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NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000190167.4
Variation ID:
190167
Description:
1bp deletion
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NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)

Allele ID
187992
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49470424 (GRCh38) GRCh38 UCSC
10: 50678470 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_465t1:c.3536del
LRG_465:g.73678del
NC_000010.10:g.50678470del
... more HGVS
Protein change
Y1179fs
Other names
-
Canonical SPDI
NC_000010.11:49470423:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA274707
dbSNP: rs786205171
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 14, 2020 RCV000224382.4
Pathogenic 1 criteria provided, single submitter Sep 21, 2012 RCV000170386.1
Likely pathogenic 1 criteria provided, single submitter Apr 3, 2017 RCV000666242.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC6 - - GRCh38
GRCh37
525 816

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 21, 2012)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome, type B
(Autosomal recessive inheritance)
Allele origin: germline
Claritas Genomics
Accession: SCV000222804.1
Submitted: (Apr 13, 2015)
Evidence details
Pathogenic
(May 14, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281408.1
Submitted: (May 19, 2016)
Evidence details
Likely pathogenic
(Apr 03, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000790500.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001397216.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr1179Leufs*22) in the ERCC6 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Calmels N Journal of medical genetics 2018 PMID: 29572252
Carrier testing for severe childhood recessive diseases by next-generation sequencing. Bell CJ Science translational medicine 2011 PMID: 21228398
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Laugel V Human mutation 2010 PMID: 19894250
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Laugel V Journal of medical genetics 2008 PMID: 18628313
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Mallery DL American journal of human genetics 1998 PMID: 9443879

Text-mined citations for rs786205171...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021