Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
Genomes
Filters Pass
Allele Count285
Allele Number31406 *
Allele Frequency0.009075
Grpmax Filtering AF
(95% confidence)
0.01333
European (non-Finnish)
Number of homozygotes2
Mean depth of coverage32.4

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

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

1822128308170.01420
1461032820.01414
69715400.009645
1792467040.007256
2203539020.006216
723061020.002352
572433000.002343
01985200.000
000-
000-
XX114412780680.008951
XY1421152836190.009298
Total2565280642270.009140
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

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 17-42463000-42464000

Read more about this constraint.

ExpectedObservedConstraint
125.2119Z = 0.56
o/e = 0.95
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 17-42443054-42483054

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
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age020406080100120140160180200Variant 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 quality02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40KVariant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80MGenome variants1.419e+5

Value: No value for this metric (exome samples), 1.419e+5 (genome samples)

Site quality approximation for all variants with 0.005 <= AF < 0.01.

Read Data


Always load read data