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Genomes
Filters Pass
Allele Count10
Allele Number152122
Allele Frequency0.00006574
Grpmax Filtering AF
(95% confidence)
0.0001128
African/African American
Number of homozygotes0
Mean depth of coverage31.2

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Genetic Ancestry Group Frequencies

94140800.0002173
11526800.00006550
06803400.000
01060400.000
091200.000
0519800.000
031600.000
0482400.000
0346800.000
0209000.000
XX47780200.00005141
XY67432000.00008073
Total1015212200.00006574
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. missense

    1. RORC

      1. ENST00000318247.7
        MANE Select transcript for RORC
        HGVSp
        p.His429Tyr
        Domains
        Polyphen
        benign
        SIFT
        deleterious
      2. ENST00000356728.11
        HGVSp
        p.His408Tyr
        Domains
        Polyphen
        benign
        SIFT
        deleterious
  2. non coding transcript exon

    1. RORC

      1. ENST00000480719.1
        HGVSc
        n.1843C>T
  3. splice region

    1. RORC

      1. ENST00000638901.1
        HGVSc
        c.*1322C>T
      2. ENST00000651814.1
        HGVSc
        c.*242C>T
      3. ENST00000651893.1
        HGVSc
        c.*63C>T

In Silico Predictors

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

  • REVEL: 0.272
  • CADD: 16.6
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.304

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: 1-151792947-151832947

ClinVar

ClinVar Variation ID
656474
Germline classification
Uncertain significance
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
August 24, 2022

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 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 quality012345678910Variant 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 variants1.061e+4

Value: 1.061e+4 (genome samples)

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

Read Data


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