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NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 21, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001384070.5

Allele description [Variation Report for NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)]

NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)

Genes:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
HGVS:
  • NC_000010.11:g.49524073G>A
  • NG_009442.1:g.20029C>T
  • NG_033155.1:g.5209C>T
  • NM_000124.4:c.1357C>TMANE SELECT
  • NM_001277058.2:c.1357C>T
  • NM_001277059.2:c.1357C>T
  • NM_001346440.2:c.1357C>T
  • NM_170753.3:c.-48C>T
  • NP_000115.1:p.Arg453Ter
  • NP_000115.1:p.Arg453Ter
  • NP_001263987.1:p.Arg453Ter
  • NP_001263988.1:p.Arg453Ter
  • NP_001333369.1:p.Arg453Ter
  • LRG_465t1:c.1357C>T
  • LRG_465:g.20029C>T
  • LRG_465p1:p.Arg453Ter
  • NC_000010.10:g.50732119G>A
  • NM_000124.2:c.1357C>T
  • NM_000124.3:c.1357C>T
Protein change:
R453*; ARG453TER
Links:
OMIM: 609413.0004; dbSNP: rs121917902
NCBI 1000 Genomes Browser:
rs121917902
Molecular consequence:
  • NM_170753.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000124.4:c.1357C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277058.2:c.1357C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001277059.2:c.1357C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.1357C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001583449Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 21, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.

J Med Genet. 2008 Sep;45(9):564-71. doi: 10.1136/jmg.2007.057141. Epub 2008 Jul 15.

PubMed [citation]
PMID:
18628313

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.

Am J Hum Genet. 1998 Jan;62(1):77-85. Erratum in: Am J Hum Genet 1999 May;64(5):1491.

PubMed [citation]
PMID:
9443879
PMCID:
PMC1376810
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583449.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Arg453*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Cockayne syndrome (PMID: 9443879, 29572252). ClinVar contains an entry for this variant (Variation ID: 1703). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Oct 8, 2024