rs4827700
Positions:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
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 0.64 ( 16968 hom., 20119 hem., cov: 22)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.26
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.29).
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 0.642 AC: 70469AN: 109835Hom.: 16978 Cov.: 22 AF XY: 0.626 AC XY: 20078AN XY: 32071
GnomAD3 genomes
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70469
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109835
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22
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20078
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32071
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.641 AC: 70486AN: 109888Hom.: 16968 Cov.: 22 AF XY: 0.626 AC XY: 20119AN XY: 32136
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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70486
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109888
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22
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20119
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32136
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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