rs4829605
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 0.86 ( 30212 hom., 24310 hem., cov: 19)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.164
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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 | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.865 AC: 91061AN: 105287Hom.: 30216 Cov.: 19 AF XY: 0.867 AC XY: 24265AN XY: 27987
GnomAD3 genomes
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91061
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105287
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19
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24265
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27987
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.865 AC: 91096AN: 105334Hom.: 30212 Cov.: 19 AF XY: 0.867 AC XY: 24310AN XY: 28044
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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91096
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105334
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19
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24310
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28044
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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