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Genomes
Filters AC0
Allele Count0
Allele Number152204
Allele Frequency0.000
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage32.6

External Resources

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Genetic Ancestry Group Frequencies

06803000.000
01062400.000
01527800.000
091200.000
0519600.000
031600.000
04144800.000
0483600.000
0347200.000
0209200.000
XX07783400.000
XY07437000.000
Total015220400.000
Include:

Related Variants

Variant Effect Predictor

This variant falls on 6 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. synonymous

    1. LIPG

      1. ENST00000261292.9
        MANE Select transcript for LIPG
        HGVSp
        p.Ile97Ile
        Domains
      2. ENST00000427224.6
        HGVSp
        p.Ile97Ile
        Domains
      3. ENST00000577628.5
        HGVSp
        p.Ile133Ile
        Domains

In Silico Predictors

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

  • CADD: 11.0
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 18-49567000-49568000

Read more about this constraint.

ExpectedObservedConstraint
165.5137Z = 2.21
o/e = 0.83
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 18-49547453-49587453

ClinVar

ClinVar Variation ID
2989731
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
October 18, 2023

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 quality01Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants9.870e+2

Value: 9.870e+2 (genome samples)

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

Read Data


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