NM_000082.4(ERCC8):c.1042-1G>C AND Cockayne syndrome type A

Clinical significance:Likely pathogenic (Last evaluated: Apr 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666637.1

Allele description [Variation Report for NM_000082.4(ERCC8):c.1042-1G>C]

NM_000082.4(ERCC8):c.1042-1G>C

Gene:
ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q12.1
Genomic location:
Preferred name:
NM_000082.4(ERCC8):c.1042-1G>C
HGVS:
  • NC_000005.10:g.60887521C>G
  • NG_009289.1:g.62558G>C
  • NM_000082.3:c.1042-1G>C
  • NM_000082.4:c.1042-1G>CMANE SELECT
  • NM_001007233.3:c.868-1G>C
  • NM_001290285.2:c.583-1G>C
  • LRG_466t1:c.1042-1G>C
  • LRG_466:g.62558G>C
  • NC_000005.9:g.60183348C>G
Links:
dbSNP: rs897535441
NCBI 1000 Genomes Browser:
rs897535441
Molecular consequence:
  • NM_000082.3:c.1042-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000082.4:c.1042-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001007233.3:c.868-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001290285.2:c.583-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790960Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 18, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000790960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

Support Center