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

Clinical significance:Likely pathogenic (Last evaluated: May 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667169.1

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)

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
SCV000791576Counsylcriteria provided, single submitter
Likely pathogenic
(May 12, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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

Details of each submission

From Counsyl, SCV000791576.1

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

Last Updated: Nov 27, 2021

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