14-23347132-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016609.7(SLC22A17):c.1576C>A(p.Leu526Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L526F) has been classified as Uncertain significance.
Frequency
Consequence
NM_016609.7 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 |
---|---|---|---|---|---|---|---|
SLC22A17 | NM_016609.7 | c.1576C>A | p.Leu526Ile | missense_variant | 9/10 | ENST00000354772.10 | |
SLC22A17 | NM_020372.4 | c.1630C>A | p.Leu544Ile | missense_variant | 9/10 | ||
SLC22A17 | NM_001289050.1 | c.589C>A | p.Leu197Ile | missense_variant | 8/9 | ||
SLC22A17 | NR_110290.2 | n.1387C>A | non_coding_transcript_exon_variant | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A17 | ENST00000354772.10 | c.1576C>A | p.Leu526Ile | missense_variant | 9/10 | 1 | NM_016609.7 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 249106Hom.: 0 AF XY: 0.0000814 AC XY: 11AN XY: 135058
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461518Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727048
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2023 | The c.1297C>A (p.L433I) alteration is located in exon 8 (coding exon 8) of the SLC22A17 gene. This alteration results from a C to A substitution at nucleotide position 1297, causing the leucine (L) at amino acid position 433 to be replaced by an isoleucine (I). 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