16-1974580-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006453.3(TBL3):c.280G>A(p.Ala94Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000912 in 1,611,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006453.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152236Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248902Hom.: 0 AF XY: 0.0000667 AC XY: 9AN XY: 134948
GnomAD4 exome AF: 0.0000953 AC: 139AN: 1458764Hom.: 0 Cov.: 36 AF XY: 0.0000813 AC XY: 59AN XY: 725270
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152236Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.280G>A (p.A94T) alteration is located in exon 5 (coding exon 5) of the TBL3 gene. This alteration results from a G to A substitution at nucleotide position 280, causing the alanine (A) at amino acid position 94 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