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SNV:4-786598-G-A (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 | 98 | 9 | 107 |
| Allele Number | 1460064 | 152188 | 1612252 |
| Allele Frequency | 0.00006712 | 0.00005914 | 0.00006637 |
| Grpmax Filtering AF (95% confidence) | 0.001638 East Asian | 0.0005086 East Asian | 0.001572 East Asian |
| Number of homozygotes | 1 | 0 | 1 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 85 | 44788 | 0 | 0.001898 | ||
| 9 | 90860 | 1 | 0.00009905 | ||
| 5 | 62394 | 0 | 0.00008014 | ||
| 1 | 59934 | 0 | 0.00001669 | ||
| 7 | 1179346 | 0 | 0.000005935 | ||
| 0 | 74970 | 0 | 0.000 | ||
| 0 | 29526 | 0 | 0.000 | ||
| 0 | 63498 | 0 | 0.000 | ||
| 0 | 6026 | 0 | 0.000 | ||
| 0 | 910 | 0 | 0.000 | ||
| XX | 64 | 811538 | 0 | 0.00007886 | |
| XY | 43 | 800714 | 1 | 0.00005370 | |
| Total | 107 | 1612252 | 1 | 0.00006637 | |
Include:
Related Variants
Other Alternate Alleles
This variant is multiallelic. Other alternate alleles are:
Liftover
The following GRCh37 variant lifts over to this variant:
- 4-780386-G-A
View variant in gnomAD v2.1.1
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.
missense
CPLX1
- ENST00000304062.11MANE Select transcript for CPLX1
- HGVSp
- p.Pro103Leu
- Domains
- ENST00000504062.1
- HGVSp
- p.Pro88Leu
- Domains
- ENST00000505203.1
- HGVSp
- p.Pro82Leu
- Domains
- ENST00000304062.11
non coding transcript exon
CPLX1
- ENST00000506404.1
- HGVSc
- n.361C>T
- ENST00000506404.1
In Silico Predictors
- CADD: 23.4
- REVEL: 0.0370
- SpliceAI: 0.00
- Pangolin: 0.00
- phyloP: 8.25
- PolyPhen (max): 0.0190
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 736367
- Conditions
- not provided
- Germline classification
- Likely benign
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- December 31, 2019
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: 1.148e+5 (exome samples), 8.999e+3 (genome samples)
Site quality approximation for all variants with 0.00005 <= AF < 0.0001.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data