rs527236154
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001194958.2(KCNJ18):c.502G>A(p.Val168Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000385 in 1,608,746 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ18 | NM_001194958.2 | c.502G>A | p.Val168Met | missense_variant | 3/3 | ENST00000567955.3 | |
KCNJ18 | XM_005276919.4 | c.808G>A | p.Val270Met | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ18 | ENST00000567955.3 | c.502G>A | p.Val168Met | missense_variant | 3/3 | 1 | NM_001194958.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152136Hom.: 0 Cov.: 35
GnomAD4 exome AF: 0.0000364 AC: 53AN: 1456494Hom.: 0 Cov.: 128 AF XY: 0.0000345 AC XY: 25AN XY: 723846
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152252Hom.: 0 Cov.: 35 AF XY: 0.0000269 AC XY: 2AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at