NM_013432.5:c.1477G>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013432.5(TONSL):āc.1477G>Cā(p.Gly493Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G493S) has been classified as Likely benign.
Frequency
Consequence
NM_013432.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TONSL | ENST00000409379.8 | c.1477G>C | p.Gly493Arg | missense_variant | Exon 11 of 26 | 1 | NM_013432.5 | ENSP00000386239.3 | ||
TONSL | ENST00000497613.2 | n.2452G>C | non_coding_transcript_exon_variant | Exon 3 of 17 | 2 | |||||
TONSL-AS1 | ENST00000442850.1 | n.*53C>G | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1074994Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 551844
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at