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SNV:1-160291926-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 | 10 |
| Allele Number | 152134 |
| Allele Frequency | 0.00006573 |
| Grpmax Filtering AF (95% confidence) | 0.00004764 European (non-Finnish) |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.7 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 4826 | 0 | 0.0002072 | ||
| 2 | 15270 | 0 | 0.0001310 | ||
| 7 | 68046 | 0 | 0.0001029 | ||
| 0 | 10604 | 0 | 0.000 | ||
| 0 | 908 | 0 | 0.000 | ||
| 0 | 5198 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41406 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 2088 | 0 | 0.000 | ||
| XX | 2 | 77838 | 0 | 0.00002569 | |
| XY | 8 | 74296 | 0 | 0.0001077 | |
| Total | 10 | 152134 | 0 | 0.00006573 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 13 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
COPA
- ENST00000241704.8MANE Select transcript for COPA
- HGVSp
- p.Gln1051Glu
- Domains
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000368069.7Ensembl canonical transcript for COPA
- HGVSp
- p.Gln1060Glu
- Domains
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000647683.1
- HGVSp
- p.Gln1031Glu
- Domains
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000241704.8
non coding transcript exon
COPA
- ENST00000647693.1
- HGVSc
- n.4072C>G
- ENST00000647693.1
3' UTR
COPA
- ENST00000647799.1
- HGVSc
- c.*2505C>G
- ENST00000648501.1
- HGVSc
- c.*2259C>G
- ENST00000648805.1
- HGVSc
- c.*1682C>G
- ENST00000647799.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.211
- CADD: 22.7
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.710
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 1-160291000-160292000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 189 | 134 | Z = 4 o/e = 0.71 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 1-160271926-160311926
ClinVar
- ClinVar Variation ID
- 970584
- Germline classification
- Conflicting classifications of pathogenicity
- Review status
- criteria provided, conflicting classifications (1 star)
- Last evaluated
- December 27, 2023
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: 1.785e+4 (genome samples)
Site quality approximation for all variants with 0.00005 <= AF < 0.0001.
Read Data
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