rs2032468
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 0.80 ( 24859 hom., 25906 hem., cov: 22)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.87
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.06).
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 0.796 AC: 87863AN: 110420Hom.: 24870 Cov.: 22 AF XY: 0.793 AC XY: 25874AN XY: 32636
GnomAD3 genomes
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87863
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110420
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22
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25874
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32636
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.795 AC: 87877AN: 110468Hom.: 24859 Cov.: 22 AF XY: 0.792 AC XY: 25906AN XY: 32694
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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87877
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110468
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22
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25906
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32694
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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