chr13-48379594-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000321.3(RB1):c.1333C>A(p.Arg445=) variant causes a splice region, synonymous 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. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R445R) has been classified as Likely benign.
Frequency
Consequence
NM_000321.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.1333C>A | p.Arg445= | splice_region_variant, synonymous_variant | 14/27 | ENST00000267163.6 | |
LOC112268118 | XR_002957522.2 | n.40+241G>T | intron_variant, non_coding_transcript_variant | ||||
RB1 | NM_001407165.1 | c.1333C>A | p.Arg445= | splice_region_variant, synonymous_variant | 14/27 | ||
RB1 | NM_001407166.1 | c.1333C>A | p.Arg445= | splice_region_variant, synonymous_variant | 14/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.1333C>A | p.Arg445= | splice_region_variant, synonymous_variant | 14/27 | 1 | NM_000321.3 | P1 | |
RB1 | ENST00000650461.1 | c.1333C>A | p.Arg445= | splice_region_variant, synonymous_variant | 14/27 |
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.