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ExomesGenomesTotal
Filters PassPass
Allele Count60445649
Allele Number14618241523301614154
Allele Frequency0.00041320.00029540.0004021
Grpmax Filtering AF
(95% confidence)
0.0004685
European (non-Finnish)
0.0003540
European (non-Finnish)
0.0004686
European (non-Finnish)
Number of homozygotes202

External Resources

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Genetic Ancestry Group Frequencies

593118002020.0005025
236002600.0003832
206251200.0003199
77505000.00009327
56399600.00007813
12960800.00003377
04488200.000
0606200.000
091200.000
09108600.000
XX32681244210.0004013
XY32380171210.0004029
Total649161415420.0004021
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 20 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. synonymous

    1. VCP

      1. ENST00000358901.11
        MANE Select transcript for VCP
        HGVSp
        p.Asp802Asp
        Domains
        • 3ebb (ENSP_mappings)
      2. ENST00000417448.2
        HGVSp
        p.Asp757Asp
        Domains
        • mobidb (MobiDB_lite)
      3. ENST00000448530.6
        HGVSp
        p.Asp757Asp
        Domains
        • mobidb (MobiDB_lite)
  2. intron

    1. VCP

      1. ENST00000679647.1
        HGVSc
        c.2084-37T>C
  3. 3' UTR

    1. VCP

      1. ENST00000679902.1
        HGVSc
        c.*240T>C
      2. ENST00000681537.1
        HGVSc
        c.*4T>C
      3. ENST00000678018.1
        HGVSc
        c.*2377T>C
  4. non coding transcript exon

    1. VCP

      1. ENST00000479300.2
        HGVSc
        n.934T>C
      2. ENST00000493886.5
        HGVSc
        n.2680T>C
      3. ENST00000676836.2
        HGVSc
        n.3149T>C

In Silico Predictors

  • CADD: 8.72
  • SpliceAI: 0.00
  • Pangolin: 0.0800
  • phyloP: 1.04
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
194756
Germline classification
Benign/Likely benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
January 10, 2024

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> 80Age0102030405060708090Variant 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 quality050100150200250300350400450500550600Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KExome variants0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants4.427e+47.004e+5

Value: 7.004e+5 (exome samples), 4.427e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

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

Read Data


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