11-66510657-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024649.5(BBS1):c.-3A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_024649.5 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152190Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250670Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135660
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461808Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727198
GnomAD4 genome AF: 0.000158 AC: 24AN: 152308Hom.: 0 Cov.: 31 AF XY: 0.000107 AC XY: 8AN XY: 74474
ClinVar
Submissions by phenotype
Bardet-Biedl syndrome 1 Uncertain:2
- -
- -
not specified Uncertain:1
- -
not provided Uncertain:1
Alters the Kozak consensus sequence in the 5'-untranslated region; Has not been previously published as pathogenic or benign to our knowledge -
BBS1-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