6-30721970-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 1P and 9B. PP2BP4_StrongBP6BS2
The NM_001293212.2(TUBB):āc.92A>Gā(p.His31Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000101 in 865,360 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001293212.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 15AN: 152024Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000883 AC: 63AN: 713218Hom.: 1 Cov.: 9 AF XY: 0.0000513 AC XY: 17AN XY: 331600
GnomAD4 genome AF: 0.000158 AC: 24AN: 152142Hom.: 2 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74390
ClinVar
Submissions by phenotype
TUBB-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 29, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at