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NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu)

Variation ID: Help
255167
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign/Likely benign
Last evaluated:
Jul 28, 2015
Number of submission(s):
2
See supporting ClinVar records

Allele(s) Help

NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu)

Allele ID:
253769
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
  • Chr10: 49459232 (on Assembly GRCh38)
  • Chr10: 50667278 (on Assembly GRCh37)
Protein change:
D1355E
HGVS:
  • NG_009442.1:g.84870T>G
  • NM_000124.3:c.4065T>G
  • NP_000115.1:p.Asp1355Glu
  • NC_000010.11:g.49459232A>C (GRCh38)
  • NC_000010.10:g.50667278A>C (GRCh37)
  • NM_000124.2:c.4065T>G
  • Q03468:p.Asp1355Glu
  • LRG_465p1:p.Asp1355Glu
  • LRG_465:g.84870T>G
Links:
NCBI 1000 Genomes Browser:
rs34917815
Molecular consequence:
NM_000124.3:c.4065T>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00260 (C)
  • ExAC 0.00070 (C)

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 benigncriteria provided, single submitter
clinical testinggermline
    PreventionGenetics,PreventionGeneticsSCV000302378.1
    Benign
    (Jul 28, 2015)
    criteria provided, single submitter
    clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331397.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided2germlinenot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
    PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 10, 2018