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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 12, 2017
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:
RCV000669858.1

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)

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 type 2 (CSB)
Synonyms:
Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794650Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(Oct 12, 2017) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

Horibata K, Saijo M, Bay MN, Lan L, Kuraoka I, Brooks PJ, Honma M, Nohmi T, Yasui A, Tanaka K.

Genes Cells. 2011 Jan;16(1):101-14. doi: 10.1111/j.1365-2443.2010.01467.x. Epub 2010 Dec 9.

PubMed [citation]
PMID:
21143350

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 (3)

Details of each submission

From Counsyl, SCV000794650.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024