rs8033165
Positions:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The variant allele was found at a frequency of 0.313 in 150,274 control chromosomes in the GnomAD database, including 8,695 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 0.31 ( 8695 hom., cov: 28)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.23
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.35).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.436 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 0.313 AC: 46962AN: 150158Hom.: 8694 Cov.: 28
GnomAD3 genomes
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46962
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150158
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28
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.313 AC: 46966AN: 150274Hom.: 8695 Cov.: 28 AF XY: 0.306 AC XY: 22464AN XY: 73330
GnomAD4 genome
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AC:
46966
AN:
150274
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Cov.:
28
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AC XY:
22464
AN XY:
73330
Gnomad4 AFR
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Asia WGS
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AC:
351
AN:
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