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SNV:2-37929388-G-A (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 | 1 |
| Allele Number | 152192 |
| Allele Frequency | 0.000006571 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 31.4 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 68026 | 0 | 0.00001470 | ||
| 0 | 10630 | 0 | 0.000 | ||
| 0 | 15276 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5192 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41452 | 0 | 0.000 | ||
| 0 | 4828 | 0 | 0.000 | ||
| 0 | 3468 | 0 | 0.000 | ||
| 0 | 2092 | 0 | 0.000 | ||
| XX | 1 | 77840 | 0 | 0.00001285 | |
| XY | 0 | 74352 | 0 | 0.000 | |
| Total | 1 | 152192 | 0 | 0.000006571 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 5 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
UBAP2
- ENST00000379238.7MANE Select transcript for UBAP2
- HGVSp
- p.Asn1113Tyr
- Domains
- mobidb (MobiDB_lite)
- PTHR16308 (PANTHER)
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000360802.5Ensembl canonical transcript for UBAP2
- HGVSp
- p.Asn1113Tyr
- Domains
- mobidb (MobiDB_lite)
- PTHR16308 (PANTHER)
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000379239.8
- HGVSp
- p.Asn352Tyr
- Domains
- mobidb (MobiDB_lite)
- PTHR16308 (PANTHER)
- Polyphen
- possibly_damaging
- SIFT
- deleterious
- ENST00000379238.7
non coding transcript exon
UBAP2
- ENST00000379235.5
- HGVSc
- n.2005A>T
- ENST00000379235.5
3' UTR
UBAP2
- ENST00000629575.2
- HGVSc
- c.*2465A>T
- ENST00000629575.2
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.252
- CADD: 26.7
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.417
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 9-33922000-33923000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 239.4 | 215 | Z = 1.58 o/e = 0.9 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 9-33902527-33942527
ClinVar
- ClinVar Variation ID
- 3330524
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- May 2, 2024
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: 3.734e+3 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data