rs1939748
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001136506.2(SLC22A24):āc.173C>Gā(p.Thr58Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.834 in 1,574,552 control chromosomes in the GnomAD database, including 551,601 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001136506.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC22A24 | NM_001136506.2 | c.173C>G | p.Thr58Ser | missense_variant | 1/10 | ENST00000612278.4 | |
SLC22A24 | NM_173586.3 | c.173C>G | p.Thr58Ser | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A24 | ENST00000612278.4 | c.173C>G | p.Thr58Ser | missense_variant | 1/10 | 5 | NM_001136506.2 | P4 | |
SLC22A24 | ENST00000326192.5 | c.173C>G | p.Thr58Ser | missense_variant | 1/4 | 1 | |||
SLC22A24 | ENST00000417740.5 | c.173C>G | p.Thr58Ser | missense_variant | 1/10 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.761 AC: 115589AN: 151964Hom.: 45532 Cov.: 31
GnomAD3 exomes AF: 0.836 AC: 180972AN: 216350Hom.: 76583 AF XY: 0.840 AC XY: 98060AN XY: 116760
GnomAD4 exome AF: 0.842 AC: 1197282AN: 1422470Hom.: 506064 Cov.: 51 AF XY: 0.842 AC XY: 594048AN XY: 705606
GnomAD4 genome ? AF: 0.760 AC: 115622AN: 152082Hom.: 45537 Cov.: 31 AF XY: 0.763 AC XY: 56729AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at