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Genomes
Filters Pass
Allele Count1
Allele Number152198
Allele Frequency0.000006570
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage31.7

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Genetic Ancestry Group Frequencies

16803000.00001470
01061600.000
01527600.000
091200.000
0519800.000
031600.000
04145600.000
0483400.000
0347200.000
0208800.000
XX07784200.000
XY17435600.00001345
Total115219800.000006570
Include:

Related Variants

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. MICU1

      1. ENST00000361114.10
        MANE Select transcript for MICU1
        HGVSp
        p.Met345Ile
        Domains
        • cd16173 (CDD)
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000642044.1
        Ensembl canonical transcript for MICU1
        HGVSp
        p.Met351Ile
        Domains
        • cd16173 (CDD)
        Polyphen
        possibly_damaging
        SIFT
        tolerated
      3. ENST00000398761.8
        HGVSp
        p.Met347Ile
        Domains
        • cd16173 (CDD)
        Polyphen
        possibly_damaging
        SIFT
        tolerated

In Silico Predictors

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

  • REVEL: 0.0690
  • CADD: 22.3
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.708

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 10-72423000-72424000

Read more about this constraint.

ExpectedObservedConstraint
149.4136Z = 1.09
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 10-72403270-72443270

ClinVar

ClinVar Variation ID
1461027
Conditions
not provided
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
August 23, 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 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 carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants4.780e+2

Value: 4.780e+2 (genome samples)

Site quality approximation for all singleton variants.

Read Data


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