NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001227175.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)]

NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)

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.1954C>T (p.Arg652Ter)
HGVS:
  • NC_000010.11:g.49483384G>A
  • NG_009442.1:g.60718C>T
  • NM_000124.4:c.1954C>TMANE SELECT
  • NM_001346440.2:c.1954C>T
  • NP_000115.1:p.Arg652Ter
  • NP_001333369.1:p.Arg652Ter
  • LRG_465t1:c.1954C>T
  • LRG_465:g.60718C>T
  • NC_000010.10:g.50691430G>A
  • NM_000124.2:c.1954C>T
  • NM_000124.3:c.1954C>T
Protein change:
R652*
Links:
dbSNP: rs767247987
NCBI 1000 Genomes Browser:
rs767247987
Molecular consequence:
  • NM_000124.4:c.1954C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.1954C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001399519Invitaecriteria provided, single submitter
Pathogenic
(May 13, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR.

J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23.

PubMed [citation]
PMID:
29572252
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001399519.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg652*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767247987, ExAC 0.003%). This variant has been observed in individual(s) with Cockayne syndrome (PMID: 19894250, 29572252). ClinVar contains an entry for this variant (Variation ID: 190155). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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