20-37035379-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002895.5(RBL1):c.2033G>A(p.Gly678Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,614,082 control chromosomes in the GnomAD database, including 1 homozygotes. 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 -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBL1 | ENST00000373664.8 | c.2033G>A | p.Gly678Glu | missense_variant | Exon 15 of 22 | 1 | NM_002895.5 | ENSP00000362768.3 | ||
RBL1 | ENST00000344359.7 | c.2033G>A | p.Gly678Glu | missense_variant | Exon 15 of 21 | 1 | ENSP00000343646.3 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251414Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135882
GnomAD4 exome AF: 0.000107 AC: 156AN: 1461846Hom.: 1 Cov.: 31 AF XY: 0.0000963 AC XY: 70AN XY: 727226
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74420
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2033G>A (p.G678E) alteration is located in exon 15 (coding exon 15) of the RBL1 gene. This alteration results from a G to A substitution at nucleotide position 2033, causing the glycine (G) at amino acid position 678 to be replaced by a glutamic acid (E). 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