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ExomesGenomesTotal
Filters PassNo variant
Allele Count66
Allele Number250652250652
Allele Frequency0.000023940.00002394
Grpmax Filtering AF
(95% confidence)
0.0001209
African/African American
Number of homozygotes00
Mean depth of coverage48.931.9

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Genetic Ancestry Group Frequencies

51620000.0003086
13053600.00003275
03441000.000
011339400.000
01007000.000
01838000.000
02156200.000
0610000.000
XX411513400.00003474
XY213551800.00001476
Total625065200.00002394
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 5 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. TCAIM

      1. ENST00000342649.4
        Ensembl canonical transcript for TCAIM
        HGVSp
        p.Arg362Gln
        Domains
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000417237.1
        HGVSp
        p.Arg362Gln
        Domains
        Polyphen
        benign
        SIFT
        tolerated
  2. 3' UTR

    1. TCAIM

      1. ENST00000412611.2
        HGVSc
        c.*661G>A
      2. ENST00000431657.1
        HGVSc
        c.*785G>A
  3. non coding transcript exon

    1. TCAIM

      1. ENST00000469246.1
        HGVSc
        n.81G>A

ClinVar

ClinVar Variation ID
3175024
Conditions
not specified
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
July 14, 2021

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> 80Age012Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0123456Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800KExome variants2.674e+3

Value: 2.674e+3 (exome samples)

This is the site quality distribution for all exome variants with 0 <= AF < 0.00005.

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

Read Data


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