rs7884258
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 0.60 ( 14973 hom., 17430 hem., cov: 20)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -4.16
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.08).
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 0.597 AC: 63682AN: 106758Hom.: 14963 Cov.: 20 AF XY: 0.592 AC XY: 17377AN XY: 29366
GnomAD3 genomes
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20
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17377
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29366
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.597 AC: 63744AN: 106811Hom.: 14973 Cov.: 20 AF XY: 0.592 AC XY: 17430AN XY: 29429
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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63744
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106811
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20
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17430
AN XY:
29429
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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