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 variant is associated with the following publications: (PMID: 24700531, 25356239)
ClinVar Genomic variation as it relates to human health
Help
- 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
Help
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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NM_001346440.2:c.526C>T NP_001333369.1:p.Arg176Ter nonsense NC_000010.11:g.49530737G>A NC_000010.10:g.50738783G>A NG_009442.1:g.13365C>T LRG_465:g.13365C>T LRG_465t1:c.526C>T - 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
Help
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 |
Submitted interpretations and evidence
Help| 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 |
|
|
|
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)
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 variant is associated with the following publications: (PMID: 24700531, 25356239) (less)
|
|
|
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 |
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)
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 product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (rs771781694, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 25356239, 29572252). ClinVar contains an entry for this variant (Variation ID: 551532). For these reasons, this variant has been classified as Pathogenic. (less)
|
Functional evidence
Help| 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
Help| 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...
HelpThese 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