rs527236155
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_001194958.2(KCNJ18):c.598G>A(p.Ala200Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000525 in 152,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001194958.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ18 | NM_001194958.2 | c.598G>A | p.Ala200Thr | missense_variant | 3/3 | ENST00000567955.3 | |
KCNJ18 | XM_005276919.4 | c.904G>A | p.Ala302Thr | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ18 | ENST00000567955.3 | c.598G>A | p.Ala200Thr | missense_variant | 3/3 | 1 | NM_001194958.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000525 AC: 8AN: 152296Hom.: 0 Cov.: 49
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000535 AC: 78AN: 1457912Hom.: 0 Cov.: 149 AF XY: 0.0000510 AC XY: 37AN XY: 725160
GnomAD4 genome ? AF: 0.0000525 AC: 8AN: 152296Hom.: 0 Cov.: 49 AF XY: 0.0000269 AC XY: 2AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at