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_005236.2(ERCC4):c.61C>G (p.Gln21Glu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 24, 2020
Accession:
VCV000317797.3
Variation ID:
317797
Description:
single nucleotide variant
Help

NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu)

Allele ID
340484
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13920226 (GRCh38) GRCh38 UCSC
16: 14014083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.13920226C>G
NC_000016.9:g.14014083C>G
NM_005236.2:c.61C>G NP_005227.1:p.Gln21Glu missense
... more HGVS
Protein change
Q21E
Other names
-
Canonical SPDI
NC_000016.10:13920225:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA7910075
dbSNP: rs748499820
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000334401.2
Uncertain significance 1 criteria provided, single submitter Jul 24, 2020 RCV001362330.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC4 - - GRCh38
GRCh37
405 426

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Xeroderma pigmentosum, group F
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394849.3
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
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV001558341.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with glutamic acid at codon 21 of the ERCC4 protein (p.Gln21Glu). The glutamine residue is moderately conserved and there is … (more)

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs748499820...

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 Apr 18, 2021