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ExomesGenomesTotal
Filters PassPass
Allele Count12315
Allele Number14618321521741614006
Allele Frequency0.0000082090.000019710.000009294
Grpmax Filtering AF
(95% confidence)
0.00002985
Admixed American
0.00003233
Admixed American
Number of homozygotes000

External Resources

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Genetic Ancestry Group Frequencies

56000600.00008333
17490800.00001335
9118004800.000007627
02960800.000
04488800.000
06399200.000
0607800.000
091200.000
09108800.000
06247800.000
XX581242800.000006154
XY1080157800.00001248
Total15161400600.000009294
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

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.

  1. synonymous

    1. DES

      1. ENST00000373960.4
        MANE Select transcript for DES
        HGVSp
        p.Ile236Ile
        Domains
  2. non coding transcript exon

    1. DES

      1. ENST00000477226.6
        HGVSc
        n.182C>T
      2. ENST00000492726.1
        HGVSc
        n.103C>T
      3. ENST00000683013.1
        HGVSc
        n.96C>T

In Silico Predictors

  • CADD: 3.03
  • SpliceAI: 0.00
  • Pangolin: -0.0100
  • phyloP: -3.67
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 2-219420000-219421000

Read more about this constraint.

ExpectedObservedConstraint
272.9173Z = 6.04
o/e = 0.63
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 2-219400319-219440319

ClinVar

ClinVar Variation ID
289081
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
November 28, 2023

or find more information on the ClinVar website. Data displayed here is from ClinVar's November 3, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant 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 quality02468101214Variant 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 variants05.00M10.0M15.0M20.0M25.0M30.0MGenome variants1.526e+32.440e+4

Value: 2.440e+4 (exome samples), 1.526e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


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