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NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Aug 5, 2018
Most recent Submission:
Mar 28, 2022
Last evaluated:
Dec 12, 2021
Accession:
VCV000551532.3
Variation ID:
551532
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)

Allele ID
545474
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49530737 (GRCh38) GRCh38 UCSC
10: 50738783 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000124.4:c.526C>T MANE Select NP_000115.1:p.Arg176Ter nonsense
NM_001277058.2:c.526C>T MANE Plus Clinical NP_001263987.1:p.Arg176Ter nonsense
NM_001277059.2:c.526C>T NP_001263988.1:p.Arg176Ter nonsense
... more HGVS
Protein change
R176*
Other names
-
Canonical SPDI
NC_000010.11:49530736:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs771781694
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 Dec 12, 2021 RCV001731863.2
Likely pathogenic 1 criteria provided, single submitter Apr 14, 2017 RCV000666614.1
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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
764 1173
ERCC6-PGBD3 - - - GRCh38 - 347

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000790933.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (1)
PubMed: 25356239
Pathogenic
(Oct 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001982610.1
First in ClinVar: Oct 30, 2021
Last updated: Oct 30, 2021
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; This … (more)
Pathogenic
(Dec 12, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002233557.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Publications:
PubMed (3)
PubMed: 186283132957225225356239
Comment:
This sequence change creates a premature translational stop signal (p.Arg176*) 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
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. Luo Y Clinical case reports 2014 PMID: 25356239
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

Text-mined citations for rs771781694...

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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 Sep 17, 2022