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SNV:6-51772791-T-G (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 | 151806 |
| Allele Frequency | 0.000006587 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.3 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 67914 | 0 | 0.00001472 | ||
| 0 | 10562 | 0 | 0.000 | ||
| 0 | 15182 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5150 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41394 | 0 | 0.000 | ||
| 0 | 4826 | 0 | 0.000 | ||
| 0 | 3466 | 0 | 0.000 | ||
| 0 | 2084 | 0 | 0.000 | ||
| XX | 1 | 77708 | 0 | 0.00001287 | |
| XY | 0 | 74098 | 0 | 0.000 | |
| Total | 1 | 151806 | 0 | 0.000006587 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 2 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
splice acceptor
PKHD1
- ENST00000371117.8MANE Select transcript for PKHD1
- HGVSc
- c.8555-2A>C
- pLoF
- High-confidence
- ENST00000340994.4
- HGVSc
- c.8555-2A>C
- pLoF
- High-confidence
- ENST00000371117.8
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 34.0
- SpliceAI: 0.990 (acceptor_loss)
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 6-51772000-51773000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 164.1 | 164 | Z = 0.01 o/e = 1 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 6-51752791-51792791
ClinVar
- ClinVar Variation ID
- 429814
- Conditions
- not provided, Polycystic kidney disease 4, PKHD1-related disorder, Autosomal recessive polycystic kidney disease
- Germline classification
- Pathogenic/Likely pathogenic
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- June 15, 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: 3.760e+2 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data