chr13-48465008-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000321.3(RB1):c.2222G>C(p.Arg741Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. R741C) has been classified as Likely benign.
Frequency
Consequence
NM_000321.3 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.2222G>C | p.Arg741Pro | missense_variant | 22/27 | ENST00000267163.6 | |
RB1 | NM_001407165.1 | c.2222G>C | p.Arg741Pro | missense_variant | 22/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.2222G>C | p.Arg741Pro | missense_variant | 22/27 | 1 | NM_000321.3 | P1 | |
RB1 | ENST00000650461.1 | c.2222G>C | p.Arg741Pro | missense_variant | 22/27 | ||||
RB1 | ENST00000643064.1 | c.194+83565G>C | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 24
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.