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Genomes
Filters Pass
Allele Count2
Allele Number152244
Allele Frequency0.00001314
Grpmax Filtering AF
(95% confidence)
0.00002260
Admixed American
Number of homozygotes0
Mean depth of coverage32.5

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Genetic Ancestry Group Frequencies

21529000.0001308
06803000.000
01062400.000
091200.000
0519800.000
031600.000
04147400.000
0483800.000
0347000.000
0209200.000
XX27785600.00002569
XY07438800.000
Total215224400.00001314
Include:

Related Variants

Variant Effect Predictor

This variant falls on 8 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. missense

    1. DGUOK

      1. ENST00000264093.9
        MANE Select transcript for DGUOK
        HGVSp
        p.Ser16Gly
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000348222.3
        HGVSp
        p.Ser16Gly
        Domains
        • PTHR10513 (PANTHER)
        Polyphen
        benign
        SIFT
        tolerated
      3. ENST00000629438.2
        HGVSp
        p.Ser16Gly
        Polyphen
        benign
        SIFT
        tolerated_low_confidence
  2. non coding transcript exon

    1. DGUOK

      1. ENST00000462551.1
        HGVSc
        n.64A>G
      2. ENST00000462685.1
        HGVSc
        n.60A>G
      3. ENST00000489796.5
        HGVSc
        n.63A>G

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • REVEL: 0.187
  • CADD: 1.84
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.380

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
1952313
Conditions
not provided
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
August 6, 2022

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 carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants1.511e+3

Value: 1.511e+3 (genome samples)

Site quality approximation for all doubleton variants.

Read Data


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