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ExomesGenomesTotal
Filters PassPass
Allele Count729
Allele Number14616961522081613904
Allele Frequency0.0000047890.000013140.000005577
Grpmax Filtering AF
(95% confidence)
0.000001320
European (non-Finnish)
0.000004880
European (non-Finnish)
0.000002470
European (non-Finnish)
Number of homozygotes000

External Resources

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Genetic Ancestry Group Frequencies

14489400.00002227
16248600.00001600
7117998600.000005932
07492000.000
06001000.000
02960400.000
06392000.000
0608400.000
091200.000
09108800.000
XX381239400.000003693
XY680151000.000007486
Total9161390400.000005577
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 13 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. DOCK8

      1. ENST00000432829.7
        MANE Select transcript for DOCK8
        HGVSc
        c.405-16A>G
      2. ENST00000382329.2
        HGVSc
        c.201-16A>G
      3. ENST00000453981.5
        HGVSc
        c.201-16A>G

In Silico Predictors

  • CADD: 22.9
  • SpliceAI: 0.970
  • Pangolin: 0.790
  • phyloP: 0.292
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

ClinVar

ClinVar Variation ID
1447644
Conditions
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
August 27, 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
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0123456789Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants8.500e+21.101e+4

Value: 1.101e+4 (exome samples), 8.500e+2 (genome samples)

Site quality approximation for all doubleton variants.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

Read Data


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