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Genomes
Filters Pass
Allele Count9
Allele Number31282 *
Allele Frequency0.0002877
Grpmax Filtering AF
(95% confidence)
0.0002580
European (non-Finnish)
Number of homozygotes0
Mean depth of coverage33.2

Warning This variant is covered in fewer than 50% of individuals in gnomAD v3.1.2 genomes. This may indicate a low-quality site.

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Genetic Ancestry Group Frequencies

5312904400.0004107
1722000.0001385
33540600.00008473
22490200.00008031
02502200.000
01995400.000
03061600.000
01033800.000
000-
000-
XX2912930200.0002243
XY3015320000.0001958
Total5928250200.0002088
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 2 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. EPHA2

      1. ENST00000358432.5
        Ensembl canonical transcript for EPHA2
        HGVSp
        p.Gly662Ser
        Domains
        Polyphen
        benign
        SIFT
        tolerated
  2. non coding transcript exon

    1. EPHA2

      1. ENST00000462805.1
        HGVSc
        n.202G>A

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 1-16459000-16460000

Read more about this constraint.

ExpectedObservedConstraint
207.3190Z = 1.2
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-16439744-16479744

ClinVar

ClinVar Variation ID
293416
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
January 25, 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> 80Age01234567Variant 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 quality0510152025303540455055Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll 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 variants4.917e+3

Value: No value for this metric (exome samples), 4.917e+3 (genome samples)

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

Read Data


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