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NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu)

Variation ID: Help
300041
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu)

Allele ID:
310414
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
  • Chr10: 49461413 (on Assembly GRCh38)
  • Chr10: 50669459 (on Assembly GRCh37)
Protein change:
V1308L
HGVS:
  • NG_009442.1:g.82689G>C
  • NM_000124.3:c.3922G>C
  • NP_000115.1:p.Val1308Leu
  • NC_000010.11:g.49461413C>G (GRCh38)
  • NC_000010.10:g.50669459C>G (GRCh37)
  • Q03468:p.Val1308Leu
  • LRG_465p1:p.Val1308Leu
  • LRG_465:g.82689G>C
Links:
NCBI 1000 Genomes Browser:
rs2229761
Molecular consequence:
NM_000124.3:c.3922G>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00720 (G)
  • ExAC 0.00223 (G)

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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Cerebrooculofacioskeletal Syndrome[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000362755.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000362756.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000362757.2
        Likely benign
        (May 30, 2017)
        criteria provided, single submitter
        clinical testinggermline
          Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000609876.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermlinenot providednot provided
          Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Nov 3, 2018