NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)

NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)

Variant type:
single nucleotide variant
Cytogenetic location:
10q11.2
Genomic location:
  • Chr10:50686483 (on Assembly GRCh37)
  • Chr10:49478437 (on Assembly GRCh38)
Protein change:
R735*
HGVS:
  • NG_009442.1:g.65665C>T
  • NM_000124.3:c.2203C>T
  • NC_000010.11:g.49478437G>A (GRCh38)
  • NP_000115.1:p.Arg735Ter
  • NC_000010.10:g.50686483G>A (GRCh37)
  • NM_000124.2:c.2203C>T
Links:
NCBI 1000 Genomes Browser:
rs121917901
Molecular consequence:
NM_000124.3:c.2203C>T: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
GO-ESP 0.00008 (A)

Clinical significance

NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)

Clinical significance:
Pathogenic
Review status:
2 stars out of maximum of 4 stars
classified by multiple submitters
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

1 Affected gene

Browser views

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Jun 20, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000021925
Pathogenic
(Jun 20, 2013)
classified by single submitter
(literature only)
literature only
  • De Sanctis-Cacchione syndrome (Autosomal recessive inheritance)[MedGen | OMIM]
germlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000021926

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Colella et al. (2000) demonstrated homozygosity for the R735X mutation in the ERCC6 gene in 2 sibs with de Sanctis-Cacchione syndrome (278800), a form of xeroderma pigmentosum associated with severe neurologic involvement. The authors concluded that there is no simple correlation between molecular defects in Cockayne syndrome B and clinical features, and that other genetic and/or environmental factors may determine the pathologic phenotype.
In a Turkish patient with Cockayne syndrome B (133540) and consanguineous parents, Mallery et al. (1998) identified a homozygous 2282C-T transition in the ERCC6 gene, resulting in an arg735-to-ter (R735X) substitution. This same truncating mutation was found in compound heterozygous state with an arg453-to-ter (R453X; 609413.0004) mutation in another patient studied by Mallery et al. (1998).

Last Updated: Mar 24, 2015