12-22255296-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003034.4(ST8SIA1):c.475G>A(p.Ala159Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000157 in 1,614,072 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 (★).
Frequency
Consequence
NM_003034.4 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: 0.0000920 AC: 14AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251372Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135850
GnomAD4 exome AF: 0.000164 AC: 240AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.000161 AC XY: 117AN XY: 727224
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>A (p.A159T) alteration is located in exon 3 (coding exon 3) of the ST8SIA1 gene. This alteration results from a G to A substitution at nucleotide position 475, causing the alanine (A) at amino acid position 159 to be replaced by a threonine (T). 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