NM_001290285.1(ERCC8):c.-83_-81delinsTG AND Cockayne syndrome type A

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000984170.3

Allele description [Variation Report for NM_001290285.1(ERCC8):c.-83_-81delinsTG]

NM_001290285.1(ERCC8):c.-83_-81delinsTG

Genes:
ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
ERCC8-AS1:ERCC8 antisense RNA 1 [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
5q12.1
Genomic location:
Preferred name:
NM_001290285.1(ERCC8):c.-83_-81delinsTG
HGVS:
  • NC_000005.10:g.60918367_60918369delinsCA
  • NG_009289.1:g.31710_31712delinsTG
  • NM_001007233.2:c.121_123delinsTG
  • NM_001007234.3:c.295_297delinsTG
  • NM_001290285.1:c.-83_-81delinsTG
  • NP_001007234.1:p.Arg41fs
  • NP_001007235.1:p.Arg99fs
  • LRG_466t1:c.295_297delAGAinsTG
  • LRG_466:g.31710_31712delinsTG
  • LRG_466p1:p.Arg99fs
  • NC_000005.9:g.60214194_60214196delinsCA
  • NM_000082.3:c.295_297delAGAinsTG
Protein change:
R41fs
Links:
dbSNP: rs1131691783
NCBI 1000 Genomes Browser:
rs1131691783
Molecular consequence:
  • NM_001290285.1:c.-83_-81delinsTG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001007233.2:c.121_123delinsTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001007234.3:c.295_297delinsTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cockayne syndrome type A (CSA)
Synonyms:
Cockayne syndrome classical; Cockayne syndrome classic form; Cockayne syndrome type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019569; MedGen: C0751039; Orphanet: 191; OMIM: 216400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000998511Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxellescriteria provided, single submitter
Pathogenicinheritedclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001132183Counsylno assertion criteria providedLikely pathogenic
(Dec 15, 2017)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

PubMed [citation]
PMID:
26846091
PMCID:
PMC4743197

Details of each submission

From Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles, SCV000998511.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV001132183.1

#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: Sep 29, 2021

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