rs1202918
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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 0.52 ( 10794 hom., 16312 hem., cov: 22)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.131
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.97).
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 0.517 AC: 56993AN: 110304Hom.: 10789 Cov.: 22 AF XY: 0.500 AC XY: 16283AN XY: 32572
GnomAD3 genomes
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56993
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110304
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22
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16283
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32572
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.517 AC: 57022AN: 110353Hom.: 10794 Cov.: 22 AF XY: 0.500 AC XY: 16312AN XY: 32631
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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57022
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110353
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22
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16312
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32631
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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