NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Feb 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665546.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)]

NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)

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.1009A>T (p.Lys337Ter)
HGVS:
  • NC_000010.11:g.49524421T>A
  • NG_009442.1:g.19681A>T
  • NG_033155.1:g.4861A>T
  • NM_000124.4:c.1009A>TMANE SELECT
  • NM_001277058.1:c.1009A>T
  • NM_001277059.1:c.1009A>T
  • NM_001346440.1:c.1009A>T
  • NP_000115.1:p.Lys337Ter
  • NP_001263987.1:p.Lys337Ter
  • NP_001263988.1:p.Lys337Ter
  • NP_001333369.1:p.Lys337Ter
  • LRG_465t1:c.1009A>T
  • LRG_465:g.19681A>T
  • NC_000010.10:g.50732467T>A
  • NM_000124.2:c.1009A>T
  • NM_000124.3:c.1009A>T
Protein change:
K337*
Links:
dbSNP: rs1198241866
NCBI 1000 Genomes Browser:
rs1198241866
Molecular consequence:
  • NM_000124.4:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277058.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277059.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000789688Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 9, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

Selzer RR, Nyaga S, Tuo J, May A, Muftuoglu M, Christiansen M, Citterio E, Brosh RM Jr, Bohr VA.

Nucleic Acids Res. 2002 Feb 1;30(3):782-93.

PubMed [citation]
PMID:
11809892
PMCID:
PMC100288

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, SCV000789688.1

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

Last Updated: Jul 7, 2021

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