14-63006474-TGG-TGGG
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_139318.5(KCNH5):c.198-3dupC variant causes a splice region, intron change. The variant allele was found at a frequency of 0.000055 in 1,564,528 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_139318.5 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNH5 | NM_139318.5 | c.198-3dupC | splice_region_variant, intron_variant | Intron 2 of 10 | ENST00000322893.12 | NP_647479.2 | ||
KCNH5 | NM_172375.3 | c.198-3dupC | splice_region_variant, intron_variant | Intron 2 of 9 | NP_758963.1 | |||
KCNH5 | XM_047431275.1 | c.198-3dupC | splice_region_variant, intron_variant | Intron 2 of 9 | XP_047287231.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNH5 | ENST00000322893.12 | c.198-3_198-2insC | splice_region_variant, intron_variant | Intron 2 of 10 | 1 | NM_139318.5 | ENSP00000321427.7 | |||
KCNH5 | ENST00000420622.6 | c.198-3_198-2insC | splice_region_variant, intron_variant | Intron 2 of 9 | 1 | ENSP00000395439.2 | ||||
KCNH5 | ENST00000394964.3 | n.363-3_363-2insC | splice_region_variant, intron_variant | Intron 2 of 6 | 1 | |||||
KCNH5 | ENST00000394968.2 | c.24-3_24-2insC | splice_region_variant, intron_variant | Intron 2 of 10 | 2 | ENSP00000378419.1 |
Frequencies
GnomAD3 genomes AF: 0.0000529 AC: 8AN: 151262Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000552 AC: 78AN: 1413266Hom.: 0 Cov.: 23 AF XY: 0.0000468 AC XY: 33AN XY: 704984
GnomAD4 genome AF: 0.0000529 AC: 8AN: 151262Hom.: 0 Cov.: 33 AF XY: 0.0000406 AC XY: 3AN XY: 73866
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
- -
KCNH5-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at