22-31440752-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_019843.4(EIF4ENIF1):c.2668G>A(p.Gly890Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000886 in 1,613,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019843.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF4ENIF1 | NM_019843.4 | c.2668G>A | p.Gly890Arg | missense_variant | Exon 18 of 19 | ENST00000330125.10 | NP_062817.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 251176Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135744
GnomAD4 exome AF: 0.0000896 AC: 131AN: 1461682Hom.: 0 Cov.: 31 AF XY: 0.000120 AC XY: 87AN XY: 727152
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2668G>A (p.G890R) alteration is located in exon 18 (coding exon 17) of the EIF4ENIF1 gene. This alteration results from a G to A substitution at nucleotide position 2668, causing the glycine (G) at amino acid position 890 to be replaced by an arginine (R). 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