rs825541
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 0.121 in 111,332 control chromosomes in the GnomAD database, including 785 homozygotes. There are 3,973 hemizygotes in GnomAD. 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 0.12 ( 785 hom., 3973 hem., cov: 23)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.487 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.121 AC: 13443AN: 111280Hom.: 788 Cov.: 23 AF XY: 0.119 AC XY: 3970AN XY: 33484
GnomAD3 genomes
?
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AC:
13443
AN:
111280
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Cov.:
23
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AC XY:
3970
AN XY:
33484
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.121 AC: 13440AN: 111332Hom.: 785 Cov.: 23 AF XY: 0.118 AC XY: 3973AN XY: 33546
GnomAD4 genome
?
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AC:
13440
AN:
111332
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Cov.:
23
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AC XY:
3973
AN XY:
33546
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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