rs387906778
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_000890.5(KCNJ5):c.472A>G(p.Thr158Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T158R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000890.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ5 | NM_000890.5 | c.472A>G | p.Thr158Ala | missense_variant | 2/3 | ENST00000529694.6 | |
KCNJ5 | NM_001354169.2 | c.472A>G | p.Thr158Ala | missense_variant | 3/4 | ||
KCNJ5 | XM_011542810.4 | c.472A>G | p.Thr158Ala | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ5 | ENST00000529694.6 | c.472A>G | p.Thr158Ala | missense_variant | 2/3 | 1 | NM_000890.5 | P1 | |
KCNJ5 | ENST00000338350.4 | c.472A>G | p.Thr158Ala | missense_variant | 3/4 | 1 | P1 | ||
KCNJ5 | ENST00000533599.1 | c.472A>G | p.Thr158Ala | missense_variant | 1/2 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 58
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Aldosterone-producing adrenal adenoma, somatic Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 25, 2014 | - - |
Familial hyperaldosteronism type III Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 25, 2014 | - - |
Andersen Tawil syndrome Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at