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Deletion (10 bases):3-186572030-CCCGAGGCTTT-C (GRCh37)

Dataset
ExomesGenomesTotal
Filters PassNo variant
Allele Count55
Allele Number251142251142
Allele Frequency0.000019910.00001991
Grpmax Filtering AF
(95% confidence)		—
Number of homozygotes00
Mean depth of coverage64.630.7

External Resources

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Genetic Ancestry Group Frequencies

41002600.0003990
111362000.000008801
03456200.000
01625400.000
01839400.000
02160000.000
03056200.000
0612400.000
XX211541200.00001733
XY313573000.00002210
Total525114200.00001991
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Co-occurrence

Check if this variant occurs on the same haplotype as another variant.

Nearby Variants

View variants located within 20 bases of this variant.

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. frameshift

    1. ADIPOQ

      1. ENST00000412955.2
        Ensembl canonical transcript for ADIPOQ
        HGVSp
        p.Gly93GlufsTer73
        Domains
        pLoF
        High-confidence
      2. ENST00000320741.2
        HGVSp
        p.Gly93GlufsTer73
        Domains
        pLoF
        High-confidence
      3. ENST00000444204.2
        HGVSp
        p.Gly93GlufsTer73
        Domains
        pLoF
        High-confidence

  2. non coding transcript exon

    1. ADIPOQ-AS1

      1. ENST00000422718.1
        Ensembl canonical transcript for ADIPOQ-AS1
        HGVSc
        n.1873_1882delAAAGCCTCGG

ClinVar

ClinVar Variation ID
2501708
Germline classification
Pathogenic
Review status
no assertion criteria provided (0 stars)
Last evaluated
May 11, 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 carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012345Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800KExome variants9.620e+3

Value: 9.620e+3 (exome samples)

This is the site quality distribution for all exome variants with 0 <= AF < 0.00005.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

Read Data


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