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ExomesGenomesTotal
Filters PassNo variant
Allele Count101
Allele Number14618741520821613956
Allele Frequency6.841e-76.196e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

1117999608.475e-7
07497400.000
06000200.000
02960400.000
04487200.000
06398600.000
0606200.000
090800.000
09105000.000
06250200.000
XX081241000.000
XY180154600.000001248
Total1161395606.196e-7
Include:

Related Variants

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. synonymous

    1. CYC1

      1. ENST00000318911.5
        MANE Select transcript for CYC1
        HGVSp
        p.Phe172Phe
        Domains
  2. non coding transcript exon

    1. CYC1

      1. ENST00000525122.1
        HGVSc
        n.55C>T
      2. ENST00000528618.1
        HGVSc
        n.715C>T
      3. ENST00000533444.1
        HGVSc
        n.1181C>T

In Silico Predictors

  • CADD: 4.39
  • SpliceAI: 0.410
  • Pangolin: 0.260
  • phyloP: -6.53
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: 8-144096000-144097000

Read more about this constraint.

ExpectedObservedConstraint
249.4227Z = 1.42
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 8-144076399-144116399

ClinVar

ClinVar Variation ID
1940739
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
October 13, 2022

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 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 quality01Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants1.701e+3

Value: 1.701e+3 (exome 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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