rs6590357
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000890.5(KCNJ5):c.171T>A(p.Ser57Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,894 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S57S) has been classified as Benign.
Frequency
Consequence
NM_000890.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ5 | NM_000890.5 | c.171T>A | p.Ser57Arg | missense_variant | 2/3 | ENST00000529694.6 | |
KCNJ5 | NM_001354169.2 | c.171T>A | p.Ser57Arg | missense_variant | 3/4 | ||
KCNJ5 | XM_011542810.4 | c.171T>A | p.Ser57Arg | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ5 | ENST00000529694.6 | c.171T>A | p.Ser57Arg | missense_variant | 2/3 | 1 | NM_000890.5 | P1 | |
KCNJ5 | ENST00000338350.4 | c.171T>A | p.Ser57Arg | missense_variant | 3/4 | 1 | P1 | ||
KCNJ5 | ENST00000533599.1 | c.171T>A | p.Ser57Arg | missense_variant | 1/2 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152162Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461894Hom.: 0 Cov.: 80 AF XY: 0.00000138 AC XY: 1AN XY: 727248
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at