rs1119529
Positions:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The variant allele was found at a frequency of 0.00106 in 111,627 control chromosomes in the GnomAD database, including 2 homozygotes. There are 33 hemizygotes in GnomAD. 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 0.0011 ( 2 hom., 33 hem., cov: 22)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.229
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BS2
High Homozygotes in GnomAd4 at 2 gene
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 0.00105 AC: 117AN: 111577Hom.: 2 Cov.: 22 AF XY: 0.000948 AC XY: 32AN XY: 33767
GnomAD3 genomes
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117
AN:
111577
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22
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32
AN XY:
33767
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.00106 AC: 118AN: 111627Hom.: 2 Cov.: 22 AF XY: 0.000976 AC XY: 33AN XY: 33827
GnomAD4 genome
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118
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111627
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22
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33
AN XY:
33827
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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