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ExomesGenomesTotal
Filters PassPass
Allele Count415
Allele Number251408 *31398 *282806 *
Allele Frequency0.000015910.000031850.00001768
Grpmax Filtering AF
(95% confidence)
0.00001122
European (non-Finnish)
Number of homozygotes000

Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.

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Genetic Ancestry Group Frequencies

512912600.00003872
02496400.000
03543600.000
01036600.000
01995400.000
02512200.000
03061200.000
000-
000-
000-
XX112945600.000007725
XY415335000.00002608
Total527558000.00001814
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 Effect Predictor

This variant falls on 5 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. CYP11B1

      1. ENST00000292427.4
        Ensembl canonical transcript for CYP11B1
        HGVSp
        p.Val316Met
        Domains
        Polyphen
        probably_damaging
        SIFT
        deleterious
      2. ENST00000377675.3
        HGVSp
        p.Val387Met
        Domains
        Polyphen
        benign
        SIFT
        deleterious
      3. ENST00000517471.1
        HGVSp
        p.Val316Met
        Domains
        Polyphen
        probably_damaging
        SIFT
        deleterious
  2. intron

    1. GML

      1. ENST00000522728.1
        HGVSc
        c.181+35024C>T
  3. non coding transcript exon

    1. CYP11B1

      1. ENST00000314111.4
        HGVSc
        n.979G>A

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
995869
Germline classification
Pathogenic/Likely pathogenic
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
March 30, 2024

or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012345Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants1.138e+31.532e+4

Value: 1.532e+4 (exome samples), 1.138e+3 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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