rs201020747
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000321.3(RB1):c.1499-9C>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000067 in 149,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000321.3 splice_polypyrimidine_tract, intron
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.1499-9C>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000267163.6 | |||
RB1 | NM_001407165.1 | c.1499-9C>A | splice_polypyrimidine_tract_variant, intron_variant | ||||
RB1 | NM_001407166.1 | c.1499-9C>A | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.1499-9C>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000321.3 | P1 | |||
RB1 | ENST00000650461.1 | c.1499-9C>A | splice_polypyrimidine_tract_variant, intron_variant | ||||||
RB1 | ENST00000643064.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000670 AC: 1AN: 149192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000478 AC: 1AN: 209028Hom.: 0 AF XY: 0.00000882 AC XY: 1AN XY: 113328
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1422058Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 706002
GnomAD4 genome ? AF: 0.00000670 AC: 1AN: 149308Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 72760
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at