11-63083311-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136506.2(SLC22A24):c.1217G>A(p.Arg406Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000122 in 1,560,378 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136506.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC22A24 | ENST00000612278.4 | c.1217G>A | p.Arg406Gln | missense_variant | Exon 7 of 10 | 5 | NM_001136506.2 | ENSP00000480336.1 | ||
SLC22A24 | ENST00000417740.5 | c.1217G>A | p.Arg406Gln | missense_variant | Exon 7 of 10 | 5 | ENSP00000396586.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151990Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000297 AC: 5AN: 168602Hom.: 0 AF XY: 0.0000561 AC XY: 5AN XY: 89136
GnomAD4 exome AF: 0.0000114 AC: 16AN: 1408388Hom.: 0 Cov.: 31 AF XY: 0.00000719 AC XY: 5AN XY: 695490
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151990Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1217G>A (p.R406Q) alteration is located in exon 7 (coding exon 7) of the SLC22A24 gene. This alteration results from a G to A substitution at nucleotide position 1217, causing the arginine (R) at amino acid position 406 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at