chr13-48303993-C-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000321.3(RB1):c.81C>A(p.Pro27=) variant causes a 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P27P) has been classified as Likely benign.
Frequency
Consequence
NM_000321.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.81C>A | p.Pro27= | synonymous_variant | 1/27 | ENST00000267163.6 | |
RB1 | NM_001407165.1 | c.81C>A | p.Pro27= | synonymous_variant | 1/27 | ||
RB1 | NM_001407166.1 | c.81C>A | p.Pro27= | synonymous_variant | 1/17 | ||
RB1 | NM_001407167.1 | c.81C>A | p.Pro27= | synonymous_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.81C>A | p.Pro27= | synonymous_variant | 1/27 | 1 | NM_000321.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1346412Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 664018
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Retinoblastoma Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 04, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.