9-137241340-CCCGCCGCCG-CCCGCCGCCGCCGCCGCCGCCGCCG
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006088.6(TUBB4B):c.-18_-4dupGCCGCCGCCGCCGCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.000016 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
TUBB4B
NM_006088.6 5_prime_UTR
NM_006088.6 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.255
Genes affected
TUBB4B (HGNC:20771): (tubulin beta 4B class IVb) Enables double-stranded RNA binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule. Implicated in Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TUBB4B | ENST00000340384 | c.-18_-4dupGCCGCCGCCGCCGCC | 5_prime_UTR_variant | Exon 1 of 4 | 1 | NM_006088.6 | ENSP00000341289.4 | |||
TUBB4B | ENST00000604929.1 | n.56_70dupGCCGCCGCCGCCGCC | non_coding_transcript_exon_variant | Exon 1 of 3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000160 AC: 23AN: 1438846Hom.: 0 Cov.: 31 AF XY: 0.0000168 AC XY: 12AN XY: 715922
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
23
AN:
1438846
Hom.:
Cov.:
31
AF XY:
AC XY:
12
AN XY:
715922
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GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at