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NM_004628.4(XPC):c.2815C>A (p.Gln939Lys)

Variation ID: Help
190215
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_004628.4(XPC):c.2815C>A (p.Gln939Lys)

Allele ID:
187973
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
  • Chr3: 14145949 (on Assembly GRCh38)
  • Chr3: 14187449 (on Assembly GRCh37)
Protein change:
Q939K
HGVS:
  • NG_011763.1:g.37724C>A
  • NM_004628.4:c.2815C>A
  • NP_004619.3:p.Gln939Lys
  • NC_000003.12:g.14145949G>T (GRCh38)
  • LRG_472t1:c.2815C>A
  • NC_000003.11:g.14187449G>T (GRCh37)
  • Q01831:p.Gln939Lys
  • LRG_472p1:p.Gln939Lys
  • LRG_472:g.37724C>A
Links:
NCBI 1000 Genomes Browser:
rs2228001
Molecular consequence:
NM_004628.4:c.2815C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.31530 (G)
  • 1000 Genomes Project 0.68470
  • Exome Aggregation Consortium (ExAC) 0.63254
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.64206
  • The Genome Aggregation Database (gnomAD) 0.65555
  • The Genome Aggregation Database (gnomAD), exomes 0.63425
  • Trans-Omics for Precision Medicine (TOPMed) 0.64307

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 20, 2012)
criteria provided, single submitter
clinical testing
  • not specified (Autosomal recessive inheritance)[MedGen]
germline
    Claritas GenomicsSCV000222873.1
    Benigncriteria provided, single submitter
    clinical testinggermline
      PreventionGenetics,PreventionGeneticsSCV000310542.1
      Benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000441362.2
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000484037.2

          PGx

          Clinical significance
          (Last evaluated)
          Review status
          (Assertion method)
          Collection methodCondition(s)
          (Mode of inheritance)
          OriginCitationsSubmitter - Study nameSubmission accession
          drug response
          (May 3, 2017)
          reviewed by expert panel
          curationCondition: cisplatin response - Toxicity/ADR
          • Drug reported used for: Neoplasms[MedGen]
          • Drug reported used for: Neoplasms;Osteosarcoma;Urinary Bladder Neoplasms
          • Drug reported used for: Neoplasms;Ovarian Neoplasms
          • Drug reported used for: Medulloblastoma[MeSH | MedGen | Orphanet | OMIM | Human Phenotype Ontology]
          • Drug reported used for: Brain Neoplasms
          germlinePharmGKBSCV000268257.3
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermlinenot providednot provided
          Claritas Genomicsnot providednot providedgermlinenot providednot providednot providednot provided
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 1B:…Full description
          PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Mar 31, 2019

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