20-36998838-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002895.5(RBL1):c.3128C>A(p.Ala1043Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,613,152 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 Uncertain significance (★).
Frequency
Consequence
NM_002895.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251328Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135846
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461006Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726892
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3128C>A (p.A1043D) alteration is located in exon 22 (coding exon 22) of the RBL1 gene. This alteration results from a C to A substitution at nucleotide position 3128, causing the alanine (A) at amino acid position 1043 to be replaced by an aspartic acid (D). 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