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SNV:2-216414940-C-T (GRCh38)
Dataset
- gnomAD v4.1.0
- 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
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | Pass | Pass | |
| Allele Count | 1 | 1 | 2 |
| Allele Number | 1461886 | 152186 | 1614072 |
| Allele Frequency | 6.840e-7 | 0.000006571 | 0.000001239 |
| Grpmax Filtering AF (95% confidence) | — | — | — |
| Number of homozygotes | 0 | 0 | 0 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 44902 | 0 | 0.00002227 | ||
| 1 | 1180048 | 0 | 8.474e-7 | ||
| 0 | 74928 | 0 | 0.000 | ||
| 0 | 59988 | 0 | 0.000 | ||
| 0 | 29606 | 0 | 0.000 | ||
| 0 | 64044 | 0 | 0.000 | ||
| 0 | 6084 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 91080 | 0 | 0.000 | ||
| 0 | 62480 | 0 | 0.000 | ||
| XX | 1 | 812482 | 0 | 0.000001231 | |
| XY | 1 | 801590 | 0 | 0.000001248 | |
| Total | 2 | 1614072 | 0 | 0.000001239 | |
Include:
Related Variants
Nearby Variants
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
SMARCAL1
- ENST00000357276.9MANE Select transcript for SMARCAL1
- HGVSp
- p.Ser79Leu
- Domains
- mobidb (MobiDB_lite)
- PTHR45766 (PANTHER)
- ENST00000358207.9
- HGVSp
- p.Ser79Leu
- Domains
- mobidb (MobiDB_lite)
- PTHR45766 (PANTHER)
- ENST00000430374.5
- HGVSp
- p.Ser79Leu
- Domains
- mobidb (MobiDB_lite)
- ENST00000357276.9
In Silico Predictors
- CADD: 21.0
- REVEL: 0.0520
- SpliceAI: 0.0600
- Pangolin: 0.0400
- phyloP: 4.68
- PolyPhen (max): 0.879
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 2-216414000-216415000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 84 | 82 | Z = 0.22 o/e = 0.98 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 2-216394940-216434940
ClinVar
- ClinVar Variation ID
- 935216
- Conditions
- Schimke immuno-osseous dysplasia
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- August 20, 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: 1.048e+3 (exome samples), 1.044e+3 (genome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data