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Genomes
Filters Pass
Allele Count11
Allele Number152138
Allele Frequency0.00007230
Grpmax Filtering AF
(95% confidence)
0.00009576
African/African American
Number of homozygotes0
Mean depth of coverage31.2

External Resources

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Genetic Ancestry Group Frequencies

31527800.0001964
84139400.0001933
06803400.000
01061600.000
091000.000
0520200.000
031600.000
0482600.000
0347000.000
0209200.000
XX67780800.00007711
XY57433000.00006727
Total1115213800.00007230
Include:

Related Variants

Variant Effect Predictor

This variant falls on 6 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. splice region

    1. RORC

      1. ENST00000318247.7
        MANE Select transcript for RORC
        HGVSp
        p.Ala428Ala
        Domains
      2. ENST00000356728.11
        HGVSp
        p.Ala407Ala
        Domains
      3. ENST00000638901.1
        HGVSc
        c.*1321C>A
  2. non coding transcript exon

    1. RORC

      1. ENST00000480719.1
        HGVSc
        n.1842C>A

In Silico Predictors

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

  • CADD: 13.1
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 1-151812000-151813000

Read more about this constraint.

ExpectedObservedConstraint
179.8165Z = 1.11
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-151792948-151832948

ClinVar

ClinVar Variation ID
652941
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
December 20, 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> 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 quality01234567891011Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.204e+4

Value: 1.204e+4 (genome samples)

Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

Read Data


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