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NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
14
First in ClinVar:
Mar 8, 2017
Most recent Submission:
Mar 8, 2017
Last evaluated:
May 31, 2016
Accession:
VCV000376414.1
Variation ID:
376414
Description:
single nucleotide variant
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NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)

Allele ID
363293
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q31.3
Genomic location
4: 152328233 (GRCh38) GRCh38 UCSC
4: 153249385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001349798.2:c.1393C>T MANE Select NP_001336727.1:p.Arg465Cys missense
NM_001013415.2:c.1039C>T NP_001013433.1:p.Arg347Cys missense
NM_018315.5:c.1153C>T NP_060785.2:p.Arg385Cys missense
... more HGVS
Protein change
R465C, R347C, R385C
Other names
-
Canonical SPDI
NC_000004.12:152328232:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA16602851
dbSNP: rs867384286
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420611.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000421110.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422617.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420440.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426601.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428525.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431273.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432242.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431798.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433796.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439190.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439851.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441161.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBXW7 - - GRCh38
GRCh37
48 78

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenoid cystic carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506156.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine carcinosarcoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506157.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506158.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Ovarian serous cystadenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506159.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506160.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Medulloblastoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506161.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506162.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Gastric adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506163.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
B-cell chronic lymphocytic leukemia
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506164.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506165.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506166.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506167.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of uterine cervix
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506168.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506169.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T

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
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
http://docm.genome.wustl.edu/variants/ENST00000281708:c.1393C>T - - - -

Text-mined citations for rs867384286...

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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 Jul 02, 2022