11-2909704-CG-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BS1BS2
The NM_002555.6(SLC22A18):c.531delG(p.Tyr178ThrfsTer51) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000879 in 1,529,200 control chromosomes in the GnomAD database, including 11 homozygotes. Variant has been reported in ClinVar as Benign (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_002555.6 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00464 AC: 705AN: 151966Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.000738 AC: 94AN: 127446Hom.: 0 AF XY: 0.000605 AC XY: 43AN XY: 71050
GnomAD4 exome AF: 0.000462 AC: 636AN: 1377112Hom.: 4 Cov.: 35 AF XY: 0.000412 AC XY: 280AN XY: 679912
GnomAD4 genome AF: 0.00466 AC: 708AN: 152088Hom.: 7 Cov.: 33 AF XY: 0.00442 AC XY: 329AN XY: 74354
ClinVar
Submissions by phenotype
SLC22A18-related disorder Benign:1
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