NM_152709.5:c.149A>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_152709.5(STOX1):c.149A>C(p.Asn50Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152709.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 3AN: 89234Hom.: 0 Cov.: 11 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000556 AC: 31AN: 557626Hom.: 0 Cov.: 7 AF XY: 0.0000382 AC XY: 10AN XY: 262004
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000336 AC: 3AN: 89310Hom.: 0 Cov.: 11 AF XY: 0.0000230 AC XY: 1AN XY: 43504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.149A>C (p.N50T) alteration is located in exon 1 (coding exon 1) of the STOX1 gene. This alteration results from a A to C substitution at nucleotide position 149, causing the asparagine (N) at amino acid position 50 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