chr17-21702905-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001194958.2(KCNJ18):c.119G>A(p.Arg40His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 1,531,558 control chromosomes in the GnomAD database, including 125,577 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001194958.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.395 AC: 59236AN: 149776Hom.: 12868 Cov.: 33
GnomAD4 exome AF: 0.429 AC: 592790AN: 1381654Hom.: 112702 Cov.: 73 AF XY: 0.434 AC XY: 297985AN XY: 686120
GnomAD4 genome AF: 0.395 AC: 59256AN: 149904Hom.: 12875 Cov.: 33 AF XY: 0.398 AC XY: 29178AN XY: 73222
ClinVar
Submissions by phenotype
KCNJ18-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 31, 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