X-137178554-C-T
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Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
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 0.87 ( 30216 hom., 29443 hem., cov: 24)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.94
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.15).
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 0.867 AC: 96381AN: 111170Hom.: 30218 Cov.: 24 AF XY: 0.878 AC XY: 29387AN XY: 33486
GnomAD3 genomes
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111170
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24
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29387
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.867 AC: 96430AN: 111226Hom.: 30216 Cov.: 24 AF XY: 0.878 AC XY: 29443AN XY: 33550
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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96430
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111226
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24
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29443
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33550
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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