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ExomesGenomesTotal
Filters PassPassDiscrepant frequencies
Allele Count42892714560
Allele Number14605801522421612822
Allele Frequency0.0029370.0017800.002827
Grpmax Filtering AF
(95% confidence)
0.003352
European (non-Finnish)
0.002371
European (non-Finnish)
0.003312
European (non-Finnish)
Number of homozygotes505

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.

1162954400.003926
4011117970640.003400
1476240800.002355
1185986200.001971
819099000.0008902
557497400.0007336
4580000.0006897
134485410.0002898
156377200.0002352
091200.000
XX236081179430.002907
XY220080102820.002746
Total4560161282250.002827
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 4 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. AMPH

      1. ENST00000356264.7
        MANE Select transcript for AMPH
        HGVSp
        p.Thr586Met
        Domains
        • mobidb (MobiDB_lite)
        • PTHR46514 (PANTHER)
      2. ENST00000325590.9
        HGVSp
        p.Thr544Met
        Domains
        • mobidb (MobiDB_lite)
        • PTHR46514 (PANTHER)
      3. ENST00000441628.5
        HGVSp
        p.Thr469Met
        Domains
        • mobidb (MobiDB_lite)
        • PTHR46514 (PANTHER)
  2. non coding transcript exon

    1. AMPH

      1. ENST00000460887.1
        HGVSc
        n.251C>T

In Silico Predictors

  • CADD: 4.98
  • REVEL: 0.0310
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.287
  • PolyPhen (max): 0.00600
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
711336
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
August 10, 2018

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> 80Age0100200300400500600700Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KVariant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KExome variants0200K400K600K800K1.00M1.20M1.40M1.60M1.80M2.00M2.20M2.40M2.60M2.80MGenome variants2.602e+54.648e+6

Value: 4.648e+6 (exome samples), 2.602e+5 (genome samples)

Site quality approximation for all variants with 0.001 <= AF < 0.002.

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

Read Data


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