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Genomes
Filters Pass
Allele Count3
Allele Number152280
Allele Frequency0.00001970
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage33.7

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Genetic Ancestry Group Frequencies

1483600.0002068
11529200.00006539
16804400.00001470
01063200.000
091200.000
0520200.000
031600.000
04148200.000
0347200.000
0209200.000
XX27788400.00002568
XY17439600.00001344
Total315228000.00001970
Include:

Related Variants

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. intron

    1. DHX37

      1. ENST00000308736.7
        MANE Select transcript for DHX37
        HGVSc
        c.3291-20C>T
      2. ENST00000544745.2
        HGVSc
        c.2762-20C>T
      3. ENST00000542400.5
        HGVSc
        n.1905-20C>T
  2. non coding transcript exon

    1. DHX37

      1. ENST00000507267.2
        HGVSc
        n.415C>T

In Silico Predictors

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

  • CADD: 3.05
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
2018185
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
September 30, 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
< 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 quality0123Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants1.574e+3

Value: 1.574e+3 (genome samples)

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

Read Data


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