rs11072158
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The variant allele was found at a frequency of 0.0164 in 152,048 control chromosomes in the GnomAD database, including 33 homozygotes. 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 0.016 ( 33 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.93
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0164 (2488/152048) while in subpopulation NFE AF= 0.0226 (1537/67998). AF 95% confidence interval is 0.0217. There are 33 homozygotes in gnomad4. There are 1207 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 33 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0164 AC: 2489AN: 151930Hom.: 33 Cov.: 31
GnomAD3 genomes
?
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2489
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151930
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31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0164 AC: 2488AN: 152048Hom.: 33 Cov.: 31 AF XY: 0.0162 AC XY: 1207AN XY: 74354
GnomAD4 genome
?
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AC:
2488
AN:
152048
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Cov.:
31
AF XY:
AC XY:
1207
AN XY:
74354
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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