rs10579103
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.35 ( 9184 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.228
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.349 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.349 AC: 52521AN: 150486Hom.: 9180 Cov.: 0
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52521
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150486
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0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.349 AC: 52552AN: 150588Hom.: 9184 Cov.: 0 AF XY: 0.347 AC XY: 25489AN XY: 73518
GnomAD4 genome
?
AF:
AC:
52552
AN:
150588
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Cov.:
0
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AC XY:
25489
AN XY:
73518
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ClinVar
Not reported inComputational scores
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Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at