1-46562669-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001135553.4(MKNK1):c.784G>A(p.Glu262Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000309 in 1,555,470 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_001135553.4 missense
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
MKNK1 | ENST00000371945.10 | c.784G>A | p.Glu262Lys | missense_variant | Exon 10 of 13 | 1 | NM_001135553.4 | ENSP00000361013.5 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152170Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000369 AC: 6AN: 162482Hom.: 0 AF XY: 0.0000350 AC XY: 3AN XY: 85806
GnomAD4 exome AF: 0.0000178 AC: 25AN: 1403300Hom.: 0 Cov.: 31 AF XY: 0.0000130 AC XY: 9AN XY: 692554
GnomAD4 genome AF: 0.000151 AC: 23AN: 152170Hom.: 0 Cov.: 31 AF XY: 0.000161 AC XY: 12AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.943G>A (p.E315K) alteration is located in exon 11 (coding exon 10) of the MKNK1 gene. This alteration results from a G to A substitution at nucleotide position 943, causing the glutamic acid (E) at amino acid position 315 to be replaced by a lysine (K). 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