2-70212723-TG-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022173.4(TIA1):c.1156delC(p.Gln386SerfsTer3) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022173.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Welander distal myopathy Uncertain:1
This sequence change deletes 1 nucleotides from exon 13 of the TIA1 mRNA (c.1156delC), causing a frameshift at codon 386. This creates a translational stop signal in the 3' UTR of the TIA1 mRNA (p.Gln386Serfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to result in deletion of the last amino acid and replacing it with 2 incorrect amino acids and disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TIA1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TIA1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at