9-137241372-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_006088.6(TUBB4B):c.12C>T(p.Ile4Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000679 in 1,603,276 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_006088.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152184Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00158 AC: 370AN: 233962Hom.: 6 AF XY: 0.00219 AC XY: 283AN XY: 129238
GnomAD4 exome AF: 0.000711 AC: 1032AN: 1450974Hom.: 17 Cov.: 32 AF XY: 0.00107 AC XY: 771AN XY: 722230
GnomAD4 genome AF: 0.000368 AC: 56AN: 152302Hom.: 1 Cov.: 33 AF XY: 0.000497 AC XY: 37AN XY: 74486
ClinVar
Submissions by phenotype
TUBB4B-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at