7-150977888-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000238.4(KCNH2):c.26C>A(p.Ala9Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,455,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000238.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNH2 | NM_000238.4 | c.26C>A | p.Ala9Glu | missense_variant | Exon 1 of 15 | ENST00000262186.10 | NP_000229.1 | |
KCNH2 | NM_172056.3 | c.26C>A | p.Ala9Glu | missense_variant | Exon 1 of 9 | NP_742053.1 | ||
KCNH2 | NR_176254.1 | n.434C>A | non_coding_transcript_exon_variant | Exon 1 of 15 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455856Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 724150
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.