17-1585932-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152346.3(SLC43A2):c.1198G>A(p.Glu400Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000184 in 1,613,598 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_152346.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000640 AC: 16AN: 250010Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135504
GnomAD4 exome AF: 0.000194 AC: 284AN: 1461372Hom.: 0 Cov.: 34 AF XY: 0.000154 AC XY: 112AN XY: 726978
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152226Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1198G>A (p.E400K) alteration is located in exon 10 (coding exon 9) of the SLC43A2 gene. This alteration results from a G to A substitution at nucleotide position 1198, causing the glutamic acid (E) at amino acid position 400 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