rs11558797
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006666.3(RUVBL2):c.615G>C(p.Leu205Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000695 in 1,438,920 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
Genomes: not found (cov: 33)
Exomes 𝑓: 6.9e-7 ( 0 hom. )
Consequence
RUVBL2
NM_006666.3 synonymous
NM_006666.3 synonymous
Scores
4
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 4.51
Publications
0 publications found
Genes affected
RUVBL2 (HGNC:10475): (RuvB like AAA ATPase 2) This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
MIR6798 (HGNC:50013): (microRNA 6798) microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
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new If you want to explore the variant's impact on the transcript NM_006666.3, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.35).
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_006666.3. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RUVBL2 | MANE Select | c.615G>C | p.Leu205Leu | synonymous | Exon 8 of 15 | NP_006657.1 | Q9Y230-1 | ||
| RUVBL2 | c.513G>C | p.Leu171Leu | synonymous | Exon 8 of 15 | NP_001308119.1 | B3KNL2 | |||
| RUVBL2 | c.480G>C | p.Leu160Leu | synonymous | Exon 8 of 15 | NP_001308120.1 | Q9Y230-2 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RUVBL2 | TSL:1 MANE Select | c.615G>C | p.Leu205Leu | synonymous | Exon 8 of 15 | ENSP00000473172.1 | Q9Y230-1 | ||
| RUVBL2 | TSL:1 | n.604G>C | non_coding_transcript_exon | Exon 8 of 15 | ENSP00000221413.6 | X6R2L4 | |||
| RUVBL2 | c.636G>C | p.Leu212Leu | synonymous | Exon 8 of 15 | ENSP00000558228.1 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
33
GnomAD2 exomes AF: 0.00000429 AC: 1AN: 232880 AF XY: 0.00000794 show subpopulations
GnomAD2 exomes
AF:
AC:
1
AN:
232880
AF XY:
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1438920Hom.: 0 Cov.: 37 AF XY: 0.00000140 AC XY: 1AN XY: 713354 show subpopulations
GnomAD4 exome
AF:
AC:
1
AN:
1438920
Hom.:
Cov.:
37
AF XY:
AC XY:
1
AN XY:
713354
show subpopulations
African (AFR)
AF:
AC:
1
AN:
32954
American (AMR)
AF:
AC:
0
AN:
42828
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
24396
East Asian (EAS)
AF:
AC:
0
AN:
39468
South Asian (SAS)
AF:
AC:
0
AN:
83166
European-Finnish (FIN)
AF:
AC:
0
AN:
52298
Middle Eastern (MID)
AF:
AC:
0
AN:
5632
European-Non Finnish (NFE)
AF:
AC:
0
AN:
1098902
Other (OTH)
AF:
AC:
0
AN:
59276
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
GnomAD4 genome
Cov.:
33
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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