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ExomesGenomesTotal
Filters PassPass
Allele Count18119
Allele Number247322 *31392 *278714 *
Allele Frequency0.000072780.000031860.00006817
Grpmax Filtering AF
(95% confidence)
0.0003652
South Asian
Number of homozygotes000

Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.

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Genetic Ancestry Group Frequencies

172965400.0005733
12494000.00004010
13514600.00002845
0979400.000
01994000.000
02477400.000
012735000.000
000-
000-
000-
XX612781400.00004694
XY1315090000.00008615
Total1927159800.00006996
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 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 quality024681012141618Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality020.0K40.0K60.0K80.0K100K120K140K160K180K200K220K240K260KExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants8.554e+23.120e+4

Value: 3.120e+4 (exome samples), 8.554e+2 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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