rs7157609
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 0.271 in 145,408 control chromosomes in the GnomAD database, including 5,930 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 0.27 ( 5930 hom., cov: 23)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.43
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.77).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.365 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 0.272 AC: 39454AN: 145298Hom.: 5930 Cov.: 23
GnomAD3 genomes
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39454
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145298
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23
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.271 AC: 39456AN: 145408Hom.: 5930 Cov.: 23 AF XY: 0.274 AC XY: 19368AN XY: 70634
GnomAD4 genome
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39456
AN:
145408
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Cov.:
23
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AC XY:
19368
AN XY:
70634
Gnomad4 AFR
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Asia WGS
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1244
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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