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ExomesGenomesTotal
Filters No variantPass
Allele Count1010
Allele Number152122152122
Allele Frequency0.000065740.00006574
Grpmax Filtering AF
(95% confidence)
0.0001128
African/African American
Number of homozygotes00
Mean depth of coverage31.2

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Genetic Ancestry Group Frequencies

94140800.0002173
11526800.00006550
06803400.000
0346800.000
0519800.000
01060400.000
0482400.000
0209000.000
XX47780200.00005141
XY67432000.00008073
Total1015089400.00006627

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

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

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 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 quality012345678910Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

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

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50MGenome variants1.061e+4

Value: 1.061e+4 (genome samples)

This is the site quality distribution for all genome variants with 0.00005 <= AF < 0.0001.

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

Read Data


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