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NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro)

Variation ID: Help
329508
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro)

Allele ID:
349077
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
  • Chr19: 45352801 (on Assembly GRCh38)
  • Chr19: 45856059 (on Assembly GRCh37)
Protein change:
R616P
HGVS:
  • NG_007067.2:g.22787G>C
  • NM_000400.3:c.1847G>C
  • NP_000391.1:p.Arg616Pro
  • NC_000019.10:g.45352801C>G (GRCh38)
  • LRG_461t1:c.1847G>C
  • NC_000019.9:g.45856059C>G (GRCh37)
  • P18074:p.Arg616Pro
  • LRG_461p1:p.Arg616Pro
  • LRG_461:g.22787G>C
Links:
NCBI 1000 Genomes Browser:
rs376556895
Molecular consequence:
NM_000400.3:c.1847G>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00013
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
  • The Genome Aggregation Database (gnomAD) 0.00013
  • The Genome Aggregation Database (gnomAD), exomes 0.00014
  • Trans-Omics for Precision Medicine (TOPMed) 0.00016

1 Affected gene

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
Pathogenic
(Apr 27, 2017)
criteria provided, single submitter
clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000413569.3
Pathogenic
(Dec 12, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000577052.4
    Pathogenic
    (Oct 31, 2018)
    criteria provided, single submitter
    clinical testing
    • Cerebrooculofacioskeletal syndrome 2[MedGen | OMIM]
    • Xeroderma pigmentosum, group D[MedGen | OMIM]
    • Trichothiodystrophy 1, photosensitive[MedGen | OMIM]
    unknownFulgent GeneticsSCV000893535.1
    not providedno assertion providedphenotyping only
    • Cerebrooculofacioskeletal syndrome 2[MedGen | OMIM]
    • Trichothiodystrophy 1, photosensitive[MedGen | OMIM]
    unknown
      GenomeConnect, ClinGenSCV000607299.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, unknownCaucasians MedGen:C0043157not provided
      Fulgent Geneticsnot providednot providedunknownnot providednot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R616P variant in the ERCC2…Full description
      GenomeConnect, ClinGennot providednot providedunknownCaucasians MedGen:C0043157not providednot providedGenomeConnect assertions are r…Full description
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe ERCC2 c.1847G>C (p.Arg616P…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 24, 2019

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