rs12621643
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_080671.4(KCNE4):c.435T>A(p.Asp145Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,613,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_080671.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNE4 | NM_080671.4 | c.435T>A | p.Asp145Glu | missense_variant | 2/2 | ENST00000281830.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNE4 | ENST00000281830.4 | c.435T>A | p.Asp145Glu | missense_variant | 2/2 | 1 | NM_080671.4 | P1 | |
KCNE4 | ENST00000488477.2 | n.75+991T>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151934Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249704Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135344
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461574Hom.: 0 Cov.: 61 AF XY: 0.0000206 AC XY: 15AN XY: 727100
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151934Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74202
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at