rs10485131
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 0.0224 in 152,228 control chromosomes in the GnomAD database, including 62 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 0.022 ( 62 hom., cov: 33)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0620
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-1.0).
BS1
?
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.0224 (3411/152228) while in subpopulation SAS AF= 0.0413 (199/4818). AF 95% confidence interval is 0.0366. There are 62 homozygotes in gnomad4. There are 1669 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 62 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.0224 AC: 3412AN: 152110Hom.: 62 Cov.: 33
GnomAD3 genomes
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3412
AN:
152110
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0224 AC: 3411AN: 152228Hom.: 62 Cov.: 33 AF XY: 0.0224 AC XY: 1669AN XY: 74428
GnomAD4 genome
?
AF:
AC:
3411
AN:
152228
Hom.:
Cov.:
33
AF XY:
AC XY:
1669
AN XY:
74428
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Asia WGS
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AC:
47
AN:
3478
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