13-48303757-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBS2_Supporting
The NM_000321.3(RB1):c.-156C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000582 in 1,202,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000321.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RB1 | NM_000321.3 | c.-156C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 | ||
RB1 | NM_000321.3 | c.-156C>T | 5_prime_UTR_variant | Exon 1 of 27 | ENST00000267163.6 | NP_000312.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RB1 | ENST00000267163 | c.-156C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 27 | 1 | NM_000321.3 | ENSP00000267163.4 | |||
RB1 | ENST00000267163 | c.-156C>T | 5_prime_UTR_variant | Exon 1 of 27 | 1 | NM_000321.3 | ENSP00000267163.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000571 AC: 6AN: 1049896Hom.: 0 Cov.: 14 AF XY: 0.00000193 AC XY: 1AN XY: 517348
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at