9-19528071-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020344.4(SLC24A2):c.1547T>G(p.Leu516Trp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000346 in 1,443,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020344.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC24A2 | ENST00000341998.7 | c.1547T>G | p.Leu516Trp | missense_variant | Exon 9 of 11 | 1 | NM_020344.4 | ENSP00000344801.1 | ||
SLC24A2 | ENST00000286344.4 | c.1496T>G | p.Leu499Trp | missense_variant | Exon 8 of 10 | 1 | ENSP00000286344.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000133 AC: 3AN: 226146Hom.: 0 AF XY: 0.00000829 AC XY: 1AN XY: 120686
GnomAD4 exome AF: 0.00000346 AC: 5AN: 1443980Hom.: 0 Cov.: 30 AF XY: 0.00000279 AC XY: 2AN XY: 716062
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1547T>G (p.L516W) alteration is located in exon 8 (coding exon 8) of the SLC24A2 gene. This alteration results from a T to G substitution at nucleotide position 1547, causing the leucine (L) at amino acid position 516 to be replaced by a tryptophan (W). 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