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Genomes
Filters Pass
Allele Count29
Allele Number152220
Allele Frequency0.0001905
Grpmax Filtering AF
(95% confidence)
0.0004995
African/African American
Number of homozygotes0
Mean depth of coverage32.6

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Genetic Ancestry Group Frequencies

294145800.0006995
06803200.000
01062200.000
01529000.000
091200.000
0519400.000
031600.000
0483000.000
0347200.000
0209400.000
XX157784600.0001927
XY147437400.0001882
Total2915222000.0001905
Include:

Related Variants

Variant Effect Predictor

This variant falls on 5 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. OBSL1

      1. ENST00000404537.6
        MANE Select transcript for OBSL1
        HGVSp
        p.Ala1882Thr
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
      2. ENST00000373876.5
        HGVSp
        p.Ala1790Thr
        Domains
        Polyphen
        possibly_damaging
        SIFT
        tolerated
  2. non coding transcript exon

    1. OBSL1

      1. ENST00000462534.5
        HGVSc
        n.509G>A
      2. ENST00000465149.1
        HGVSc
        n.4541G>A
      3. ENST00000489804.5
        HGVSc
        n.515G>A

In Silico Predictors

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

  • REVEL: 0.475
  • CADD: 24.9
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.460

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

ClinVar

ClinVar Variation ID
1046550
Conditions
not provided
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
August 28, 2021

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> 80Age01234Variant 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 quality0246810121416182022242628Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00MGenome variants2.207e+4

Value: 2.207e+4 (genome samples)

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

Read Data


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