17-42663050-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM2PP3
The NM_016437.3(TUBG2):c.477C>T(p.Asp159Asp) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,622 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016437.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBG2 | NM_016437.3 | c.477C>T | p.Asp159Asp | splice_region_variant, synonymous_variant | Exon 5 of 11 | ENST00000251412.8 | NP_057521.1 | |
TUBG2 | NM_001320509.2 | c.504C>T | p.Asp168Asp | splice_region_variant, synonymous_variant | Exon 6 of 12 | NP_001307438.1 | ||
TUBG2 | XM_047435757.1 | c.21-327C>T | intron_variant | Intron 2 of 7 | XP_047291713.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD2 exomes AF: 0.00000796 AC: 2AN: 251110 AF XY: 0.00000737 show subpopulations
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461622Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727148 show subpopulations
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at