rs1805190
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004836.7(EIF2AK3):c.52_63del(p.Leu18_Leu21del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000469 in 1,278,918 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L18L) has been classified as Likely benign.
Frequency
Consequence
NM_004836.7 inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EIF2AK3 | NM_004836.7 | c.52_63del | p.Leu18_Leu21del | inframe_deletion | 1/17 | ENST00000303236.9 | |
EIF2AK3 | XM_047446430.1 | c.52_63del | p.Leu18_Leu21del | inframe_deletion | 1/12 | ||
EIF2AK3 | XM_047446428.1 | c.17+466_17+477del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EIF2AK3 | ENST00000303236.9 | c.52_63del | p.Leu18_Leu21del | inframe_deletion | 1/17 | 1 | NM_004836.7 | P1 | |
EIF2AK3 | ENST00000682892.1 | c.-145-13370_-145-13359del | intron_variant | ||||||
EIF2AK3 | ENST00000652099.1 | c.50_61del | p.Leu18_Leu21del | inframe_deletion, NMD_transcript_variant | 1/18 | ||||
EIF2AK3 | ENST00000652423.1 | c.52_63del | p.Leu18_Leu21del | inframe_deletion, NMD_transcript_variant | 1/4 |
Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD3 exomes AF: 0.0000153 AC: 1AN: 65220Hom.: 0 AF XY: 0.0000268 AC XY: 1AN XY: 37308
GnomAD4 exome AF: 0.00000469 AC: 6AN: 1278918Hom.: 0 AF XY: 0.00000794 AC XY: 5AN XY: 630064
GnomAD4 genome ? Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at