17-21703441-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001194958.2(KCNJ18):c.655C>G(p.Arg219Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,300 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 9/15 in silico tools predict a damaging outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R219C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001194958.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ18 | NM_001194958.2 | c.655C>G | p.Arg219Gly | missense_variant | 3/3 | ENST00000567955.3 | |
KCNJ18 | XM_005276919.4 | c.961C>G | p.Arg321Gly | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ18 | ENST00000567955.3 | c.655C>G | p.Arg219Gly | missense_variant | 3/3 | 1 | NM_001194958.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152300Hom.: 0 Cov.: 53
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000164 AC: 24AN: 1460738Hom.: 0 Cov.: 220 AF XY: 0.0000110 AC XY: 8AN XY: 726680
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152300Hom.: 0 Cov.: 53 AF XY: 0.0000134 AC XY: 1AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at