chr21-32274840-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018944.3(MIS18A):c.391G>A(p.Glu131Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00019 in 1,611,696 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_018944.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIS18A | NM_018944.3 | c.391G>A | p.Glu131Lys | missense_variant | Exon 2 of 5 | ENST00000290130.4 | NP_061817.1 | |
MIS18A | XM_017028400.2 | c.391G>A | p.Glu131Lys | missense_variant | Exon 2 of 5 | XP_016883889.1 | ||
MIS18A | XM_017028401.2 | c.391G>A | p.Glu131Lys | missense_variant | Exon 2 of 5 | XP_016883890.1 | ||
MIS18A | XR_002958619.2 | n.426G>A | non_coding_transcript_exon_variant | Exon 2 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000919 AC: 23AN: 250352Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135356
GnomAD4 exome AF: 0.000202 AC: 295AN: 1459524Hom.: 0 Cov.: 29 AF XY: 0.000174 AC XY: 126AN XY: 726188
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391G>A (p.E131K) alteration is located in exon 2 (coding exon 2) of the MIS18A gene. This alteration results from a G to A substitution at nucleotide position 391, causing the glutamic acid (E) at amino acid position 131 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