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NM_000078.2(CETP):c.1264G>A (p.Val422Ile)

Variation ID: Help
17525
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign, association
Last evaluated:
Jun 14, 2016
Number of submission(s):
2
Condition(s):
  • Hyperalphalipoproteinemia [MedGen - Orphanet - OMIM]
  • High density lipoprotein cholesterol level quantitative trait locus 10 [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000078.2(CETP):c.1264G>A (p.Val422Ile)

Allele ID:
32564
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
  • Chr16: 56982180 (on Assembly GRCh38)
  • Chr16: 57016092 (on Assembly GRCh37)
Protein change:
I405V, V422I
HGVS:
  • NG_008952.1:g.25258G>A
  • NM_000078.2:c.1264G>A
  • NP_000069.2:p.Val422Ile
  • NC_000016.10:g.56982180G>A (GRCh38)
  • NC_000016.9:g.57016092G>A (GRCh37)
  • P11597:p.Val422Ile
Links:
NCBI 1000 Genomes Browser:
rs5882
Molecular consequence:
NM_000078.2:c.1264G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.59118 (A)
  • GMAF 0.46610 (G)

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,IlluminaSCV000398223.2
    association
    (Jan 13, 2010)
    no assertion criteria providedliterature only
    • High density lipoprotein cholesterol level quantitative trait locus 10[MedGen]
    germlineOMIMSCV000039364.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 6, 2017