rs45516097
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000890.5(KCNJ5):c.937+7C>A variant causes a splice region, intron 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. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000890.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ5 | NM_000890.5 | c.937+7C>A | splice_region_variant, intron_variant | ENST00000529694.6 | |||
KCNJ5 | NM_001354169.2 | c.937+7C>A | splice_region_variant, intron_variant | ||||
KCNJ5 | XM_011542810.4 | c.937+7C>A | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ5 | ENST00000529694.6 | c.937+7C>A | splice_region_variant, intron_variant | 1 | NM_000890.5 | P1 | |||
KCNJ5 | ENST00000338350.4 | c.937+7C>A | splice_region_variant, intron_variant | 1 | P1 | ||||
KCNJ5 | ENST00000533599.1 | c.937+7C>A | splice_region_variant, intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at