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Genomes
Filters Pass
Allele Count23
Allele Number152110
Allele Frequency0.0001512
Grpmax Filtering AF
(95% confidence)
0.0003592
African/African American
Number of homozygotes0
Mean depth of coverage31.5

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Genetic Ancestry Group Frequencies

224141000.0005313
1209200.0004780
06803200.000
01059400.000
01526600.000
091200.000
0518000.000
031600.000
0483600.000
0347200.000
XX117780600.0001414
XY127430400.0001615
Total2315211000.0001512
Include:

Related Variants

Variant Effect Predictor

This variant falls on 4 transcripts in 2 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. missense

    1. ADAMTS18

      1. ENST00000282849.10
        MANE Select transcript for ADAMTS18
        HGVSp
        p.Arg1155Gln
        Domains
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000562332.1
        HGVSp
        p.Arg4Gln
        Polyphen
        benign
        SIFT
        tolerated_low_confidence
  2. non coding transcript exon

    1. AC009139.1

      1. ENST00000648730.1
        Ensembl canonical transcript for AC009139.1
        HGVSc
        n.12C>T
      2. ENST00000561672.1
        HGVSc
        n.148C>T

In Silico Predictors

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

  • REVEL: 0.0820
  • CADD: 17.9
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.272

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 16-77289000-77290000

Read more about this constraint.

ExpectedObservedConstraint
236.9272Z = -2.28
o/e = 1.15
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 16-77269350-77309350

ClinVar

ClinVar Variation ID
1935623
Conditions
not provided
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
September 6, 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> 80Age0123Variant 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 quality0246810121416182022Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00MGenome variants2.167e+4

Value: 2.167e+4 (genome samples)

Site quality approximation for all variants with 0.0001 <= AF < 0.0002.

Read Data


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