NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) AND DE SANCTIS-CACCHIONE SYNDROME

Clinical significance:Likely pathogenic (Last evaluated: Mar 29, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000984001.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)]

NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)

Genes:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
ERCC6-PGBD3:ERCC6-PGBD3 readthrough [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
HGVS:
  • NC_000010.11:g.49530797G>A
  • NG_009442.1:g.13305C>T
  • NM_000124.4:c.466C>TMANE SELECT
  • NM_001277058.2:c.466C>T
  • NM_001277059.2:c.466C>T
  • NM_001346440.2:c.466C>T
  • NP_000115.1:p.Gln156Ter
  • NP_001263987.1:p.Gln156Ter
  • NP_001263988.1:p.Gln156Ter
  • NP_001333369.1:p.Gln156Ter
  • LRG_465t1:c.466C>T
  • LRG_465:g.13305C>T
  • NC_000010.10:g.50738843G>A
  • NM_000124.2:c.466C>T
  • NM_000124.3:c.466C>T
  • p.Gln156*
Protein change:
Q156*
Links:
dbSNP: rs751838040
NCBI 1000 Genomes Browser:
rs751838040
Molecular consequence:
  • NM_000124.4:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277058.2:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277059.2:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
DE SANCTIS-CACCHIONE SYNDROME (ERCC6)
Synonyms:
Xerodermic idiocy
Identifiers:
MONDO: MONDO:0010217; MedGen: C0265201; OMIM: 278800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790594Counsylno assertion criteria providedLikely pathogenic
(Mar 29, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, et al.

Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.

PubMed [citation]
PMID:
19894250

Details of each submission

From Counsyl, SCV000790594.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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