chr8-144429228-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013432.5(TONSL):c.4052C>G(p.Ala1351Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,383,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013432.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TONSL | NM_013432.5 | c.4052C>G | p.Ala1351Gly | missense_variant | 26/26 | ENST00000409379.8 | |
TONSL | XM_011517048.3 | c.3080C>G | p.Ala1027Gly | missense_variant | 19/19 | ||
TONSL | XM_011517049.3 | c.3044C>G | p.Ala1015Gly | missense_variant | 19/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TONSL | ENST00000409379.8 | c.4052C>G | p.Ala1351Gly | missense_variant | 26/26 | 1 | NM_013432.5 | P1 | |
TONSL | ENST00000497613.2 | n.6154C>G | non_coding_transcript_exon_variant | 17/17 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.0000137 AC: 19AN: 1383690Hom.: 0 Cov.: 31 AF XY: 0.0000103 AC XY: 7AN XY: 682520
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 09, 2022 | The c.4052C>G (p.A1351G) alteration is located in exon 26 (coding exon 26) of the TONSL gene. This alteration results from a C to G substitution at nucleotide position 4052, causing the alanine (A) at amino acid position 1351 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.