rs2748723
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 0.94 ( 34670 hom., 29075 hem., cov: 21)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.536
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
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 0.938 AC: 102224AN: 108977Hom.: 34668 Cov.: 21 AF XY: 0.930 AC XY: 29022AN XY: 31213
GnomAD3 genomes
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102224
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21
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29022
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31213
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.938 AC: 102275AN: 109025Hom.: 34670 Cov.: 21 AF XY: 0.930 AC XY: 29075AN XY: 31271
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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102275
AN:
109025
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21
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29075
AN XY:
31271
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at