rs2067180
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 0.45 ( 16433 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.966
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.541 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.451 AC: 68283AN: 151378Hom.: 16424 Cov.: 0
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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: 0.451 AC: 68327AN: 151496Hom.: 16433 Cov.: 0 AF XY: 0.444 AC XY: 32830AN XY: 74012
GnomAD4 genome
?
AF:
AC:
68327
AN:
151496
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Cov.:
0
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AC XY:
32830
AN XY:
74012
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Asia WGS
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AC:
1010
AN:
3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at