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SNV:17-58573299-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 | 172 |
| Allele Number | 152140 |
| Allele Frequency | 0.001131 |
| Grpmax Filtering AF (95% confidence) | 0.001630 European (non-Finnish) |
| 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
| 10 | 4826 | 0 | 0.002072 | ||
| 129 | 68024 | 0 | 0.001896 | ||
| 6 | 3468 | 0 | 0.001730 | ||
| 2 | 2088 | 0 | 0.0009579 | ||
| 5 | 10594 | 0 | 0.0004720 | ||
| 16 | 41432 | 0 | 0.0003862 | ||
| 4 | 15282 | 0 | 0.0002617 | ||
| 0 | 910 | 0 | 0.000 | ||
| 0 | 5200 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| XX | 87 | 77814 | 0 | 0.001118 | |
| XY | 85 | 74326 | 0 | 0.001144 | |
| Total | 172 | 152140 | 0 | 0.001131 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 4 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
synonymous
TEX14
- ENST00000349033.9Different version of MANE Select transcript for TEX14
- HGVSp
- p.Thr1131Thr
- Domains
- PTHR23060 (PANTHER)
- ENST00000240361.12Ensembl canonical transcript for TEX14
- HGVSp
- p.Thr1177Thr
- Domains
- PTHR23060 (PANTHER)
- ENST00000389934.7
- HGVSp
- p.Thr1171Thr
- Domains
- PTHR23060 (PANTHER)
- ENST00000349033.9
3' UTR
TEX14
- ENST00000582740.1
- HGVSc
- c.*3231G>A
- ENST00000582740.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 7.78
- SpliceAI: 0.0300 (acceptor_loss)
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 17-58573000-58574000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 190.5 | 175 | Z = 1.12 o/e = 0.92 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 17-58553299-58593299
ClinVar
- ClinVar Variation ID
- 3024921
- Conditions
- not provided
- Germline classification
- Likely benign
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- February 1, 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: 2.017e+5 (genome samples)
Site quality approximation for all variants with 0.001 <= AF < 0.002.
Read Data
Always load read data