Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(6);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Oct 22, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000300083.14
Variation ID:
300083
Description:
single nucleotide variant
Help

NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)

Allele ID
322326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49524156 (GRCh38) GRCh38 UCSC
10: 50732202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.49524156T>G
NG_009442.1:g.19946A>C
NG_033155.1:g.5126A>C
... more HGVS
Protein change
D425A
Other names
-
Canonical SPDI
NC_000010.11:49524155:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00176
Trans-Omics for Precision Medicine (TOPMed) 0.00161
The Genome Aggregation Database (gnomAD) 0.00159
Exome Aggregation Consortium (ExAC) 0.00170
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Links
ClinGen: CA5496358
UniProtKB: Q03468#VAR_016301
dbSNP: rs4253046
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000266947.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000324334.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000364031.2
Conflicting interpretations of pathogenicity 5 criteria provided, conflicting interpretations Jul 1, 2021 RCV000733377.8
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC6 - - GRCh38
GRCh37
529 823
ERCC6-PGBD3 - - - GRCh38 - 243
PGBD3 - - - GRCh38
GRCh37
- 122

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000362938.3
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: SCV000362940.3
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
Cerebrooculofacioskeletal syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362939.3
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
(May 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861442.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001014471.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 08, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714952.1
Submitted: (May 26, 2021)
Evidence details
Likely benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001147888.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Sep 25, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001982726.1
Submitted: (Oct 22, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ERCC6 - - - -

Text-mined citations for rs4253046...

Help
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 30, 2021