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NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 28, 2018
Accession:
VCV000541251.1
Variation ID:
541251
Description:
1bp deletion
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NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer)

Allele ID
529467
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13935663 (GRCh38) GRCh38 UCSC
16: 14029520 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.13935663del
NC_000016.9:g.14029520del
NM_005236.2:c.1731del NP_005227.1:p.Arg576_Tyr577insTer nonsense
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:13935662:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658798545
dbSNP: rs1555468482
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 28, 2018 RCV000651478.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC4 - - GRCh38
GRCh37
405 426

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 28, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV000773330.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr577*) in the ERCC4 gene. It is expected to result in an absent or disrupted protein … (more)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Kashiyama K American journal of human genetics 2013 PMID: 23623389

Text-mined citations for rs1555468482...

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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 Apr 08, 2021