chr13-48379592-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_000321.3(RB1):c.1333-2A>T variant causes a splice acceptor, intron change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000321.3 splice_acceptor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.1333-2A>T | splice_acceptor_variant, intron_variant | ENST00000267163.6 | NP_000312.2 | |||
RB1 | NM_001407165.1 | c.1333-2A>T | splice_acceptor_variant, intron_variant | NP_001394094.1 | ||||
RB1 | NM_001407166.1 | c.1333-2A>T | splice_acceptor_variant, intron_variant | NP_001394095.1 | ||||
LOC112268118 | XR_002957522.2 | n.40+243T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.1333-2A>T | splice_acceptor_variant, intron_variant | 1 | NM_000321.3 | ENSP00000267163.4 | ||||
RB1 | ENST00000650461.1 | c.1333-2A>T | splice_acceptor_variant, intron_variant | ENSP00000497193.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.