17-21703213-AC-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001194958.2(KCNJ18):c.429del(p.Ile144SerfsTer8) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as risk factor (no stars).
Frequency
Genomes: not found (cov: 36)
Consequence
KCNJ18
NM_001194958.2 frameshift
NM_001194958.2 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 6.58
Genes affected
KCNJ18 (HGNC:39080): (potassium inwardly rectifying channel subfamily J member 18) This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
|---|---|---|---|---|---|---|---|
| KCNJ18 | NM_001194958.2 | c.429del | p.Ile144SerfsTer8 | frameshift_variant | 3/3 | ENST00000567955.3 | |
| KCNJ18 | XM_005276919.4 | c.735del | p.Ile246SerfsTer8 | frameshift_variant | 2/2 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| KCNJ18 | ENST00000567955.3 | c.429del | p.Ile144SerfsTer8 | frameshift_variant | 3/3 | 1 | NM_001194958.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 36
GnomAD3 genomes
?
Cov.:
36
GnomAD4 exome Cov.: 128
GnomAD4 exome
Cov.:
128
GnomAD4 genome ? Cov.: 36
GnomAD4 genome
?
Cov.:
36
ClinVar
Significance: risk factor
Submissions summary: Other:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Thyrotoxic periodic paralysis, susceptibility to, 2 Other:1
| risk factor, no assertion criteria provided | literature only | OMIM | Jan 08, 2010 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at