rs780248969
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_000321.3(RB1):c.1463C>A(p.Ala488Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A488V) has been classified as Likely benign.
Frequency
Consequence
NM_000321.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.1463C>A | p.Ala488Glu | missense_variant | 16/27 | ENST00000267163.6 | |
RB1 | NM_001407165.1 | c.1463C>A | p.Ala488Glu | missense_variant | 16/27 | ||
RB1 | NM_001407166.1 | c.1463C>A | p.Ala488Glu | missense_variant | 16/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.1463C>A | p.Ala488Glu | missense_variant | 16/27 | 1 | NM_000321.3 | P1 | |
RB1 | ENST00000650461.1 | c.1463C>A | p.Ala488Glu | missense_variant | 16/27 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1454354Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 723464
GnomAD4 genome ? Cov.: 31
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.