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NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Mar 8, 2019
Accession:
VCV000967171.1
Variation ID:
967171
Description:
single nucleotide variant
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NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)

Allele ID
957625
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13934290 (GRCh38) GRCh38 UCSC
16: 14028147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.13934290C>T
NC_000016.9:g.14028147C>T
NM_005236.3:c.1201C>T MANE Select NP_005227.1:p.Leu401Phe missense
... more HGVS
Protein change
L401F
Other names
-
Canonical SPDI
NC_000016.10:13934289:C: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 Mar 8, 2019 RCV001242009.1
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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
(Mar 08, 2019)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV001415069.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with phenylalanine at codon 401 of the ERCC4 protein (p.Leu401Phe). The leucine 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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Title Author Journal Year Link
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. Shindo K Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 PMID: 28767289
Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition. Matakidou A International journal of cancer 2006 PMID: 16550608

Record last updated Apr 08, 2021