13-48303757-CGGGCGG-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The NM_000321.3(RB1):c.-152_-147delCGGGGG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000571 in 1,049,898 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000321.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.-152_-147delCGGGGG | 5_prime_UTR_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 | ||
RB1 | NM_001407165.1 | c.-152_-147delCGGGGG | 5_prime_UTR_variant | Exon 1 of 27 | NP_001394094.1 | |||
RB1 | NM_001407166.1 | c.-152_-147delCGGGGG | 5_prime_UTR_variant | Exon 1 of 17 | NP_001394095.1 | |||
RB1 | NM_001407167.1 | c.-152_-147delCGGGGG | 5_prime_UTR_variant | Exon 1 of 3 | NP_001394096.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000571 AC: 6AN: 1049898Hom.: 0 AF XY: 0.00000387 AC XY: 2AN XY: 517348
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Retinoblastoma Uncertain:1
This variant occurs in a non-coding region of the RB1 gene. It does not change the encoded amino acid sequence of the RB1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.