NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Jul 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:
RCV000622864.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)]

NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
HGVS:
  • NC_000010.11:g.49461473G>A
  • NG_009442.1:g.82629C>T
  • NM_000124.4:c.3862C>TMANE SELECT
  • NM_001346440.2:c.3862C>T
  • NP_000115.1:p.Arg1288Ter
  • NP_001333369.1:p.Arg1288Ter
  • LRG_465t1:c.3862C>T
  • LRG_465:g.82629C>T
  • NC_000010.10:g.50669519G>A
  • NM_000124.2:c.3862C>T
  • NM_000124.3:c.3862C>T
Protein change:
R1288*; ARG1288TER
Links:
OMIM: 609413.0015; dbSNP: rs185142838
NCBI 1000 Genomes Browser:
rs185142838
Molecular consequence:
  • NM_000124.4:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742719Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jul 3, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/Irish/Englishgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V.

Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9.

PubMed [citation]
PMID:
23311583
PMCID:
PMC3599377

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
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000742719.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/Irish/English1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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