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Genomes
Filters Pass
Allele Count31776
Allele Number151754
Allele Frequency0.2094
Grpmax Filtering AF
(95% confidence)
0.2734
European (non-Finnish)
Number of homozygotes3930
Mean depth of coverage31.6

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.

108434661800.3128
266910360.2923
147951902180.2850
2984105324090.2833
187616778825650.2768
7231690.2278
4302084450.2063
2949152362850.1936
8254832780.1707
2926414001050.07068
XX162407765420230.2091
XY155367410019070.2097
Total3177615175439300.2094
Include:

Related Variants

Variant Effect Predictor

This variant falls on 3 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. COG6

      1. ENST00000455146.8
        MANE Select transcript for COG6
        HGVSc
        c.1074+18T>C
      2. ENST00000416691.5
        HGVSc
        c.1074+18T>C
      3. ENST00000356576.8
        HGVSc
        c.*911+18T>C

In Silico Predictors

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

  • CADD: 4.92
  • SpliceAI: 0.0100 (donor_gain)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 13-39689000-39690000

Read more about this constraint.

ExpectedObservedConstraint
151.2163Z = -0.96
o/e = 1.08
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 13-39669842-39709842

ClinVar

ClinVar Variation ID
95990
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
January 31, 2024

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> 80Age02004006008001.00K1.20K1.40K1.60KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.131e+7

Value: 3.131e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

Read Data


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