rs2307803
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The variant allele was found at a frequency of 0.252 in 152,016 control chromosomes in the GnomAD database, including 5,345 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.25 ( 5345 hom., cov: 24)
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.31
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.353 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| use as main transcript | n.109262183_109262184delTG | intergenic_region |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.252 AC: 38267AN: 151898Hom.: 5326 Cov.: 24
GnomAD3 genomes
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24
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.252 AC: 38333AN: 152016Hom.: 5345 Cov.: 24 AF XY: 0.252 AC XY: 18714AN XY: 74322
GnomAD4 genome
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38333
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152016
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24
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18714
AN XY:
74322
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Asia WGS
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650
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3476
ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at