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ExomesGenomesTotal
Filters PassPass
Allele Count22802852565
Allele Number24923631406280642
Allele Frequency0.0091480.0090750.009140
Grpmax Filtering AF
(95% confidence)
0.01353
European (non-Finnish)
0.01333
European (non-Finnish)
Number of homozygotes25227
Mean depth of coverage71.032.4

External Resources

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Genetic Ancestry Group Frequencies

1822128308170.01420
1461032820.01414
69715400.009645
1792467040.007256
2203539020.006216
723061020.002352
572433000.002343
01985200.000
XX114412780680.008951
XY1421152836190.009298
Total2565280642270.009140

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

Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 3 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. missense

    1. ITGA2B

      1. ENST00000262407.5
        Ensembl canonical transcript for ITGA2B
        HGVSp
        p.Leu147Val
        Domains
        • 3nigC00 (Gene3D)
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000353281.4
        HGVSp
        p.Leu147Val
        Domains
        • 3nigC00 (Gene3D)
        Polyphen
        benign
  2. non coding transcript exon

    1. ITGA2B

      1. ENST00000592944.1
        HGVSc
        n.124C>G

ClinVar

ClinVar Variation ID
242484
Germline classification
Benign
Review status
reviewed by expert panel (3 stars)
Last evaluated
February 2, 2023

or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

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

Site Quality Metrics

  • Exome
  • Genome

Value: 3.889e+6 (exome samples), 1.419e+5 (genome samples)

This is the site quality distribution for all exome variants with 0.005 <= AF < 0.01 and all genome variants with 0.005 <= AF < 0.01.

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

Read Data


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