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SNV:1-43348965-G-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 | 1 |
| Allele Number | 152148 |
| Allele Frequency | 0.000006573 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.9 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 2094 | 0 | 0.0004776 | ||
| 0 | 67988 | 0 | 0.000 | ||
| 0 | 10620 | 0 | 0.000 | ||
| 0 | 15290 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5184 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41444 | 0 | 0.000 | ||
| 0 | 4828 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| XX | 1 | 77826 | 0 | 0.00001285 | |
| XY | 0 | 74322 | 0 | 0.000 | |
| Total | 1 | 152148 | 0 | 0.000006573 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 3 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
stop gained
MPL
- ENST00000372470.9MANE Select transcript for MPL
- HGVSp
- p.Trp477Ter
- Domains
- cd00063 (CDD)
- pLoF
- High-confidence
- ENST00000413998.7
- HGVSp
- p.Trp470Ter
- Domains
- cd00063 (CDD)
- pLoF
- High-confidence
- ENST00000372470.9
non coding transcript exon
MPL
- ENST00000638732.1
- HGVSc
- n.1431G>A
- ENST00000638732.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 42.0
- SpliceAI: 0.0100 (acceptor_gain)
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 1-43348000-43349000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 240.2 | 184 | Z = 3.63 o/e = 0.77 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 1-43328965-43368965
ClinVar
- ClinVar Variation ID
- 1453832
- Conditions
- Primary myelofibrosis, Thrombocythemia 2, Congenital amegakaryocytic thrombocytopenia 1, Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
- Germline classification
- Pathogenic/Likely pathogenic
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- November 28, 2023
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: 3.730e+2 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data