NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) AND Cockayne syndrome B

Clinical significance:Likely pathogenic (Last evaluated: Aug 12, 2014)

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:
RCV000193828.2

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:
Cockayne syndrome B (CSB)
Synonyms:
Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223926Knight Diagnostic Laboratories, Oregon Health and Sciences Universityno assertion criteria provided
Likely pathogenic
(Aug 12, 2014)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV000223926.1

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

Last Updated: Oct 30, 2021

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