NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs) AND Cockayne syndrome B

Clinical significance:Likely pathogenic (Last evaluated: Oct 22, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000170390.1

Allele description [Variation Report for NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs)]

NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs)
HGVS:
  • NC_000010.11:g.49461382_49461383delCT
  • NM_000124.3:c.3952_3953delAG
  • NP_000115.1:p.Arg1318Glyfs
  • LRG_465:g.82719_82720delAG
  • LRG_465p1:p.Arg1318Glyfs
  • NC_000010.10:g.50669428_50669429delCT
  • NM_000124.2:c.3952_3953delAG
Links:
dbSNP: rs765825423
NCBI 1000 Genomes Browser:
rs765825423
Allele Frequency:
0.00001(-)
Molecular consequence:
  • NM_000124.3:c.3952_3953delAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222810Claritas Genomicscriteria provided, single submitter
Likely pathogenic
(Oct 22, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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 Claritas Genomics, SCV000222810.1

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

Last Updated: Aug 4, 2018