chr15-39934335-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001013703.4(EIF2AK4):c.140G>T(p.Gly47Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013703.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF2AK4 | NM_001013703.4 | c.140G>T | p.Gly47Val | missense_variant | 1/39 | ENST00000263791.10 | NP_001013725.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2AK4 | ENST00000263791.10 | c.140G>T | p.Gly47Val | missense_variant | 1/39 | 2 | NM_001013703.4 | ENSP00000263791 | P1 | |
EIF2AK4 | ENST00000559624.5 | c.140G>T | p.Gly47Val | missense_variant | 1/11 | 1 | ENSP00000453148 | |||
EIF2AK4 | ENST00000560648.1 | c.140G>T | p.Gly47Val | missense_variant | 1/4 | 3 | ENSP00000453968 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1455360Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 723648
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 22, 2024 | The c.140G>T (p.G47V) alteration is located in exon 1 (coding exon 1) of the EIF2AK4 gene. This alteration results from a G to T substitution at nucleotide position 140, causing the glycine (G) at amino acid position 47 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.