rs79489451
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_139318.5(KCNH5):c.1369+7A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0014 in 1,612,270 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/2 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
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNH5 | NM_139318.5 | c.1369+7A>G | splice_region_variant, intron_variant | ENST00000322893.12 | |||
KCNH5 | NM_172375.3 | c.1369+7A>G | splice_region_variant, intron_variant | ||||
KCNH5 | XM_047431275.1 | c.1369+7A>G | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNH5 | ENST00000322893.12 | c.1369+7A>G | splice_region_variant, intron_variant | 1 | NM_139318.5 | P1 | |||
KCNH5 | ENST00000420622.6 | c.1369+7A>G | splice_region_variant, intron_variant | 1 | |||||
KCNH5 | ENST00000394964.3 | n.1541A>G | non_coding_transcript_exon_variant | 7/7 | 1 | ||||
KCNH5 | ENST00000394968.2 | c.1195+7A>G | splice_region_variant, intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00761 AC: 1158AN: 152124Hom.: 11 Cov.: 31
GnomAD3 exomes AF: 0.00205 AC: 511AN: 249754Hom.: 7 AF XY: 0.00169 AC XY: 228AN XY: 135038
GnomAD4 exome AF: 0.000756 AC: 1104AN: 1460028Hom.: 10 Cov.: 30 AF XY: 0.000651 AC XY: 473AN XY: 726330
GnomAD4 genome ? AF: 0.00762 AC: 1160AN: 152242Hom.: 11 Cov.: 31 AF XY: 0.00730 AC XY: 543AN XY: 74432
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 23, 2020 | - - |
Early infantile epileptic encephalopathy with suppression bursts Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
KCNH5-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 15, 2019 | This variant is classified as 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