21-34370747-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_172201.2(KCNE2):c.269A>G(p.Glu90Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_172201.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNE2 | NM_172201.2 | c.269A>G | p.Glu90Gly | missense_variant | Exon 2 of 2 | ENST00000290310.4 | NP_751951.1 | |
LOC105372791 | NR_188571.1 | n.540T>C | non_coding_transcript_exon_variant | Exon 2 of 3 | ||||
LOC105372791 | NR_188572.1 | n.540T>C | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Atrial fibrillation Other:1
This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:18006559). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at