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NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 5, 2020
Accession:
VCV000134137.4
Variation ID:
134137
Description:
single nucleotide variant
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NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)

Allele ID
137876
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13948141 (GRCh38) GRCh38 UCSC
16: 14041998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_463:g.32985C>G
LRG_463t1:c.2545C>G LRG_463p1:p.Gln849Glu
NC_000016.9:g.14041998C>G
... more HGVS
Protein change
Q849E
Other names
-
Canonical SPDI
NC_000016.10:13948140:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00009
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA158873
dbSNP: rs374186605
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 Nov 5, 2020 RCV000535348.4
not provided 1 no assertion provided Sep 19, 2013 RCV000120810.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC4 - - GRCh38
GRCh37
447 468

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV000654062.4
Submitted: (Jan 07, 2021)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000084975.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs374186605...

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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