rs540291475
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000890.5(KCNJ5):c.492G>C(p.Gly164=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G164G) has been classified as Likely benign.
Frequency
Consequence
NM_000890.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ5 | NM_000890.5 | c.492G>C | p.Gly164= | synonymous_variant | 2/3 | ENST00000529694.6 | |
KCNJ5 | NM_001354169.2 | c.492G>C | p.Gly164= | synonymous_variant | 3/4 | ||
KCNJ5 | XM_011542810.4 | c.492G>C | p.Gly164= | synonymous_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ5 | ENST00000529694.6 | c.492G>C | p.Gly164= | synonymous_variant | 2/3 | 1 | NM_000890.5 | P1 | |
KCNJ5 | ENST00000338350.4 | c.492G>C | p.Gly164= | synonymous_variant | 3/4 | 1 | P1 | ||
KCNJ5 | ENST00000533599.1 | c.492G>C | p.Gly164= | synonymous_variant | 1/2 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 59
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at