13-48303760-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000321.3(RB1):c.-153G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000165 in 1,209,354 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.-153G>C | 5_prime_UTR_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 | ||
RB1 | NM_001407165.1 | c.-153G>C | 5_prime_UTR_variant | Exon 1 of 27 | NP_001394094.1 | |||
RB1 | NM_001407166.1 | c.-153G>C | 5_prime_UTR_variant | Exon 1 of 17 | NP_001394095.1 | |||
RB1 | NM_001407167.1 | c.-153G>C | 5_prime_UTR_variant | Exon 1 of 3 | NP_001394096.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome AF: 9.46e-7 AC: 1AN: 1057192Hom.: 0 Cov.: 14 AF XY: 0.00 AC XY: 0AN XY: 521282
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
RB1-related disorder Uncertain:1
The RB1 c.-153G>C variant is located in the 5' untranslated region. To our knowledge, this variant has not been reported in the literature. This variant is reported in 1 of ~31,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/13-48877896-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at