9-101540895-G-A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_019592.7(RNF20):c.548G>A(p.Arg183Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000539 in 1,613,810 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_019592.7 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| RNF20 | NM_019592.7 | c.548G>A | p.Arg183Gln | missense_variant | Exon 5 of 20 | ENST00000389120.8 | NP_062538.5 | |
| RNF20 | XM_011518862.2 | c.548G>A | p.Arg183Gln | missense_variant | Exon 5 of 20 | XP_011517164.1 | ||
| RNF20 | XM_047423594.1 | c.548G>A | p.Arg183Gln | missense_variant | Exon 6 of 21 | XP_047279550.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 151940Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000437 AC: 11AN: 251434 AF XY: 0.0000442 show subpopulations
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461870Hom.: 0 Cov.: 32 AF XY: 0.0000454 AC XY: 33AN XY: 727234 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000105 AC: 16AN: 151940Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74178 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.548G>A (p.R183Q) alteration is located in exon 5 (coding exon 4) of the RNF20 gene. This alteration results from a G to A substitution at nucleotide position 548, causing the arginine (R) at amino acid position 183 to be replaced by a glutamine (Q). 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