NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 21, 2020
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:: RCV001382562.7

Allele description [Variation Report for NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter)]

NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter)

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.1690G>T (p.Glu564Ter)

HGVS:

NC_000010.11:g.49493248C>A
NG_009442.1:g.50854G>T
NM_000124.4:c.1690G>TMANE SELECT
NM_001346440.2:c.1690G>T
NP_000115.1:p.Glu564Ter
NP_001333369.1:p.Glu564Ter
LRG_465:g.50854G>T
NC_000010.10:g.50701294C>A

Protein change:

E564*

Links:

dbSNP: rs2132565119

NCBI 1000 Genomes Browser:

rs2132565119

Molecular consequence:

NM_000124.4:c.1690G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346440.2:c.1690G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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3',5'-cyclic-AMP phosphodiesterase 4D isoform 1 [Mus musculus]
3',5'-cyclic-AMP phosphodiesterase 4D isoform 1 [Mus musculus]
gi|23510241|ref|NP_035186.1|

Protein
chitinase domain-containing protein 1 isoform 1 precursor [Rattus norvegicus]
chitinase domain-containing protein 1 isoform 1 precursor [Rattus norvegicus]
gi|124248495|ref|NP_001041319.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001581402	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 21, 2020)	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

SCV001581402

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 21, 2020)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001581402.4

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

Description

Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Cockayne syndrome (PMID: 29572252). This sequence change creates a premature translational stop signal (p.Glu564*) 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).

#	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: Sep 29, 2024

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