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ExomesGenomesTotal
Filters PassPass
Allele Count18119
Allele Number24732231392278714
Allele Frequency0.000072780.000031860.00006817
Grpmax Filtering AF
(95% confidence)
0.0003652
South Asian
Number of homozygotes000
Mean depth of coverage70.231.2

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Genetic Ancestry Group Frequencies

172965400.0005733
12494000.00004010
13514600.00002845
012735000.000
0979400.000
01994000.000
02477400.000
0711600.000
XX612781400.00004694
XY1315090000.00008615
Total1927871400.00006817

* Allele frequencies for some sub-continental populations were not computed for genome samples.

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

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 carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll 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

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality020.0K40.0K60.0K80.0K100K120K140K160K180KExome variants05.00M10.0M15.0M20.0M25.0M30.0M35.0M40.0M45.0MGenome variants8.554e+23.120e+4

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

This is the site quality distribution for all exome variants with 0.00005 <= AF < 0.0001 and all singleton genome variants.

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

Read Data


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