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NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 13, 2020
Accession:
VCV000190155.3
Variation ID:
190155
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)

Allele ID
188004
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49483384 (GRCh38) GRCh38 UCSC
10: 50691430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.49483384G>A
NG_009442.1:g.60718C>T
NM_000124.4:c.1954C>T MANE Select NP_000115.1:p.Arg652Ter nonsense
... more HGVS
Protein change
R652*
Other names
-
Canonical SPDI
NC_000010.11:49483383:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274694
dbSNP: rs767247987
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 21, 2013 RCV000170373.1
Pathogenic 1 criteria provided, single submitter May 13, 2020 RCV001227175.2
Likely pathogenic 1 criteria provided, single submitter May 12, 2017 RCV000667169.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 21, 2013)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome, type B
(Autosomal recessive inheritance)
Allele origin: germline
Claritas Genomics
Accession: SCV000222788.1
Submitted: (Apr 13, 2015)
Evidence details
Likely pathogenic
(May 12, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000791576.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 13, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001399519.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg652*) 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
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 rs767247987...

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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