rs149753564
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_182632.3(SLC6A18):āc.127C>Gā(p.Arg43Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000744 in 1,604,440 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_182632.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000906 AC: 138AN: 152234Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.00113 AC: 271AN: 239258Hom.: 1 AF XY: 0.00112 AC XY: 145AN XY: 128970
GnomAD4 exome AF: 0.000727 AC: 1056AN: 1452088Hom.: 6 Cov.: 35 AF XY: 0.000722 AC XY: 521AN XY: 721758
GnomAD4 genome AF: 0.000906 AC: 138AN: 152352Hom.: 0 Cov.: 35 AF XY: 0.00111 AC XY: 83AN XY: 74508
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at