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NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(7)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 25, 2021)
Last evaluated:
May 24, 2021
Accession:
VCV000288967.15
Variation ID:
288967
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)

Allele ID
273204
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49470310 (GRCh38) GRCh38 UCSC
10: 50678356 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50678356A>C
LRG_465:g.73792T>G
LRG_465t1:c.3650T>G
... more HGVS
Protein change
F1217C
Other names
-
Canonical SPDI
NC_000010.11:49470309:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00073
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00071
Trans-Omics for Precision Medicine (TOPMed) 0.00091
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD) 0.00084
Links
ClinGen: CA5495307
dbSNP: rs61760166
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 17, 2021 RCV000364264.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000307135.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000397087.2
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations May 24, 2021 RCV000513602.9
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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
Uncertain significance
(Apr 11, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343228.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362769.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cerebrooculofacioskeletal syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362768.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Age-related macular degeneration 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362767.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001015069.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 17, 2021)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV001775515.1
Submitted: (Aug 07, 2021)
Evidence details
Uncertain significance
(May 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000572273.4
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Has been reported in one patient with peripheral neuropathy associated with oxaliplatin (PNAO); this patient harbored a second missense variant in ERCC6 but it is … (more)
Uncertain significance
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000608537.11
Submitted: (Jul 04, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ERCC6 - - - -

Text-mined citations for rs61760166...

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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