NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001386579.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)]

NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)
HGVS:
  • NC_000010.11:g.49461466dup
  • NG_009442.1:g.82638dup
  • NM_000124.4:c.3871dupMANE SELECT
  • NM_001346440.2:c.3871dup
  • NP_000115.1:p.Gln1291fs
  • NP_001333369.1:p.Gln1291fs
  • LRG_465:g.82638dup
  • NC_000010.10:g.50669509_50669510insG
  • NC_000010.10:g.50669512dup
  • NM_000124.2:c.3871dupC
Protein change:
Q1291fs
Links:
dbSNP: rs1386369933
NCBI 1000 Genomes Browser:
rs1386369933
Molecular consequence:
  • NM_000124.4:c.3871dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.2:c.3871dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001586842Invitaecriteria provided, single submitter
Pathogenic
(Jul 12, 2020)
germlineclinical testing

PubMed (3)
[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

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

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 (3)

Details of each submission

From Invitae, SCV001586842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln1291Profs*40) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 551667). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). 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 24, 2021

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