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NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000194152.5
Variation ID:
194152
Description:
single nucleotide variant
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NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)

Allele ID
191315
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49474222 (GRCh38) GRCh38 UCSC
10: 50682268 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_465:g.69880C>T
NC_000010.10:g.50682268G>A
NC_000010.11:g.49474222G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:49474221:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00226
1000 Genomes Project 0.00319
The Genome Aggregation Database (gnomAD), exomes 0.00052
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00246
The Genome Aggregation Database (gnomAD) 0.00264
Exome Aggregation Consortium (ExAC) 0.00073
The Genome Aggregation Database (gnomAD) 0.00234
Links
ClinGen: CA200995
dbSNP: rs114896216
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 14, 2015 RCV000174447.1
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000282350.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000340937.2
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV000872366.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000376963.2
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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 benign
(Apr 14, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225753.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cerebrooculofacioskeletal syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362865.3
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Age-related macular degeneration 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362863.3
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362864.3
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)
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001014166.3
Submitted: (Jan 07, 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 rs114896216...

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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