rs648119
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.491 in 151,786 control chromosomes in the GnomAD database, including 18,687 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 0.49 ( 18687 hom., cov: 30)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.388
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.541 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.491 AC: 74517AN: 151668Hom.: 18676 Cov.: 30
GnomAD3 genomes
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74517
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30
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.491 AC: 74569AN: 151786Hom.: 18687 Cov.: 30 AF XY: 0.487 AC XY: 36143AN XY: 74156
GnomAD4 genome
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AC:
74569
AN:
151786
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Cov.:
30
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AC XY:
36143
AN XY:
74156
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Asia WGS
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1607
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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