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NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 2, 2020
Accession:
VCV000212733.7
Variation ID:
212733
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)

Allele ID
209352
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49530797 (GRCh38) GRCh38 UCSC
10: 50738843 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_465:g.13305C>T
LRG_465t1:c.466C>T
NC_000010.10:g.50738843G>A
... more HGVS
Protein change
Q156*
Other names
-
Canonical SPDI
NC_000010.11:49530796:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Links
ClinGen: CA277210
dbSNP: rs751838040
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 2, 2020 RCV000224212.7
Likely pathogenic 1 no assertion criteria provided Aug 12, 2014 RCV000193828.2
Likely pathogenic 1 no assertion criteria provided Mar 29, 2017 RCV000984001.1
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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
531 825
ERCC6-PGBD3 - - - GRCh38 - 243

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000280636.1
Submitted: (May 19, 2016)
Evidence details
Pathogenic
(Jul 02, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001387855.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Gln156*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(May 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329858.6
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Likely pathogenic
(Aug 12, 2014)
no assertion criteria provided
Method: clinical testing
Cockayne syndrome, type B
(Autosomal recessive inheritance)
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV000223926.1
Submitted: (May 29, 2015)
Evidence details
Likely pathogenic
(Mar 29, 2017)
no assertion criteria provided
Method: clinical testing
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000790594.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (1)

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
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 rs751838040...

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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 Nov 27, 2021