NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Apr 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666242.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)]

NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
HGVS:
  • NC_000010.11:g.49470424del
  • NG_009442.1:g.73678del
  • NM_000124.4:c.3536delMANE SELECT
  • NM_001346440.1:c.3536del
  • NP_000115.1:p.Tyr1179fs
  • NP_001333369.1:p.Tyr1179fs
  • LRG_465t1:c.3536del
  • LRG_465:g.73678del
  • NC_000010.10:g.50678470del
  • NM_000124.2:c.3536delA
  • NM_000124.3:c.3536del
  • NM_000124.3:c.3536delA
Protein change:
Y1179fs
Links:
dbSNP: rs786205171
NCBI 1000 Genomes Browser:
rs786205171
Molecular consequence:
  • NM_000124.4:c.3536del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.1:c.3536del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
DE SANCTIS-CACCHIONE SYNDROME (ERCC6)
Synonyms:
Xerodermic idiocy
Identifiers:
MONDO: MONDO:0010217; MedGen: C0265201; OMIM: 278800
Name:
Cerebrooculofacioskeletal syndrome 1 (COFS1)
Synonyms:
Cerebro-oculo-facio-skeletal syndrome 1
Identifiers:
MONDO: MONDO:0008955; MedGen: C0220722; OMIM: 214150
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
SCV000790500Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 3, 2017)
unknownclinical testing

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

Citation Link

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, SCV000790500.1

#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: Oct 7, 2021

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