NM_000124.4(ERCC6):c.1283dup (p.Ser429fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2022
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:: RCV002853218.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.1283dup (p.Ser429fs)]

NM_000124.4(ERCC6):c.1283dup (p.Ser429fs)

Genes:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.1283dup (p.Ser429fs)

HGVS:

NC_000010.11:g.49524149dup
NG_009442.1:g.19955dup
NG_033155.1:g.5135dup
NM_000124.4:c.1283dupMANE SELECT
NM_001277058.2:c.1283dup
NM_001277059.2:c.1283dup
NM_001346440.2:c.1283dup
NM_170753.3:c.-122dup
NP_000115.1:p.Ser429Lysfs
NP_000115.1:p.Ser429fs
NP_001263987.1:p.Ser429fs
NP_001263988.1:p.Ser429fs
NP_001333369.1:p.Ser429fs
LRG_465t1:c.1281dup
LRG_465:g.19955dup
LRG_465p1:p.Ser429Lysfs
NC_000010.10:g.50732192_50732193insG
NC_000010.10:g.50732195dup
NM_000124.2:c.1281dup

Protein change:

S429fs

Molecular consequence:

NM_170753.3:c.-122dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000124.4:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277058.2:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277059.2:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346440.2:c.1283dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003225609	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 21, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9443879, 18628313, 29572252, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003225609

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 21, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003225609.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 9443879, 29572252). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser429Lysfs*7) 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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