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ExomesGenomesTotal
Filters PassPass
Allele Count50959
Allele Number251220 *31282 *282502 *
Allele Frequency0.00019900.00028770.0002088
Grpmax Filtering AF
(95% confidence)
0.0003041
European (non-Finnish)
0.0002580
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

5312904400.0004107
33540600.00008473
22490200.00008031
01033800.000
01995400.000
02502200.000
03061600.000
000-
000-
000-
XX2912930200.0002243
XY3015320000.0001958
Total5827528200.0002107
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 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 quality0510152025303540455055Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality020.0K40.0K60.0K80.0K100K120K140K160KExome variants0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants4.917e+31.666e+5

Value: 1.666e+5 (exome samples), 4.917e+3 (genome samples)

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

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

Read Data


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