rs1555282811
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000321.3(RB1):c.380+3A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000321.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.380+3A>G | splice_region_variant, intron_variant | ENST00000267163.6 | NP_000312.2 | |||
RB1 | NM_001407165.1 | c.380+3A>G | splice_region_variant, intron_variant | NP_001394094.1 | ||||
RB1 | NM_001407166.1 | c.380+3A>G | splice_region_variant, intron_variant | NP_001394095.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.380+3A>G | splice_region_variant, intron_variant | 1 | NM_000321.3 | ENSP00000267163.4 | ||||
RB1 | ENST00000467505.5 | n.138-17300A>G | intron_variant | 1 | ENSP00000434702.1 | |||||
RB1 | ENST00000650461.1 | c.380+3A>G | splice_region_variant, intron_variant | ENSP00000497193.1 | ||||||
RB1 | ENST00000525036.1 | n.542+3A>G | splice_region_variant, intron_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1421204Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 709310
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Retinoblastoma Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Mar 24, 2024 | This variant causes an A to G nucleotide substitution at the +3 position of intron 3/26 of the RB1 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.