chr11-63143607-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136506.2(SLC22A24):c.173C>A(p.Thr58Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/18 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC22A24 | NM_001136506.2 | c.173C>A | p.Thr58Asn | missense_variant | 1/10 | ENST00000612278.4 | |
SLC22A24 | NM_173586.3 | c.173C>A | p.Thr58Asn | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A24 | ENST00000612278.4 | c.173C>A | p.Thr58Asn | missense_variant | 1/10 | 5 | NM_001136506.2 | P4 | |
SLC22A24 | ENST00000326192.5 | c.173C>A | p.Thr58Asn | missense_variant | 1/4 | 1 | |||
SLC22A24 | ENST00000417740.5 | c.173C>A | p.Thr58Asn | missense_variant | 1/10 | 5 | A1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1423006Hom.: 0 Cov.: 51 AF XY: 0.00 AC XY: 0AN XY: 705896
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at