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ExomesGenomesTotal
Filters PassNo variant
Allele Count202
Allele Number14607161522261612942
Allele Frequency0.0000013690.000001240
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

19105000.00001098
1117936208.479e-7
07498400.000
05992400.000
02956400.000
04485800.000
06379000.000
0605400.000
091000.000
06244600.000
XX081185800.000
XY280108400.000002497
Total2161294200.000001240
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 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. IL12RB1

      1. ENST00000593993.7
        MANE Select transcript for IL12RB1
        HGVSp
        p.Phe550Phe
        Domains
        • PTHR23036 (PANTHER)
        • TMhelix (Transmembrane_helices)
      2. ENST00000600835.6
        HGVSp
        p.Phe550Phe
        Domains
        • PTHR23036 (PANTHER)
        • TMhelix (Transmembrane_helices)

In Silico Predictors

  • CADD: 1.39
  • SpliceAI: 0.250
  • Pangolin: -0.220
  • phyloP: -1.99
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 19-18062000-18063000

Read more about this constraint.

ExpectedObservedConstraint
163.8131Z = 2.56
o/e = 0.8
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 19-18042246-18082246

ClinVar

ClinVar Variation ID
891552
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
December 7, 2021

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 carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant carriers050.0K100K150K200K250K300K350KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00M6.50MExome variants1.158e+3

Value: 1.158e+3 (exome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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