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Genomes
Filters Pass
Allele Count34
Allele Number152010
Allele Frequency0.0002237
Grpmax Filtering AF
(95% confidence)
0.001414
Admixed American
Number of homozygotes0
Mean depth of coverage31.8

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

301527000.001965
1518600.0001928
34135400.00007254
06800800.000
01059000.000
091200.000
031600.000
0481800.000
0346800.000
0208800.000
XX127778000.0001543
XY227423000.0002964
Total3415201000.0002237
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

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 3-134545000-134546000

Read more about this constraint.

ExpectedObservedConstraint
190.5191Z = -0.03
o/e = 1
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 3-134525602-134565602

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

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)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

Read Data


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