13-48459818-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_000321.3(RB1):c.2091C>T(p.Asp697=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000321.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.2091C>T | p.Asp697= | synonymous_variant | 20/27 | ENST00000267163.6 | |
RB1 | NM_001407165.1 | c.2091C>T | p.Asp697= | synonymous_variant | 20/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163.6 | c.2091C>T | p.Asp697= | synonymous_variant | 20/27 | 1 | NM_000321.3 | P1 | |
RB1 | ENST00000650461.1 | c.2091C>T | p.Asp697= | synonymous_variant | 20/27 | ||||
RB1 | ENST00000643064.1 | c.194+78375C>T | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461560Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727106
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
Retinoblastoma Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.