Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
Genomes
Filters Pass
Allele Count1
Allele Number152208
Allele Frequency0.000006570
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage30.7

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

14144600.00002413
06803800.000
01062800.000
01527200.000
091200.000
0520200.000
031400.000
0483400.000
0347000.000
0209200.000
XX17784000.00001285
XY07436800.000
Total115220800.000006570
Include:

Related Variants

Variant Effect Predictor

This variant falls on 4 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. intron

    1. PACS1

      1. ENST00000320580.9
        MANE Select transcript for PACS1
        HGVSc
        c.535-25C>T
      2. ENST00000527380.1
        HGVSc
        c.241-25C>T
      3. ENST00000533756.5
        HGVSc
        c.226-25C>T

In Silico Predictors

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

  • CADD: 1.84
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 11-66211000-66212000

Read more about this constraint.

ExpectedObservedConstraint
205.7190Z = 1.1
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 11-66191109-66231109

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 quality01Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants3.030e+2

Value: 3.030e+2 (genome samples)

Site quality approximation for all singleton variants.

Read Data


Always load read data