2-70212723-T-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_022173.4(TIA1):āc.1157A>Cā(p.Gln386Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000561 in 1,605,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022173.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251450Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.00000551 AC: 8AN: 1452728Hom.: 0 Cov.: 28 AF XY: 0.00000276 AC XY: 2AN XY: 723482
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74512
ClinVar
Submissions by phenotype
Welander distal myopathy Uncertain:1
This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 386 of the TIA1 protein (p.Gln386Pro). This variant is present in population databases (rs199700349, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1406976). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at