20-37022804-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_002895.5(RBL1):c.2405G>A(p.Arg802His) variant causes a missense change. The variant allele was found at a frequency of 0.00000745 in 1,610,466 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002895.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBL1 | ENST00000373664.8 | c.2405G>A | p.Arg802His | missense_variant | Exon 17 of 22 | 1 | NM_002895.5 | ENSP00000362768.3 | ||
RBL1 | ENST00000344359.7 | c.2405G>A | p.Arg802His | missense_variant | Exon 17 of 21 | 1 | ENSP00000343646.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249106Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134780
GnomAD4 exome AF: 0.00000754 AC: 11AN: 1458298Hom.: 0 Cov.: 30 AF XY: 0.00000689 AC XY: 5AN XY: 725572
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2405G>A (p.R802H) alteration is located in exon 17 (coding exon 17) of the RBL1 gene. This alteration results from a G to A substitution at nucleotide position 2405, causing the arginine (R) at amino acid position 802 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at