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NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV001007763.1
Variation ID:
1007763
Description:
single nucleotide variant
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NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)

Allele ID
996588
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13930717 (GRCh38) GRCh38 UCSC
16: 14024574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.13930717G>T
NC_000016.9:g.14024574G>T
NM_005236.3:c.800G>T MANE Select NP_005227.1:p.Arg267Leu missense
... more HGVS
Protein change
R267L
Other names
-
Canonical SPDI
NC_000016.10:13930716:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV001304992.1
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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
420 441

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV001494300.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with leucine at codon 267 of the ERCC4 protein (p.Arg267Leu). The arginine residue is moderately conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 08, 2021