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ExomesGenomesTotal
Filters PassPass
Allele Count213
Allele Number14618901521301614020
Allele Frequency0.0000013680.0000065730.000001859
Grpmax Filtering AF
(95% confidence)
3.000e-7
European (non-Finnish)
6.800e-7
European (non-Finnish)
Number of homozygotes000

External Resources

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Genetic Ancestry Group Frequencies

3118004000.000002542
07492800.000
05997800.000
02960800.000
04486400.000
06403800.000
0608400.000
091000.000
09108200.000
06248800.000
XX281246600.000002462
XY180155400.000001248
Total3161402000.000001859
Include:

Related Variants

Variant Effect Predictor

This variant falls on 19 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. TP53

      1. ENST00000269305.9
        MANE Select transcript for TP53
        HGVSp
        p.Ser303Gly
        Domains
        • 1tsr (ENSP_mappings)
      2. ENST00000359597.8
        HGVSp
        p.Ser303Gly
        Domains
        • mobidb (MobiDB_lite)
        • PTHR11447 (PANTHER)
      3. ENST00000420246.6
        HGVSp
        p.Ser303Gly
        Domains
        • mobidb (MobiDB_lite)
        • PTHR11447 (PANTHER)
  2. intron

    1. TP53

      1. ENST00000413465.6
        HGVSc
        c.782+468A>G

In Silico Predictors

  • CADD: 20.5
  • REVEL: 0.370
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 2.93
  • PolyPhen (max): 0.0260
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
142332
Germline classification
Likely benign
Review status
reviewed by expert panel (3 stars)
Last evaluated
May 7, 2021

or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 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 quality0123Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00M6.50MExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants6.100e+21.094e+3

Value: 1.094e+3 (exome samples), 6.100e+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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