chr14-23347711-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016609.7(SLC22A17):c.1298G>A(p.Arg433His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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.1298G>A | p.Arg433His | missense_variant | 8/10 | ENST00000354772.10 | |
SLC22A17 | NM_020372.4 | c.1298G>A | p.Arg433His | missense_variant | 8/10 | ||
SLC22A17 | NM_001289050.1 | c.311G>A | p.Arg104His | missense_variant | 7/9 | ||
SLC22A17 | NR_110290.2 | n.1109G>A | non_coding_transcript_exon_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A17 | ENST00000354772.10 | c.1298G>A | p.Arg433His | missense_variant | 8/10 | 1 | NM_016609.7 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152050Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250534Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135480
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461580Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727072
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152050Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.965G>A (p.R322H) alteration is located in exon 7 (coding exon 7) of the SLC22A17 gene. This alteration results from a G to A substitution at nucleotide position 965, causing the arginine (R) at amino acid position 322 to be replaced by a histidine (H). 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