chr6-3224759-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PP2PP5BP4
The NM_178012.5(TUBB2B):c.1330G>A(p.Glu444Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. E444E) has been classified as Likely benign.
Frequency
Consequence
NM_178012.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBB2B | NM_178012.5 | c.1330G>A | p.Glu444Lys | missense_variant | Exon 4 of 4 | ENST00000259818.8 | NP_821080.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000137 AC: 2AN: 1461754Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727162
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Complex cortical dysplasia with other brain malformations 7 Pathogenic:1
Variant confirmed as disease-causing by referring clinical team -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.