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NM_006929.4(SKIV2L):c.3212C>T (p.Ala1071Val)

Variation ID: Help
356346
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_006929.4(SKIV2L):c.3212C>T (p.Ala1071Val)

Allele ID:
299852
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
  • Chr6: 31968902 (on Assembly GRCh38)
  • Chr6: 31936679 (on Assembly GRCh37)
Protein change:
A1071V
HGVS:
  • NG_032652.1:g.15099C>T
  • NM_006929.4:c.3212C>T
  • NP_008860.4:p.Ala1071Val
  • NC_000006.12:g.31968902C>T (GRCh38)
  • NC_000006.11:g.31936679C>T (GRCh37)
  • Q15477:p.Ala1071Val
Links:
NCBI 1000 Genomes Browser:
rs449643
Molecular consequence:
NM_006929.4:c.3212C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.20148 (T)
  • 1000 Genomes Project 0.20148
  • Exome Aggregation Consortium (ExAC) 0.15023
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.19172
  • The Genome Aggregation Database (gnomAD) 0.17561
  • The Genome Aggregation Database (gnomAD), exomes 0.14418
  • Trans-Omics for Precision Medicine (TOPMed) 0.19419

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000462120.2
    Benign
    (Mar 29, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000540350.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinenot providednot providedgermlinenot providednot providednot providedVariant identified in a genomeā€¦Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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