15-39939578-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001013703.4(EIF2AK4):āc.218T>Cā(p.Val73Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000169 in 1,612,828 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001013703.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2AK4 | ENST00000263791.10 | c.218T>C | p.Val73Ala | missense_variant | Exon 2 of 39 | 2 | NM_001013703.4 | ENSP00000263791.5 | ||
EIF2AK4 | ENST00000559624.5 | c.218T>C | p.Val73Ala | missense_variant | Exon 2 of 11 | 1 | ENSP00000453148.1 | |||
EIF2AK4 | ENST00000560648.1 | c.218T>C | p.Val73Ala | missense_variant | Exon 2 of 4 | 3 | ENSP00000453968.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000345 AC: 86AN: 249272Hom.: 0 AF XY: 0.000370 AC XY: 50AN XY: 135230
GnomAD4 exome AF: 0.000179 AC: 262AN: 1460668Hom.: 1 Cov.: 30 AF XY: 0.000167 AC XY: 121AN XY: 726650
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74334
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.218T>C (p.V73A) alteration is located in exon 2 (coding exon 2) of the EIF2AK4 gene. This alteration results from a T to C substitution at nucleotide position 218, causing the valine (V) at amino acid position 73 to be replaced by an alanine (A). 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