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ExomesGenomesTotal
Filters PassNo variant
Allele Count11
Allele Number251462 *251462 *
Allele Frequency0.0000039770.000003977
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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Genetic Ancestry Group Frequencies

111375400.000008791
01625400.000
03459200.000
01008000.000
01838600.000
02164800.000
03061600.000
000-
000-
000-
XX011555400.000
XY113590800.000007358
Total124533000.000004076
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 2 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. FBN1

      1. ENST00000316623.5
        Ensembl canonical transcript for FBN1
        HGVSp
        p.Ala972Val
        Domains
        Polyphen
        benign
  2. intron

    1. FBN1

      1. ENST00000537463.2
        HGVSc
        c.637-15368C>T

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 15-48782000-48783000

Read more about this constraint.

ExpectedObservedConstraint
172157Z = 1.15
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 15-48762215-48802215

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants2.086e+3

Value: 2.086e+3 (exome 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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