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Genomes
Filters Pass
Allele Count3
Allele Number152274
Allele Frequency0.00001970
Grpmax Filtering AF
(95% confidence)
0.00001918
African/African American
Number of homozygotes0
Mean depth of coverage31.6

External Resources

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Genetic Ancestry Group Frequencies

34148000.00007232
06804800.000
01062600.000
01529000.000
091200.000
0520600.000
031600.000
0483400.000
0347000.000
0209200.000
XX17788200.00001284
XY27439200.00002688
Total315227400.00001970
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. RAG1

      1. ENST00000299440.6
        MANE Select transcript for RAG1
        HGVSp
        p.Arg412Arg
        Domains
      2. ENST00000534663.1
        HGVSp
        p.Arg412Arg

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 10.6
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 11-36574000-36575000

Read more about this constraint.

ExpectedObservedConstraint
218.7167Z = 3.5
o/e = 0.76
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 11-36554540-36594540

ClinVar

ClinVar Variation ID
1571677
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
July 14, 2021

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> 80Age012Variant 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 quality0123Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants2.315e+4

Value: 2.315e+4 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

Read Data


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