11-63080927-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001136506.2(SLC22A24):c.1591G>A(p.Glu531Lys) 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. 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 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC22A24 | ENST00000612278.4 | c.1591G>A | p.Glu531Lys | missense_variant | Exon 9 of 10 | 5 | NM_001136506.2 | ENSP00000480336.1 | ||
SLC22A24 | ENST00000417740.5 | c.1591G>A | p.Glu531Lys | missense_variant | Exon 9 of 10 | 5 | ENSP00000396586.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1591G>A (p.E531K) alteration is located in exon 9 (coding exon 9) of the SLC22A24 gene. This alteration results from a G to A substitution at nucleotide position 1591, causing the glutamic acid (E) at amino acid position 531 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.