rs2202091
Positions:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
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 0.60 ( 14349 hom., 17793 hem., cov: 21)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.652
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.01).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.599 AC: 64367AN: 107420Hom.: 14338 Cov.: 21 AF XY: 0.593 AC XY: 17752AN XY: 29938
GnomAD3 genomes
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107420
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21
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17752
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29938
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.599 AC: 64413AN: 107463Hom.: 14349 Cov.: 21 AF XY: 0.593 AC XY: 17793AN XY: 29991
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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64413
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107463
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21
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17793
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29991
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at