rs146448995
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_187841.3(TRIM54):c.394G>T(p.Glu132*) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000188 in 1,613,670 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 (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_187841.3 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251408Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135888
GnomAD4 exome AF: 0.000172 AC: 251AN: 1461482Hom.: 0 Cov.: 32 AF XY: 0.000168 AC XY: 122AN XY: 727030
GnomAD4 genome AF: 0.000342 AC: 52AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.000471 AC XY: 35AN XY: 74358
ClinVar
Submissions by phenotype
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at