2-219271517-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001355221.1(TUBA4B):c.544C>T(p.Arg182Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0191 in 1,614,144 control chromosomes in the GnomAD database, including 860 homozygotes. In-silico tool predicts a benign outcome for this variant. 7/11 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001355221.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBA4B | NM_001355221.1 | c.544C>T | p.Arg182Cys | missense_variant | Exon 4 of 4 | ENST00000490341.3 | NP_001342150.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0413 AC: 6287AN: 152146Hom.: 251 Cov.: 32
GnomAD3 exomes AF: 0.0256 AC: 6434AN: 251416Hom.: 232 AF XY: 0.0236 AC XY: 3206AN XY: 135898
GnomAD4 exome AF: 0.0168 AC: 24539AN: 1461880Hom.: 606 Cov.: 68 AF XY: 0.0163 AC XY: 11846AN XY: 727244
GnomAD4 genome AF: 0.0414 AC: 6308AN: 152264Hom.: 254 Cov.: 32 AF XY: 0.0415 AC XY: 3089AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at