chr9-19550148-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020344.4(SLC24A2):c.1468G>A(p.Val490Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000039 in 1,613,862 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020344.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC24A2 | ENST00000341998.7 | c.1468G>A | p.Val490Ile | missense_variant | Exon 8 of 11 | 1 | NM_020344.4 | ENSP00000344801.1 | ||
SLC24A2 | ENST00000286344.4 | c.1417G>A | p.Val473Ile | missense_variant | Exon 7 of 10 | 1 | ENSP00000286344.3 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152042Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251482Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135916
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461702Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727174
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1468G>A (p.V490I) alteration is located in exon 7 (coding exon 7) of the SLC24A2 gene. This alteration results from a G to A substitution at nucleotide position 1468, causing the valine (V) at amino acid position 490 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