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ExomesGenomesTotal
Filters No variantPass
Allele Count3434
Allele Number152010152010
Allele Frequency0.00022370.0002237
Grpmax Filtering AF
(95% confidence)
0.001414
Admixed American
Number of homozygotes00
Mean depth of coverage31.8

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Genetic Ancestry Group Frequencies

301527000.001965
1518600.0001928
34135400.00007254
06800800.000
0346800.000
01059000.000
0481800.000
0208800.000
XX127778000.0001543
XY227423000.0002964
Total3415078200.0002255

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

Include:

Related Variants

Variant Effect Predictor

This variant falls on 11 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. CEP63

      1. ENST00000675561.1
        MANE Select transcript for CEP63
        HGVSp
        p.Arg191Gln
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
      2. ENST00000513612.7
        Ensembl canonical transcript for CEP63
        HGVSp
        p.Arg191Gln
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
      3. ENST00000332047.10
        HGVSp
        p.Arg191Gln
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
  2. intron

    1. CEP63

      1. ENST00000510625.1
        HGVSc
        n.1926+8334G>A
  3. 3' UTR

    1. CEP63

      1. ENST00000650279.2
        HGVSc
        c.*249G>A

In Silico Predictors

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

  • REVEL: 0.279

    Note This variant has multiple REVEL scores

  • CADD: 26.4
  • SpliceAI: 0.0300 (acceptor_gain)
  • PrimateAI: 0.605

ClinVar

ClinVar Variation ID
434745
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
October 3, 2023

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 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 quality051015202530Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KAll individuals

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

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants2.393e+4

Value: 2.393e+4 (genome samples)

This is the site quality distribution for all genome variants with 0.0002 <= AF < 0.0005.

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

Read Data


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