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NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 12, 2020
Accession:
VCV000551667.2
Variation ID:
551667
Description:
1bp duplication
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NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)

Allele ID
545059
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49461463-49461464 (GRCh38) GRCh38 UCSC
10: 50669509-50669510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000124.2:c.3871dupC
NC_000010.10:g.50669512dup
NC_000010.11:g.49461466dup
... more HGVS
Protein change
Q1291fs
Other names
-
Canonical SPDI
NC_000010.11:49461463:GGG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1386369933
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 May 3, 2017 RCV000666791.1
Pathogenic 1 criteria provided, single submitter Jul 12, 2020 RCV001386579.1
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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
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000791147.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Jul 12, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001586842.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln1291Profs*40) 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
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 rs1386369933...

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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