rs1041668
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 0.65 ( 20514 hom., 21885 hem., cov: 23)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.175
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
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 0.655 AC: 72394AN: 110591Hom.: 20522 Cov.: 23 AF XY: 0.666 AC XY: 21873AN XY: 32829
GnomAD3 genomes
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72394
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110591
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23
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21873
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32829
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.654 AC: 72384AN: 110644Hom.: 20514 Cov.: 23 AF XY: 0.665 AC XY: 21885AN XY: 32892
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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72384
AN:
110644
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Cov.:
23
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21885
AN XY:
32892
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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