X-132006309-G-T
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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 0.76 ( 22824 hom., 24750 hem., cov: 22)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.257
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.96).
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 0.762 AC: 84085AN: 110397Hom.: 22817 Cov.: 22 AF XY: 0.756 AC XY: 24697AN XY: 32653
GnomAD3 genomes
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22
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24697
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.762 AC: 84143AN: 110448Hom.: 22824 Cov.: 22 AF XY: 0.757 AC XY: 24750AN XY: 32714
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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84143
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22
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24750
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32714
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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