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ExomesGenomesTotal
Filters No variantPass
Allele Count33
Allele Number152274152274
Allele Frequency0.000019700.00001970
Grpmax Filtering AF
(95% confidence)
0.00001918
African/African American
Number of homozygotes00
Mean depth of coverage31.6

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Genetic Ancestry Group Frequencies

34148000.00007232
01529000.000
06804800.000
0347000.000
0520600.000
01062600.000
0483400.000
0209200.000
XX17788200.00001284
XY27439200.00002688
Total315104600.00001986

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

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)

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 carriers02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40KAll 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

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

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01Genome variants2.315e+4

Value: 2.315e+4 (genome samples)

This is the site quality distribution for all genome 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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