Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters PassNo variant
Allele Count101
Allele Number14618761523181614194
Allele Frequency6.841e-76.195e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

17504800.00001332
06003000.000
02960600.000
04488200.000
06403200.000
0606200.000
0118003200.000
091200.000
09108200.000
06250800.000
XX081247800.000
XY180171600.000001247
Total1161419406.195e-7
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 8 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. GCK

      1. ENST00000403799.8
        MANE Select transcript for GCK
        HGVSp
        p.Gly72Arg
        Domains
      2. ENST00000345378.7
        HGVSp
        p.Gly73Arg
        Domains
      3. ENST00000437084.1
        HGVSp
        p.Gly72Arg
        Domains
  2. 3' UTR

    1. GCK

      1. ENST00000395796.8
        HGVSc
        c.*212G>A
  3. non coding transcript exon

    1. GCK

      1. ENST00000682635.1
        HGVSc
        n.700G>A

In Silico Predictors

  • CADD: 26.8
  • REVEL: 0.994
  • SpliceAI: 0.00
  • Pangolin: 0.100
  • phyloP: 8.81
  • PolyPhen (max): 1.00
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
36209
Germline classification
Pathogenic
Review status
reviewed by expert panel (3 stars)
Last evaluated
August 13, 2023

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 carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll 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 variants1.914e+3

Value: 1.914e+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


Always load read data