rs4269695
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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 0.92 ( 33165 hom., 28827 hem., cov: 21)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.295
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
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 0.922 AC: 100482AN: 108987Hom.: 33169 Cov.: 21 AF XY: 0.922 AC XY: 28769AN XY: 31213
GnomAD3 genomes
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100482
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21
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28769
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.922 AC: 100531AN: 109041Hom.: 33165 Cov.: 21 AF XY: 0.922 AC XY: 28827AN XY: 31277
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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100531
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109041
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21
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28827
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31277
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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