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NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 18, 2018
Accession:
VCV000557934.1
Variation ID:
557934
Description:
1bp deletion
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NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)

Allele ID
545432
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49461378 (GRCh38) GRCh38 UCSC
10: 50669424 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_465:g.82724del
LRG_465t1:c.3957del
NC_000010.10:g.50669428del
... more HGVS
Protein change
I1320fs
Other names
-
Canonical SPDI
NC_000010.11:49461377:CCCCC:CCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554874073
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 Apr 18, 2018 RCV000674136.1
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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
(Apr 18, 2018)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000799419.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. Sin Y The Journal of biological chemistry 2016 PMID: 26620705

Text-mined citations for rs1554874073...

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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