2-130191892-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_207312.3(TUBA3E):c.1292A>G(p.Asp431Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000725 in 1,613,658 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_207312.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152026Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000676 AC: 17AN: 251444 AF XY: 0.0000736 show subpopulations
GnomAD4 exome AF: 0.0000705 AC: 103AN: 1461632Hom.: 0 Cov.: 75 AF XY: 0.0000619 AC XY: 45AN XY: 727098 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152026Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74246 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1292A>G (p.D431G) alteration is located in exon 5 (coding exon 5) of the TUBA3E gene. This alteration results from a A to G substitution at nucleotide position 1292, causing the aspartic acid (D) at amino acid position 431 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