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ExomesGenomesTotal
Filters PassNo variant
Allele Count202
Allele Number14618581522921614150
Allele Frequency0.0000013680.000001239
Grpmax Filtering AF
(95% confidence)
3.000e-7
European (non-Finnish)
2.800e-7
European (non-Finnish)
Number of homozygotes00

External Resources

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Genetic Ancestry Group Frequencies

2118001800.000001695
07503200.000
06002200.000
02960800.000
04488000.000
06403400.000
0606200.000
091200.000
09107200.000
06251000.000
XX181246200.000001231
XY180168800.000001247
Total2161415000.000001239
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 4 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. ERCC4

      1. ENST00000311895.8
        MANE Select transcript for ERCC4
        HGVSp
        p.Ala825Val
        Domains
        • 6sxa (ENSP_mappings)
      2. ENST00000682617.1
        HGVSp
        p.Ala871Val
        Domains
        • 3 (Gene3D)
  2. non coding transcript exon

    1. ERCC4

      1. ENST00000389138.7
        HGVSc
        n.1751C>T
  3. 3' UTR

    1. ERCC4

      1. ENST00000683962.1
        HGVSc
        c.*2168C>T

In Silico Predictors

  • CADD: 20.2
  • REVEL: 0.0550
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 4.99
  • PolyPhen (max): 0.00900
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 16-13948000-13949000

Read more about this constraint.

ExpectedObservedConstraint
219.4204Z = 1.04
o/e = 0.93
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 16-13928070-13968070

ClinVar

ClinVar Variation ID
852153
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
March 5, 2022

or find more information on the ClinVar website. Data displayed here is from ClinVar's November 3, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant 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 variants5.203e+4

Value: 5.203e+4 (exome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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