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ExomesGenomesTotal
Filters PassNo variant
Allele Count44
Allele Number248012248012
Allele Frequency0.000016130.00001613
Grpmax Filtering AF
(95% confidence)
0.000007090
European (non-Finnish)
Number of homozygotes00
Mean depth of coverage48.230.7

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Genetic Ancestry Group Frequencies

11539000.00006498
311243600.00002668
03433400.000
01002600.000
01787600.000
02151800.000
03040400.000
0602800.000
XX111348800.000008812
XY313452400.00002230
Total424801200.00001613
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 9 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. splice region

    1. ITPR1

      1. ENST00000302640.8
        Ensembl canonical transcript for ITPR1
        HGVSc
        c.709-6T>C
      2. ENST00000354582.6
        HGVSc
        c.709-6T>C
      3. ENST00000357086.4
        HGVSc
        c.709-6T>C

ClinVar

ClinVar Variation ID
900471
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
September 29, 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 carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01234Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0KAll individuals

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

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800KExome variants3.269e+3

Value: 3.269e+3 (exome samples)

This is the site quality distribution for all exome variants with 0 <= AF < 0.00005.

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

Read Data


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