8-58815703-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014729.3(TOX):c.1027G>A(p.Val343Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000391 in 1,612,142 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 (★).
Frequency
Consequence
NM_014729.3 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: 0.000138 AC: 21AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000724 AC: 18AN: 248510Hom.: 0 AF XY: 0.0000745 AC XY: 10AN XY: 134224
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1460068Hom.: 0 Cov.: 31 AF XY: 0.0000386 AC XY: 28AN XY: 726222
GnomAD4 genome AF: 0.000138 AC: 21AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1027G>A (p.V343M) alteration is located in exon 7 (coding exon 7) of the TOX gene. This alteration results from a G to A substitution at nucleotide position 1027, causing the valine (V) at amino acid position 343 to be replaced by a methionine (M). 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