chr3-36483045-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003149.3(STAC):c.442C>T(p.His148Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,614,042 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_003149.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251068Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135676
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461854Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 727240
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.442C>T (p.H148Y) alteration is located in exon 3 (coding exon 3) of the STAC gene. This alteration results from a C to T substitution at nucleotide position 442, causing the histidine (H) at amino acid position 148 to be replaced by a tyrosine (Y). 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