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NM_020361.4(CPA6):c.1021A>G (p.Ile341Val)

Variation ID: Help
363604
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Dec 27, 2017
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_020361.4(CPA6):c.1021A>G (p.Ile341Val)

Allele ID:
305785
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.2
Genomic location:
  • Chr8: 67434058 (on Assembly GRCh38)
  • Chr8: 68346293 (on Assembly GRCh37)
Protein change:
I341V
HGVS:
  • NG_027682.1:g.317328A>G
  • NM_020361.4:c.1021A>G
  • NP_065094.3:p.Ile341Val
  • NC_000008.11:g.67434058T>C (GRCh38)
  • NC_000008.10:g.68346293T>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs766177388
Molecular consequence:
NM_020361.4:c.1021A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00007
  • The Genome Aggregation Database (gnomAD) 0.00010
  • The Genome Aggregation Database (gnomAD), exomes 0.00012
  • Trans-Omics for Precision Medicine (TOPMed) 0.00010

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000474742.2
    Uncertain significance
    (Dec 27, 2017)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000771722.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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