20-44006614-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001098797.2(TOX2):c.233C>T(p.Pro78Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000539 in 1,614,018 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001098797.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TOX2 | ENST00000341197.9 | c.233C>T | p.Pro78Leu | missense_variant | Exon 3 of 9 | 2 | NM_001098797.2 | ENSP00000344724.3 | ||
TOX2 | ENST00000372999.5 | c.107C>T | p.Pro36Leu | missense_variant | Exon 4 of 10 | 1 | ENSP00000362090.1 | |||
TOX2 | ENST00000358131.5 | c.260C>T | p.Pro87Leu | missense_variant | Exon 3 of 8 | 2 | ENSP00000350849.5 | |||
TOX2 | ENST00000423191.6 | c.107C>T | p.Pro36Leu | missense_variant | Exon 3 of 9 | 2 | ENSP00000390278.1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251352Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135856
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 727230
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.233C>T (p.P78L) alteration is located in exon 3 (coding exon 3) of the TOX2 gene. This alteration results from a C to T substitution at nucleotide position 233, causing the proline (P) at amino acid position 78 to be replaced by a leucine (L). 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