rs71486745
Positions:
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The variant allele was found at a frequency of 0.138 in 152,062 control chromosomes in the GnomAD database, including 1,906 homozygotes. Variant has been reported in Lovd as Benign (no stars).
Frequency
Genomes: 𝑓 0.14 ( 1906 hom., cov: 29)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.471
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
BP6
Variant 10-94936017-CTG-C is Benign according to our data. Variant chr10-94936017-CTG-C is described in Lovd as [Benign]. Variant chr10-94936017-CTG-C is described in Lovd as [Likely_benign].
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.304 is higher than 0.05.
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 0.138 AC: 20991AN: 151944Hom.: 1903 Cov.: 29
GnomAD3 genomes
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151944
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29
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.138 AC: 20998AN: 152062Hom.: 1906 Cov.: 29 AF XY: 0.143 AC XY: 10614AN XY: 74304
GnomAD4 genome
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20998
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152062
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29
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10614
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74304
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Asia WGS
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1016
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3478
ClinVar
Not reported inComputational scores
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Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at