NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs) AND Cockayne syndrome type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 27, 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:: RCV002310057.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)]

NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)

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.3505dup (p.Trp1169fs)

HGVS:

NC_000010.11:g.49470459dup
NG_009442.1:g.73647dup
NM_000124.4:c.3505dupMANE SELECT
NM_001346440.2:c.3505dup
NP_000115.1:p.Trp1169Leufs
NP_000115.1:p.Trp1169fs
NP_001333369.1:p.Trp1169fs
LRG_465t1:c.3501dup
LRG_465:g.73647dup
LRG_465p1:p.Trp1169Leufs
NC_000010.10:g.50678505dup
NM_000124.2:c.3501dup

Protein change:

W1169fs

Molecular consequence:

NM_000124.4:c.3505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346440.2:c.3505dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cockayne syndrome type 2 (CSB)
Synonyms:: Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:: MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002604308	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 27, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604308

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 27, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002604308.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_000124.2(ERCC6):c.3505dupT(W1169Lfs*4) is expected to be pathogenic in the context of ERCC6-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ERCC6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Oct 8, 2024

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