chr6-30720290-C-G
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000681435.1(TUBB):c.-159-2247C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0447 in 619,258 control chromosomes in the GnomAD database, including 1,432 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.080 ( 934 hom., cov: 32)
Exomes 𝑓: 0.033 ( 498 hom. )
Consequence
TUBB
ENST00000681435.1 intron
ENST00000681435.1 intron
Scores
1
1
Clinical Significance
Conservation
PhyloP100: 0.322
Genes affected
TUBB (HGNC:20778): (tubulin beta class I) This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.48).
BP6
Variant 6-30720290-C-G is Benign according to our data. Variant chr6-30720290-C-G is described in ClinVar as [Benign]. Clinvar id is 1233701.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.196 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TUBB | ENST00000681435.1 | c.-159-2247C>G | intron_variant | ENSP00000506665 |
Frequencies
GnomAD3 genomes AF: 0.0794 AC: 12083AN: 152100Hom.: 930 Cov.: 32
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GnomAD4 exome AF: 0.0334 AC: 15593AN: 467040Hom.: 498 Cov.: 4 AF XY: 0.0313 AC XY: 7771AN XY: 248184
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GnomAD4 genome AF: 0.0796 AC: 12110AN: 152218Hom.: 934 Cov.: 32 AF XY: 0.0757 AC XY: 5634AN XY: 74422
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 30, 2018 | - - |
Computational scores
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Benign
CADD
Benign
DANN
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at