chr13-48303753-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000321.3(RB1):c.-160T>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000941 in 1,169,526 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_000321.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.-160T>C | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 | ||
RB1 | NM_000321.3 | c.-160T>C | 5_prime_UTR_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163 | c.-160T>C | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 27 | 1 | NM_000321.3 | ENSP00000267163.4 | |||
RB1 | ENST00000267163 | c.-160T>C | 5_prime_UTR_variant | Exon 1 of 27 | 1 | NM_000321.3 | ENSP00000267163.4 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152052Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000885 AC: 9AN: 1017474Hom.: 0 Cov.: 13 AF XY: 0.00000597 AC XY: 3AN XY: 502298
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152052Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74264
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. 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