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NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 27, 2021)
Last evaluated:
Feb 22, 2021
Accession:
VCV000550722.3
Variation ID:
550722
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)

Allele ID
545084
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49524421 (GRCh38) GRCh38 UCSC
10: 50732467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50732467T>A
NC_000010.11:g.49524421T>A
NM_000124.4:c.1009A>T MANE Select NP_000115.1:p.Lys337Ter nonsense
... more HGVS
Protein change
K337*
Other names
-
Canonical SPDI
NC_000010.11:49524420:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1198241866
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 Feb 9, 2017 RCV000665546.1
Pathogenic 1 criteria provided, single submitter Aug 3, 2018 RCV000809201.1
Pathogenic 1 criteria provided, single submitter Feb 22, 2021 RCV001449817.1
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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
ERCC6-PGBD3 - - - GRCh38 - 240

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000789688.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Aug 03, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000949344.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Lys337*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Feb 22, 2021)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV001653117.1
Submitted: (May 27, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The p.Lys337X variant in ERCC6 has been reported in a compound heterozygous state in an individual with Cockayne syndrome, who carried a second pathogenic variant … (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
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Laugel V Human mutation 2010 PMID: 19894250
Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. Selzer RR Nucleic acids research 2002 PMID: 11809892
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. van der Horst GT Cell 1997 PMID: 9150142
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Troelstra C Cell 1992 PMID: 1339317
Cockayne syndrome: a cellular sensitivity to ultraviolet light. Schmickel RD Pediatrics 1977 PMID: 887325

Text-mined citations for rs1198241866...

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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 Jul 07, 2021