15-39939424-A-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001013703.4(EIF2AK4):c.145-81A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.33 in 723,644 control chromosomes in the GnomAD database, including 46,611 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001013703.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2AK4 | ENST00000263791.10 | c.145-81A>T | intron_variant | Intron 1 of 38 | 2 | NM_001013703.4 | ENSP00000263791.5 | |||
EIF2AK4 | ENST00000559624.5 | c.145-81A>T | intron_variant | Intron 1 of 10 | 1 | ENSP00000453148.1 | ||||
EIF2AK4 | ENST00000560648.1 | c.145-81A>T | intron_variant | Intron 1 of 3 | 3 | ENSP00000453968.1 |
Frequencies
GnomAD3 genomes AF: 0.344 AC: 52260AN: 151980Hom.: 10130 Cov.: 33
GnomAD4 exome AF: 0.326 AC: 186257AN: 571546Hom.: 36465 AF XY: 0.328 AC XY: 95976AN XY: 292496
GnomAD4 genome AF: 0.344 AC: 52322AN: 152098Hom.: 10146 Cov.: 33 AF XY: 0.354 AC XY: 26342AN XY: 74342
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at