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SNV:22-46751347-C-T (GRCh37)

Dataset
ExomesGenomesTotal
Filters PassNo variant
Allele Count1212
Allele Number248070248070
Allele Frequency0.000048370.00004837
Grpmax Filtering AF
(95% confidence)		0.0001067
South Asian
Number of homozygotes00
Mean depth of coverage69.732.4

External Resources

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Genetic Ancestry Group Frequencies

73055800.0002291
1608000.0001645
411121400.00003597
03451000.000
01595600.000
0998400.000
01834000.000
02142800.000
XX211336200.00001764
XY1013470800.00007423
Total1224807000.00004837
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Co-occurrence

Check if this variant occurs on the same haplotype as another variant.

Nearby Variants

View variants located within 20 bases of this variant.

Variant Effect Predictor

This variant falls on 10 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. TRMU

      1. ENST00000290846.4
        Ensembl canonical transcript for TRMU
        HGVSp
        p.Arg294Trp
        Domains
        Polyphen
        possibly_damaging
        SIFT
        deleterious
      2. ENST00000381019.3
        HGVSp
        p.Arg294Trp
        Domains
        Polyphen
        possibly_damaging
        SIFT
        deleterious

  2. 3' UTR

    1. TRMU

      1. ENST00000381021.3
        HGVSc
        c.*473C>T
      2. ENST00000441818.1
        HGVSc
        c.*414C>T
      3. ENST00000453630.1
        HGVSc
        c.*418C>T

  3. non coding transcript exon

    1. TRMU

      1. ENST00000470831.1
        HGVSc
        n.741C>T
      2. ENST00000485559.1
        HGVSc
        n.1934C>T
      3. ENST00000491612.1
        HGVSc
        n.1046C>T

ClinVar

ClinVar Variation ID
441106
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
March 20, 2023

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> 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 quality0123456789101112Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0KAll 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 variants2.083e+4

Value: 2.083e+4 (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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