rs7187995
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
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 0.62 ( 27175 hom., cov: 17)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.64
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.793 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.624 AC: 83425AN: 133710Hom.: 27163 Cov.: 17
GnomAD3 genomes
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83425
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133710
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17
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.624 AC: 83459AN: 133758Hom.: 27175 Cov.: 17 AF XY: 0.620 AC XY: 39407AN XY: 63534
GnomAD4 genome
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AC:
83459
AN:
133758
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Cov.:
17
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AC XY:
39407
AN XY:
63534
Gnomad4 AFR
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Asia WGS
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AC:
1801
AN:
3444
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