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SNV:3-38846863-C-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 | 215 |
| Allele Number | 152058 |
| Allele Frequency | 0.001414 |
| Grpmax Filtering AF (95% confidence) | 0.001849 European (non-Finnish) |
| Number of homozygotes | 2 |
| Mean depth of coverage | 31.1 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 21 | 3468 | 0 | 0.006055 | ||
| 33 | 10600 | 0 | 0.003113 | ||
| 145 | 68012 | 2 | 0.002132 | ||
| 2 | 2092 | 0 | 0.0009560 | ||
| 10 | 15260 | 0 | 0.0006553 | ||
| 4 | 41398 | 0 | 0.00009662 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5186 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 4814 | 0 | 0.000 | ||
| XX | 113 | 77784 | 2 | 0.001453 | |
| XY | 102 | 74274 | 0 | 0.001373 | |
| Total | 215 | 152058 | 2 | 0.001414 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 8 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
SCN11A
- ENST00000302328.9MANE Select transcript for SCN11A
- HGVSp
- p.Gly1736Val
- Domains
- 1 (Gene3D)
- PTHR10037 (PANTHER)
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000668754.1Ensembl canonical transcript for SCN11A
- HGVSp
- p.Gly1736Val
- Domains
- 1 (Gene3D)
- PTHR10037 (PANTHER)
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000456224.7
- HGVSp
- p.Gly1698Val
- Domains
- 1 (Gene3D)
- PTHR10037 (PANTHER)
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000302328.9
3' UTR
SCN11A
- ENST00000675223.1
- HGVSc
- c.*951G>T
- ENST00000675672.1
- HGVSc
- c.*2378G>T
- ENST00000676045.1
- HGVSc
- c.*4924G>T
- ENST00000675223.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.264
- CADD: 19.6
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.308
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 3-38846000-38847000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 98.9 | 97 | Z = 0.19 o/e = 0.98 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 3-38826863-38866863
ClinVar
- ClinVar Variation ID
- 474745
- Conditions
- not provided, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases, SCN11A-related disorder
- Germline classification
- Benign/Likely benign
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- January 19, 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: 1.674e+5 (genome samples)
Site quality approximation for all variants with 0.001 <= AF < 0.002.
Read Data
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