rs527236151
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001194958.2(KCNJ18):c.127C>T(p.Arg43Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000544 in 1,594,154 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
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNJ18 | NM_001194958.2 | c.127C>T | p.Arg43Cys | missense_variant | 3/3 | ENST00000567955.3 | NP_001181887.2 | |
KCNJ18 | XM_005276919.4 | c.433C>T | p.Arg145Cys | missense_variant | 2/2 | XP_005276976.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNJ18 | ENST00000567955.3 | c.127C>T | p.Arg43Cys | missense_variant | 3/3 | 1 | NM_001194958.2 | ENSP00000457807.2 |
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152120Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.000562 AC: 811AN: 1441916Hom.: 0 Cov.: 72 AF XY: 0.000597 AC XY: 428AN XY: 716336
GnomAD4 genome AF: 0.000368 AC: 56AN: 152238Hom.: 0 Cov.: 34 AF XY: 0.000470 AC XY: 35AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at