rs370341505
- chr9-137241340-CCCGCCGCCG-C
- chr9-137241340-CCCGCCGCCG-CCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCGCCGCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCGCCGCCGCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCGCCGCCGCCGCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCGCCGCCGCCGCCGCCG
- chr9-137241340-CCCGCCGCCG-CCCGCCGCCGCCGCCGCCGCCGCCG
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_006088.6(TUBB4B):c.-12_-4delGCCGCCGCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000503 in 1,590,700 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_006088.6 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151852Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000417 AC: 6AN: 1438848Hom.: 0 AF XY: 0.00000279 AC XY: 2AN XY: 715924
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151852Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74166
ClinVar
Submissions by phenotype
TUBB4B-related disorder Benign:1
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