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Genomes
Filters Pass
Allele Count1
Allele Number31392 *
Allele Frequency0.00003186
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage31.2

Warning This variant is covered in fewer than 50% of individuals in gnomAD v3.1.2 genomes. This may indicate a low-quality site.

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Genetic Ancestry Group Frequencies

172965400.0005733
12494000.00004010
13514600.00002845
012735000.000
02477400.000
01994000.000
0979400.000
0711600.000
000-
000-
XX612781400.00004694
XY1315090000.00008615
Total1927871400.00006817
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 10 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. DTNBP1

      1. ENST00000344537.5
        Ensembl canonical transcript for DTNBP1
        HGVSp
        p.Pro268Pro
        Domains
      2. ENST00000338950.5
        HGVSp
        p.Pro268Pro
        Domains
      3. ENST00000355917.3
        HGVSp
        p.Pro269Pro
        Domains
  2. 3' UTR

    1. DTNBP1

      1. ENST00000506844.1
        HGVSc
        c.*802C>T
      2. ENST00000510395.1
        HGVSc
        c.*714C>T
      3. ENST00000513680.1
        HGVSc
        c.*804C>T
  3. non coding transcript exon

    1. DTNBP1

      1. ENST00000514651.1
        HGVSc
        n.445C>T

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-15524000-15525000

Read more about this constraint.

ExpectedObservedConstraint
8584Z = 0.11
o/e = 0.99
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-15504764-15544764

ClinVar

ClinVar Variation ID
2193264
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
November 3, 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> 80Age012345Variant 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 quality024681012141618Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants8.554e+2

Value: No value for this metric (exome samples), 8.554e+2 (genome samples)

Site quality approximation for all singleton variants.

Read Data


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