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ExomesGenomesTotal
Filters PassPass
Allele Count990362710530
Allele Number14513381523261603664
Allele Frequency0.0068230.0041160.006566
Grpmax Filtering AF
(95% confidence)
0.01946
South Asian
0.01629
South Asian
0.01943
South Asian
Number of homozygotes63467

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

179288648400.02021
78602820.01294
5406206200.008701
77411177246250.006576
1402937800.004765
1315651800.002318
827434600.001103
236396600.0003596
34456000.00006732
091200.000
XX5034807370220.006235
XY5496796294450.006902
Total105301603664670.006566
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 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. ARV1

      1. ENST00000310256.7
        MANE Select transcript for ARV1
        HGVSp
        p.Gly101Glu
        Domains
      2. ENST00000366658.6
        HGVSp
        p.Gly61Glu
        Domains
      3. ENST00000435927.5
        HGVSp
        p.Gly88Glu
        Domains
  2. non coding transcript exon

    1. ARV1

      1. ENST00000497753.1
        HGVSc
        n.667G>A

In Silico Predictors

  • CADD: 26.4
  • REVEL: 0.256
  • SpliceAI: 0.300
  • Pangolin: 0.280
  • phyloP: 7.04
  • PolyPhen (max): 0.996
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 1-230990000-230991000

Read more about this constraint.

ExpectedObservedConstraint
191.5164Z = 1.99
o/e = 0.86
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-230970117-231010117

ClinVar

ClinVar Variation ID
789436
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
December 31, 2019

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> 80Age02004006008001.00K1.20K1.40KVariant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KVariant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KExome variants0500K1.00M1.50M2.00M2.50M3.00MGenome variants6.618e+58.270e+6

Value: 8.270e+6 (exome samples), 6.618e+5 (genome samples)

Site quality approximation for all variants with 0.002 <= AF < 0.005.

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

Read Data


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