NM_000124.4(ERCC6):c.777_787del (p.Lys259fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 11, 2023
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:: RCV003700145.1

Allele description

NM_000124.4(ERCC6):c.777_787del (p.Lys259fs)

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.777_787del (p.Lys259fs)

HGVS:

NC_000010.11:g.49524650_49524660del
NG_009442.1:g.19449_19459del
NG_033155.1:g.4629_4639del
NM_000124.4:c.777_787delMANE SELECT
NM_001277058.2:c.777_787del
NM_001277059.2:c.777_787del
NM_001346440.2:c.777_787del
NP_000115.1:p.Lys259Asnfs
NP_000115.1:p.Lys259fs
NP_001263987.1:p.Lys259fs
NP_001263988.1:p.Lys259fs
NP_001333369.1:p.Lys259fs
LRG_465t1:c.770_780del
LRG_465:g.19449_19459del
LRG_465p1:p.Lys259Asnfs
NC_000010.10:g.50732689_50732699del
NC_000010.10:g.50732696_50732706del
NM_000124.2:c.770_780delAGAAAAAGCCC

Protein change:

K259fs

Molecular consequence:

NM_000124.4:c.777_787del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277058.2:c.777_787del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277059.2:c.777_787del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346440.2:c.777_787del - 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
SCV004462265	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 11, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18628313, 29572252, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004462265

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 11, 2023)

germline

clinical testing

PubMed (3)
[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

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, SCV004462265.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys259Asnfs*4) 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 28, 2024

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