rs7081156
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 0.125 in 150,708 control chromosomes in the GnomAD database, including 2,086 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 0.13 ( 2086 hom., cov: 29)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0570
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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 (AFR) allele frequency at 95% confidence interval = 0.283 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 0.125 AC: 18865AN: 150596Hom.: 2081 Cov.: 29
GnomAD3 genomes
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18865
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150596
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Cov.:
29
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.125 AC: 18895AN: 150708Hom.: 2086 Cov.: 29 AF XY: 0.121 AC XY: 8934AN XY: 73616
GnomAD4 genome
AF:
AC:
18895
AN:
150708
Hom.:
Cov.:
29
AF XY:
AC XY:
8934
AN XY:
73616
Gnomad4 AFR
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Alfa
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Bravo
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Asia WGS
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AC:
234
AN:
3456
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