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ExomesGenomesTotal
Filters PassPass
Allele Count4749894113690
Allele Number588716 *152290741006 *
Allele Frequency0.0080670.058710.01847
Grpmax Filtering AF
(95% confidence)
0.2009
African/African American
0.1986
African/African American
0.2004
African/African American
Number of homozygotes3698641233

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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.

116145708012050.2035
62350410.01769
56233516170.01677
6774363880.01551
68443243820.001582
836489600.001279
62218600.0002704
24452000.00004492
03831600.000
091200.000
XX73793514466860.02100
XY63113895605470.01620
Total1369074100612330.01847
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript 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. MPLKIP

      1. ENST00000306984.8
        MANE Select transcript for MPLKIP
        HGVSc
        c.340-139A>G

In Silico Predictors

  • CADD: 8.38
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -1.18
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

ClinVar

ClinVar Variation ID
1289953
Conditions
not provided
Germline classification
Benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
July 14, 2018

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> 80Age0100200300400500600700800900Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0KVariant carriers020.0K40.0K60.0K80.0K100K120K140K160K180K200K220KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KExome variants0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants7.289e+64.173e+6

Value: 4.173e+6 (exome samples), 7.289e+6 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

Read Data


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