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ExomesGenomesTotal
Filters PassPass
Allele Count819
Allele Number243624 *31276 *274900 *
Allele Frequency0.000032840.000031970.00003274
Grpmax Filtering AF
(95% confidence)
0.00003007
European (non-Finnish)
Number of homozygotes000

Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.

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Genetic Ancestry Group Frequencies

812264400.00006523
13046600.00003282
02447800.000
03520600.000
01015400.000
01979200.000
02508400.000
000-
000-
000-
XX412507400.00003198
XY514982600.00003337
Total926782400.00003360
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

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. synonymous

    1. EED

      1. ENST00000263360.6
        Ensembl canonical transcript for EED
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
      2. ENST00000327320.4
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
      3. ENST00000351625.6
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
  2. non coding transcript exon

    1. EED

      1. ENST00000525244.1
        HGVSc
        n.58C>T

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 11-85956000-85957000

Read more about this constraint.

ExpectedObservedConstraint
137.3160Z = -1.94
o/e = 1.17
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 11-85936367-85976367

ClinVar

ClinVar Variation ID
796895
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
June 18, 2019

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 carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0123456789Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0K55.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants3.454e+27.590e+3

Value: 7.590e+3 (exome samples), 3.454e+2 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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