18-48992-A-G
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Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001389610.1(TUBB8B):āc.149T>Cā(p.Leu50Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 4/4 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Genomes: š 0.00042 ( 0 hom., cov: 31)
Exomes š: 0.000027 ( 2 hom. )
Failed GnomAD Quality Control
Consequence
TUBB8B
NM_001389610.1 missense
NM_001389610.1 missense
Scores
2
Clinical Significance
Conservation
PhyloP100: -3.65
Genes affected
TUBB8B (HGNC:24983): (tubulin beta 8B) Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.68).
BP6
Variant 18-48992-A-G is Benign according to our data. Variant chr18-48992-A-G is described in ClinVar as [Likely_benign]. Clinvar id is 2648508.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TUBB8B | NM_001358689.2 | c.225T>C | p.Ser75Ser | synonymous_variant | 3/4 | ENST00000308911.9 | NP_001345618.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 60AN: 146990Hom.: 0 Cov.: 31 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000268 AC: 39AN: 1454596Hom.: 2 Cov.: 32 AF XY: 0.0000249 AC XY: 18AN XY: 723796
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000422 AC: 62AN: 147090Hom.: 0 Cov.: 31 AF XY: 0.000488 AC XY: 35AN XY: 71736
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | TUBB8B: BP4, BP7 - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at