rs5022079
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.74 in 152,204 control chromosomes in the GnomAD database, including 43,210 homozygotes. 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: 𝑓 0.74 ( 43210 hom., cov: 34)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.76
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.02).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.841 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.740 AC: 112596AN: 152086Hom.: 43217 Cov.: 34
GnomAD3 genomes
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112596
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152086
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34
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.740 AC: 112612AN: 152204Hom.: 43210 Cov.: 34 AF XY: 0.742 AC XY: 55200AN XY: 74388
GnomAD4 genome
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AC:
112612
AN:
152204
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Cov.:
34
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AC XY:
55200
AN XY:
74388
Gnomad4 AFR
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Asia WGS
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2716
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at