rs161115
Positions:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The variant allele was found at a frequency of 0.388 in 151,606 control chromosomes in the GnomAD database, including 11,811 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.39 ( 11811 hom., cov: 32)
Consequence
Unknown
Scores
1
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.90
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.47 is higher than 0.05.
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: 0.388 AC: 58852AN: 151486Hom.: 11801 Cov.: 32
GnomAD3 genomes
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58852
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.388 AC: 58886AN: 151606Hom.: 11811 Cov.: 32 AF XY: 0.387 AC XY: 28645AN XY: 74088
GnomAD4 genome
?
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AC:
58886
AN:
151606
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Cov.:
32
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AC XY:
28645
AN XY:
74088
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Uncertain
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at