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Genomes
Filters Pass
Allele Count4
Allele Number152230
Allele Frequency0.00002628
Grpmax Filtering AF
(95% confidence)
0.00001972
European (non-Finnish)
Number of homozygotes0
Mean depth of coverage31.7

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Genetic Ancestry Group Frequencies

46804400.00005879
01062200.000
01528800.000
091200.000
0519000.000
031600.000
04146000.000
0483600.000
0347200.000
0209000.000
XX37786000.00003853
XY17437000.00001345
Total415223000.00002628
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 9 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. POLD1

      1. ENST00000440232.7
        MANE Select transcript for POLD1
        HGVSp
        p.Arg6Pro
        Domains
        • 6s1m (ENSP_mappings)
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000595904.6
        Ensembl canonical transcript for POLD1
        HGVSp
        p.Arg6Pro
        Domains
        • mobidb (MobiDB_lite)
        Polyphen
        benign
        SIFT
        tolerated
      3. ENST00000593887.1
        HGVSp
        p.Arg6Pro
        Domains
        • mobidb (MobiDB_lite)
        Polyphen
        benign
        SIFT
        tolerated
  2. non coding transcript exon

    1. POLD1

      1. ENST00000600746.1
        HGVSc
        n.42G>C

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • REVEL: 0.0830
  • CADD: 15.4
  • SpliceAI: 0.0100 (acceptor_gain)
  • PrimateAI: 0.699

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
239256
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
July 31, 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> 80Age01Variant 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 quality01234Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants1.255e+4

Value: 1.255e+4 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

Read Data


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