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SNV:19-10393282-C-T (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 | 152124 |
| Allele Frequency | 0.000006574 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 31.0 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 67986 | 0 | 0.00001471 | ||
| 0 | 10620 | 0 | 0.000 | ||
| 0 | 15282 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5186 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41430 | 0 | 0.000 | ||
| 0 | 4832 | 0 | 0.000 | ||
| 0 | 3468 | 0 | 0.000 | ||
| 0 | 2092 | 0 | 0.000 | ||
| XX | 1 | 77826 | 0 | 0.00001285 | |
| XY | 0 | 74298 | 0 | 0.000 | |
| Total | 1 | 152124 | 0 | 0.000006574 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 7 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
CDC37
- ENST00000222005.7MANE Select transcript for CDC37
- HGVSp
- p.Glu296Lys
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000589331.1
- HGVSp
- p.Glu45Lys
- Domains
- Polyphen
- probably_damaging
- SIFT
- deleterious
- ENST00000589625.5
- HGVSp
- p.Glu109Lys
- Domains
- Polyphen
- probably_damaging
- SIFT
- deleterious
- ENST00000222005.7
non coding transcript exon
CDC37
- ENST00000590632.1
- HGVSc
- n.505G>A
- ENST00000591248.5
- HGVSc
- n.1028G>A
- ENST00000590632.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.260
- CADD: 23.9
- SpliceAI: 0.360 (donor_gain)
- PrimateAI: 0.762
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 19-10393000-10394000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 344.3 | 253 | Z = 4.92 o/e = 0.73 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 19-10373282-10413282
ClinVar
- ClinVar Variation ID
- 3488352
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- August 14, 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: 3.400e+2 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data