AK3):c.497A>T(p.Gln166Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q166R) has been classified as Benign.
Frequency
Consequence
NM_004836.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EIF2AK3 | NM_004836.7 | c.497A>T | p.Gln166Leu | missense_variant | 3/17 | ENST00000303236.9 | |
EIF2AK3 | NM_001313915.2 | c.44A>T | p.Gln15Leu | missense_variant | 3/17 | ||
EIF2AK3 | XM_047446428.1 | c.206A>T | p.Gln69Leu | missense_variant | 3/17 | ||
EIF2AK3 | XM_047446430.1 | c.497A>T | p.Gln166Leu | missense_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EIF2AK3 | ENST00000303236.9 | c.497A>T | p.Gln166Leu | missense_variant | 3/17 | 1 | NM_004836.7 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 52
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at