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Deletion (1 base):1-197328461-AT-A (GRCh38)

Dataset
Genomes
Filters Pass
Allele Count1
Allele Number152232
Allele Frequency0.000006569
Grpmax Filtering AF
(95% confidence)		—
Number of homozygotes0
Mean depth of coverage32.0

External Resources

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Genetic Ancestry Group Frequencies

16802000.00001470
01062600.000
01529200.000
091200.000
0519400.000
031600.000
04147200.000
0483600.000
0347000.000
0209400.000
XX07785200.000
XY17438000.00001344
Total115223200.000006569
Include:

Related Variants

Nearby Variants

View variants located within 20 bases of this variant.

Variant Effect Predictor

This variant falls on 7 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. frameshift

    1. CRB1

      1. ENST00000367400.8
        MANE Select transcript for CRB1
        HGVSp
        p.Ser38LeufsTer33
        Domains
        • PTHR24049 (PANTHER)
        pLoF
        High-confidence
      2. ENST00000367399.6
        HGVSp
        p.Ser38LeufsTer33
        Domains
        • 2 (Gene3D)
        pLoF
        High-confidence
      3. ENST00000538660.5
        HGVSp
        p.Ser38LeufsTer33
        Domains
        • 2 (Gene3D)
        pLoF
        High-confidence

  2. 5' UTR

    1. CRB1

      1. ENST00000535699.5
        HGVSc
        c.-96del

  3. non coding transcript exon

    1. CRB1

      1. ENST00000475659.1
        HGVSc
        n.249del

In Silico Predictors

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

  • CADD: 22.1
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 1-197328000-197329000

Read more about this constraint.

ExpectedObservedConstraint
78.572Z = 0.73
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-197308461-197348461

ClinVar

ClinVar Variation ID
99865
Germline classification
Pathogenic/Likely pathogenic
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
January 18, 2024

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 carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KAll 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 variants4.300e+2

Value: 4.300e+2 (genome samples)

Site quality approximation for all singleton variants.

Read Data


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