chr9-137241340-C-CCCGCCGCCG
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_006088.6(TUBB4B):c.-12_-4dupGCCGCCGCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000176 in 1,590,700 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000026 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000017 ( 0 hom. )
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 Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAdExome4 at 24 AD gene.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151852Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000193 AC: 4AN: 206972Hom.: 0 AF XY: 0.0000260 AC XY: 3AN XY: 115516
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GnomAD4 exome AF: 0.0000167 AC: 24AN: 1438848Hom.: 0 Cov.: 31 AF XY: 0.0000140 AC XY: 10AN XY: 715924
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GnomAD4 genome AF: 0.0000263 AC: 4AN: 151852Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74166
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at