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SNV:15-88639588-G-C (GRCh38)
Dataset
- gnomAD v3.1.2
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 2 |
| Allele Number | 152194 |
| Allele Frequency | 0.00001314 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 32.1 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 316 | 0 | 0.003165 | ||
| 1 | 68032 | 0 | 0.00001470 | ||
| 0 | 10622 | 0 | 0.000 | ||
| 0 | 15284 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5186 | 0 | 0.000 | ||
| 0 | 41444 | 0 | 0.000 | ||
| 0 | 4838 | 0 | 0.000 | ||
| 0 | 3470 | 0 | 0.000 | ||
| 0 | 2090 | 0 | 0.000 | ||
| XX | 1 | 77852 | 0 | 0.00001284 | |
| XY | 1 | 74342 | 0 | 0.00001345 | |
| Total | 2 | 152194 | 0 | 0.00001314 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 6 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
ISG20
- ENST00000306072.10MANE Select transcript for ISG20
- HGVSp
- p.Arg74Ser
- Domains
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000379224.9
- HGVSp
- p.Arg74Ser
- Domains
- 3 (Gene3D)
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000559876.1
- HGVSp
- p.Arg74Ser
- Domains
- 3 (Gene3D)
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000306072.10
non coding transcript exon
ISG20
- ENST00000558942.5
- HGVSc
- n.360G>C
- ENST00000560573.1
- HGVSc
- n.382G>C
- ENST00000558942.5
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.100
- CADD: 22.1
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.279
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 15-88639000-88640000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 119.3 | 73 | Z = 4.24 o/e = 0.61 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 15-88619588-88659588
ClinVar
- ClinVar Variation ID
- 2218703
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- September 1, 2021
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 3.112e+3 (genome samples)
Site quality approximation for all doubleton variants.
Read Data
Always load read data