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NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 14, 2017
Accession:
VCV000551532.1
Variation ID:
551532
Description:
single nucleotide variant
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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
Nucleotide Protein Molecular
consequence
LRG_465:g.13365C>T
LRG_465t1:c.526C>T
NC_000010.10:g.50738783G>A
... more HGVS
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
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Cockayne syndrome B
DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic 1 criteria provided, single submitter Apr 14, 2017 RCV000666614.1
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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
(See all)
Likely pathogenic
(Apr 14, 2017)
 criteria provided, single submitter
(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Method: clinical testing
 Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000790933.1
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
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. Luo Y Clinical case reports 2014 PMID: 25356239

Text-mined citations for rs771781694...

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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 Oct 24, 2021

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